• Systemic Therapy for Hereditary Breast Cancers.
    • Harvey-Jones EJ, Lord CJ, Tutt ANJ.
    • Hematol Oncol Clin North Am. 2023 Feb;37(1):203-224. doi: 10.1016/j.hoc.2022.08.018.
    • Malignant Perivascular Epithelioid Cell Tumor (PEComa) of the Uterus as Part of the Hereditary Cancer Syndrome: A Case Diagnosed with Multiple Malignancies.
    • Caliskan S, Akar OS, Gun S, Kefeli M.
    • Turk Patoloji Derg. 2022 Dec 11. English. doi: 10.5146/tjpath.2022.01592. Epub ahead of print.
    • Comments on "Effect of HIPEC according to HRD/BRCAwt genomic profile in stage III ovarian cancer: Results from the phase III OVHIPEC trial".
    • Bhatt A, Bhandoria G, Kepenekian V, Bakrin N, Glehen O.
    • Int J Cancer. 2022 Dec 1;151(11):2055-2056. doi: 10.1002/ijc.34220. Epub 2022 Aug 5.
    • Comment. Letter.

    Reply, Letter:

    Reply to: Comments on "Effect of HIPEC according to HRD/BRCAwt genomic profile in stage III ovarian cancer: Results from the phase III OVHIPEC trial".

    Original research:

    Effect of HIPEC according to HRD/BRCAwt genomic profile in stage III ovarian cancer: Results from the phase III OVHIPEC trial.

    • Genetic Predisposition to Male Breast Cancer: A Case Series.
    • Apessos A, Agiannitopoulos K, Pepe G, Tsaousis GN, Pitta P, Bili C, Florentin L, Saloustros E, Kampletsas E, Tryfonopoulos D, Tsoukalas N, Bournakis E, Zagouri F, Kotsakis A, Koumarianou A, Korantzis I, Boukovinas I, Lypas G, Fountzilas G, Michalaki V, Xynogalos S, Linardou H, Papadopoulou E, Nasioulas G, Georgoulias V.
    • Anticancer Res. 2022 Dec;42(12):5795-5801. doi: 10.21873/anticanres.16086.
    • Germline pathogenic variants associated with ovarian cancer: A historical overview.
    • Johansen EL, Thusgaard CF, Thomassen M, Boonen SE, Jochumsen KM.
    • Gynecol Oncol Rep. 2022 Nov 8 [eCollection 2022 Dec];44:101105. doi: 10.1016/j.gore.2022.101105.
    • Small cell carcinoma of the ovary hypercalcemic type (SCCOHT): A review and novel case with dual germline SMARCA4 and BRCA2 mutations.
    • Sanders BE, Wolsky R, Doughty ES, Wells KL, Ghosh D, Ku L, Pressey JG, Bitler BB, Brubaker LW.
    • Gynecol Oncol Rep. 2022 Oct 6 [eCollection 2022 Dec];44:101077. doi: 10.1016/j.gore.2022.101077.
    • The germline mutational landscape of genitourinary cancers and its indication for prognosis and risk.
    • Yang Y, Zhang G, Hu C, Luo W, Jiang H, Liu S, Yang H.
    • BMC Urol. 2022 Nov 30;22(1):196. doi: 10.1186/s12894-022-01141-1.
    • Germline Variants in DNA Damage Repair Genes and HOXB13 Among Black Patients With Early-Onset Prostate Cancer.
    • Trendowski MR, Sample C, Baird T, Sadeghpour A, Moon D, Ruterbusch JJ, Beebe-Dimmer JL, Cooney KA.
    • JCO Precis Oncol. 2022 Nov [2022 Nov 29];6:e2200460. doi: 10.1200/PO.22.00460.

    •• Research news: Genetic Variants Linked to Prostate Cancer in Black Men Identified. (Inside Precision Medicine)

    • Pathway-level mutation analysis in primary high-grade serous ovarian cancer and matched brain metastases.
    • Duchnowska R, Supernat AM, Pęksa R, Łukasiewicz M, Stokowy T, Ronen R, Dutkowski J, Umińska M, Iżycka-Świeszewska E, Kowalczyk A, Och W, Rucińska M, Olszewski WP, Mandat T, Jarosz B, Bieńkowski M, Biernat W, Jassem J.
    • Sci Rep. 2022 Nov 29;12(1):20537. doi: 10.1038/s41598-022-23788-4.
    • Adolescent triple-negative breast cancer with germline pathogenic variants in both BRCA1 and TP53 genes: A case report.
    • Chen D, Zhang C, Yuan M, Zhang Y, Liu Q, Wan D.
    • Front Oncol. 2022 Nov 28;12:970641. doi: 10.3389/fonc.2022.970641.
    • Differential involvement of germline pathogenic variants in breast cancer genes between DCIS and low-grade invasive cancers.
    • Evans DG, Sithambaram S, van Veen EM, Burghel GJ, Schlecht H, Harkness EF, Byers H, Ellingford JM, Gandhi A, Howell SJ, Howell A, Forde C, Lalloo F, Newman WG, Smith MJ, Woodward ER.
    • J Med Genet. 2022 Nov 28:jmg-2022-108790. doi: 10.1136/jmg-2022-108790. Epub ahead of print.
    • Variable number tandem repeats (VNTRs) as modifiers of breast cancer risk in carriers of BRCA1 185delAG.
    • Ding YC, Adamson AW, Bakhtiari M, Patrick C, Park J, Laitman Y, Weitzel JN, Bafna V, Friedman E, Neuhausen SL.
    • Eur J Hum Genet. 2022 Nov 25. doi: 10.1038/s41431-022-01238-z. Epub ahead of print.
    • The Identification of Large Rearrangements Involving Intron 2 of the CDH1 Gene in BRCA1/2 Negative and Breast Cancer Susceptibility.
    • Ben Aissa-Haj J, Pinheiron H, Cornelis F, Sebai M, Meseure D, Briaux A, Berteaux P, Lefol C, Des Guetz G, Trassard M, Stevens D, Vialard F, Bieche I, Noguès C, Tang R, Oliveira C, Stoppat-Lyonnet D, Lidereau R, Rouleau E.
    • Genes (Basel). 2022 Nov 25;13(12):2213. doi: 10.3390/genes13122213.
    • Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes.
    • Garcia-Pelaez J, Barbosa-Matos R, Lobo S, Dias A, Garrido L, Castedo S, Sousa S, Pinheiro H, Sousa L, Monteiro R, Maqueda JJ, Fernandes S, Carneiro F, Pinto N, Lemos C, Pinto C, Teixeira MR, Aretz S, Bajalica-Lagercrantz S, Balmaña J, Blatnik A, Benusiglio PR, Blanluet M, Bours V, Brems H, Brunet J, Calistri D, Capellá G, Carrera S, Colas C, Dahan K, de Putter R, Desseignés C, Domínguez-Garrido E, Egas C, Evans DG, Feret D, Fewings E, Fitzgerald RC, Coulet F, Garcia-Barcina M, Genuardi M, Golmard L, Hackmann K, Hanson H, Holinski-Feder E, Hüneburg R, Krajc M, Lagerstedt-Robinson K, Lázaro C, Ligtenberg MJL, Martínez-Bouzas C, Merino S, Michils G, Novakovic S, Patiño-García A, Ranzani GN, Schröck E, Silva I, Silveira C, Soto JL, Spier I, Steinke-Lange V, Tedaldi G, Tejada MI, Woodward ER, Tischkowitz M, Hoogerbrugge N, Oliveira C.
    • Lancet Oncol. 2022 Nov 24:S1470-2045(22)00643-X. doi: 10.1016/S1470-2045(22)00643-X. Epub ahead of print.
    • Whole-exome sequencing of BRCA-negative breast cancer patients and case-control analyses identify variants associated with breast cancer susceptibility.
    • Lee NY, Hum M, Amali AA, Lim WK, Wong M, Myint MK, Tay RJ, Ong PY, Samol J, Lim CW, Ang P, Tan MH, Lee SC, Lee ASG.
    • Hum Genomics. 2022 Nov 23;16(1):61. doi: 10.1186/s40246-022-00435-7.
    • Identification of novel exonic variants contributing to hereditary breast and ovarian cancer in West Indian population.
    • Waghela BN, Pandit RJ, Puvar A, Shah FD, Patel PS, Vora H, Sheth H, Tarapara B, Pandya S, Joshi CG, Joshi MN.
    • Gene. 2022 Nov 22:147070. doi: 10.1016/j.gene.2022.147070. Epub ahead of print.
    • The Prospective Lynch Syndrome Database: background, design, main results and complete MySQL code.
    • Møller P.
    • Hered Cancer Clin Pract. 2022 Nov 21;20(1):37. doi: 10.1186/s13053-022-00243-z.
    • UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C, RAD51D, BRIP1 and PALB2.
    • Hanson H, Kulkarni A, Loong L, Kavanaugh G, Torr B, Allen S, Ahmed M, Antoniou AC, Cleaver R, Dabir T, Evans DG, Golightly E, Jewell R, Kohut K, Manchanda R, Murray A, Murray J, Ong KR, Rosenthal AN, Woodward ER, Eccles DM, Turnbull C, Tischkowitz M; Consensus meeting attendees, Lalloo F.
    • J Med Genet. 2022 Nov 21:jmg-2022-108898. doi: 10.1136/jmg-2022-108898. Epub ahead of print.
    • Avelumab Plus Talazoparib in Patients With BRCA1/2- or ATM-Altered Advanced Solid Tumors: Results From JAVELIN BRCA/ATM, an Open-Label, Multicenter, Phase 2b, Tumor-Agnostic Trial.
    • Schram AM, Colombo N, Arrowsmith E, Narayan V, Yonemori K, Scambia G, Zelnak A, Bauer TM, Jin N, Ulahannan SV, Colleoni M, Aftimos P, Donoghue MTA, Rosen E, Rudneva VA, Telli ML, Domchek SM, Galsky MD, Hoyle M, Chappey C, Stewart R, Blake-Haskins JA, Yap TA.
    • JAMA Oncol. 2022 Nov 17. doi: 10.1001/jamaoncol.2022.5218. Epub ahead of print.

    •• Identifier: NCT03565991: Javelin BRCA/ATM: Avelumab Plus Talazoparib in Patients With BRCA or ATM Mutant Solid Tumors. (ClinicalTrials.gov . Accessed 2022 Nov 19.)

    •• Commentary:

    Combining PARP Inhibitor With Immunotherapy-Does the Promise of Preclinical Data Translate to Clinic?

    • Differential responses to taxanes and PARP inhibitors in ATM- versus BRCA2-mutated metastatic castrate-resistant prostate cancer.
    • Su CT, Nizialek E, Berchuck JE, Vlachostergios PJ, Ashkar R, Sokolova A, Barata PC, Aggarwal RR, McKay RR, Agarwal N, McClure HM, Nafissi N, Bryce AH, Sartor O, Sayegh N, Cheng HH, Adra N, Sternberg CN, Taplin ME, Cieslik M, Alva AS, Antonarakis ES.
    • Prostate. 2022 Nov 16. doi: 10.1002/pros.24454. Epub ahead of print.
    • Genetic Characterization in High-Risk Individuals from a Low-Resource City of Peru.
    • Zavaleta E, Solis N, Palacios MI, Zevallos-Escobar LE, Vasquez Corales E, Bazo-Alvarez JC, Dominguez-Barrera C, Campos A, Wernhoff P, Ekstrøm PO, Møller P, Visnovska T, Hovig E, Balazar-Palacios J, Alvarez-Valenzuela K, Nakken S, Dominguez-Valentin M.
    • Cancers (Basel). 2022 Nov 15;14(22):5603. doi: 10.3390/cancers14225603.
    • The Genetics of Pancreatic Cancer
    • [No author given]
    • My Gene Counsel. Genetic Journal. 2022 Nov 14.
    • Multigene Panel Testing Yields High Rates of Clinically Actionable Variants Among Patients With Colorectal Cancer.
    • Coughlin SE, Heald B, Clark DF, Nielsen SM, Hatchell KE, Esplin ED, Katona BW.
    • JCO Precis Oncol. 2022 Nov [12];6:e2200517. doi: 10.1200/PO.22.00517.
    • Rare MYC-N11S germline mutation indicative of inherited breast cancer in a multigeneration family.
    • Budurlean L, Baker M, Broach J.
    • BMJ Case Rep. 2022 Nov 11;15(11):e251336. doi: 10.1136/bcr-2022-251336.
    • Case report
    • Prevalence and Prognostic Relevance of Homologous Recombination Repair Gene Mutations in Uterine Serous Carcinoma.
    • Dong L, Wang T, Li N, Yao H, Ying J, Wu L, Yuan G.
    • Cells. 2022 Nov 11;11(22):3563. doi: 10.3390/cells11223563.
    • Inherited Cancer Susceptibility Gene Sequence Variations Among Patients With Appendix Cancer.
    • Holowatyj AN, Washington MK, Tavtigian SV, Eng C, Horton C.
    • JAMA Oncol. 2022 Nov 11. doi: 10.1001/jamaoncol.2022.5425. Epub ahead of print.
    • Study Suggests a PARP Inhibitors Has Wider Cancer Applications.
    • [No author given]
    • Inside Precision Medicine. Topics. Oncology. 2022 Nov 9.

    •• Original research:

    A phase II study of talazoparib monotherapy in patients with wild-type BRCA1 and BRCA2 with a mutation in other homologous recombination genes.

    • NBN pathogenic germline variants are associated with pan-cancer susceptibility and in vitro DNA damage response defects.
    • Belhadj S, Khurram A, Bandlamudi C, Palou-Márquez G, Ravichandran V, Steinsnyder Z, Wildman T, Catchings A, Kemel Y, Mukherjee S, Fesko B, Arora K, Mehine M, Dandiker S, Izhar A, Petrini J, Domchek S, Nathanson KL, Brower J, Couch F, Stadler Z, Robson M, Walsh M, Vijai J, Berger M, Supek F, Karam R, Topka S, Offit K.
    • Clin Cancer Res. 2022 Nov 8:CCR-22-1703. doi: 10.1158/1078-0432.CCR-22-1703. Epub ahead of print.
    • The prevalence of germline pathogenic variants in Estonian colorectal cancer patients: results from routine clinical setting 2016–2021.
    • Roht L, Tooming M, Rekker K, Roomere H, Toome K, Murumets Ü, Šamarina U, Õunap K, Kahre T.
    • Front Genet. 2022 Nov 8;12:1020543. doi: 10.3389/fgene.2022.1020543.
    • A genome-wide association study of mammographic texture variation.
    • Liu Y, Chen H, Heine J, Lindstrom S, Turman C, Warner ET, Winham SJ, Vachon CM, Tamimi RM, Kraft P, Jiang X.
    • Breast Cancer Res. 2022 Nov 7;24(1):76. doi: 10.1186/s13058-022-01570-8.
    • Lack of impact of the ALDH2 rs671 variant on breast cancer development in Japanese BRCA1/2-mutation carriers.
    • Mori T, Okamoto Y, Mu A, Ide Y, Yoshimura A, Senda N, Inagaki-Kawata Y, Kawashima M, Kitao H, Tokunaga E, Miyoshi Y, Ohsumi S, Tsugawa K, Ohta T, Katagiri T, Ohtsuru S, Koike K, Ogawa S, Toi M, Iwata H, Nakamura S, Matsuo K, Takata M.
    • Cancer Med. 2022 Nov 7. doi: 10.1002/cam4.5430. Epub ahead of print.
    • Canonical and uncanonical pathogenic germline variants in colorectal cancer patients by next-generation sequencing in a European referral center.
    • Poliani L, Greco L, Barile M, Buono AD, Bianchi P, Basso G, Giatti V, Genuardi M, Malesci A, Laghi L; Alliance Against Cancer.
    • ESMO Open. 2022 Nov 7;7(6):100607. doi: 10.1016/j.esmoop.2022.100607. Epub ahead of print.
    • Case report: Two sisters with a germline CHEK2 variant and distinct endocrine neoplasias.
    • Vallera RD, Ding Y, Hatanpaa KJ, Bishop JA, Mirfakhraee S, Alli AA, Tevosian SG, Tabebi M, Gimm O, Söderkvist P, Estrada-Zuniga C, Dahia PLM, Ghayee HK.
    • Front Endocrinol (Lausanne). 2022 Nov 7;13:1024108. doi: 10.3389/fendo.2022.1024108.
    • A common IGF1R gene variant predicts later life breast cancer risk in women with preeclampsia.
    • Powell M, Fuller S, Gunderson E, Benz C.
    • Breast Cancer Res Treat. 2022 Nov 4. doi: 10.1007/s10549-022-06789-9. Epub ahead of print.
    • Detection of microsatellite instability high (MSI-H) status by targeted plasma-based genotyping in metastatic breast cancer.
    • Vidula N, Lipman A, Kato S, Weipert C, Hesler K, Azzi G, Elkhanany A, Juric D, Rodriguez E, Faulkner C, Makhlouf P, Price K, O'Shaughnessy J, Bardia A.
    • NPJ Breast Cancer. 2022 Nov 4;8(1):117. doi: 10.1038/s41523-022-00490-2.
    • Concurrent Pathogenic Variants of BRCA1, MUTYH and CHEK2 in a Hereditary Cancer Family.
    • Agaoglu NB, Ng OH, Unal B, Dogan OA, Amanvermez U, Yildiz J, Doganay L, Ghazani A, Rana HQ.
    • Cancer Genet. 2022 Nov 1;268-269:128-136. doi: 10.1016/j.cancergen.2022.10.144. Epub ahead of print.
    • Case report
    • Olaparib Efficacy in Patients with Metastatic Castration-resistant Prostate Cancer and BRCA1, BRCA2 or ATM Alterations Identified by Testing Circulating Tumor DNA.
    • Matsubara N, de Bono J, Olmos D, Procopio G, Kawakami S, Ürün Y, van Alphen R, Flechon A, Carducci MA, Choi YD, Hotte SJ, Korbenfeld E, Kramer G, Agarwal N, Chi KN, Dearden S, Gresty C, Kang J, Poehlein C, Harrington EA, Hussain M.
    • Clin Cancer Res. 2022 Nov 1:CCR-21-3577. doi: 10.1158/1078-0432.CCR-21-3577. Epub ahead of print.

    •• Identifier: NCT02987543: Study of Olaparib (Lynparza™) Versus Enzalutamide or Abiraterone Acetate in Men With Metastatic Castration-Resistant Prostate Cancer (PROfound Study). (ClinicalTrials.gov . Accessed 2022 Nov 5.)

    • The prevalence of mismatch repair deficiency in ovarian cancer: A systematic review and meta-analysis.
    • Atwal A, Snowsill T, Dandy MC, Krum T, Newton C, Evans DG, Crosbie EJ, Ryan NAJ.
    • Int J Cancer. 2022 Nov 1;151(9):1626-1639. doi: 10.1002/ijc.34165. Epub 2022 Jul 6.
    • Cancer risks associated with heterozygous ATM loss of function and missense pathogenic variants based on multigene panel analysis.
    • Laitman Y, Nielsen SM, Bernstein-Molho R, Heald B, Hatchell KE, Esplin ED, Friedman E.
    • Breast Cancer Res Treat. 2022 Nov;196(2):355-361. doi: 10.1007/s10549-022-06723-z. Epub 2022 Sep 12.
    • Breast cancer polygenic risk scores are associated with short-term risk of poor prognosis breast cancer.
    • McCarthy AM, Manning AK, Hsu S, Welch M, Moy B, Lehman CD, Armstrong K.
    • Breast Cancer Res Treat. 2022 Nov;196(2):389-398. doi: 10.1007/s10549-022-06739-5. Epub 2022 Sep 22.
    • Somatic Inactivation of Breast Cancer Predisposition Genes in Tumours Associated with Pathogenic Germline Variants.
    • Lim BWX, Li N, Mahale S, Mcinerny S, Zethoven M, Rowley SM, Huynh J, Wang T, Lee JEA, Friedman M, Devereux L, Scott RJ, Sloan EK, James PA, Campbell IG.
    • J Natl Cancer Inst. 2022 Oct 31:djac196. doi: 10.1093/jnci/djac196. Epub ahead of print.
    • Overlapping gene dependencies for PARP inhibitors and carboplatin response identified by functional CRISPR-Cas9 screening in ovarian cancer.
    • Coelho R, Tozzi A, Disler M, Lombardo F, Fedier A, López MN, Freuler F, Jacob F, Heinzelmann-Schwarz V.
    • Cell Death Dis. 2022 Oct 28;13(10):909. doi: 10.1038/s41419-022-05347-x.
    • PARP Inhibitors in Metastatic Castration-Resistant Prostate Cancer: Whom to Treat?
    • Loguidice CT.
    • OncLive. 2022 Oct 28.
    • Platinum-based chemotherapy in locally advanced or metastatic pancreatic ductal adenocarcinoma (PDAC): summary of evidence and application in clinical practice.
    • Reinacher-Schick A, Arnold D, Venerito M, Goekkurt E, Kraeft AL, Seufferlein T.
    • Oncol Res Treat. 2022 Oct 28. doi: 10.1159/000527692. Epub ahead of print.
    • Review
    • DNA Repair Mechanisms, Protein Interactions and Therapeutic Targeting of the MRN Complex.
    • McCarthy-Leo C, Darwiche F, Tainsky MA.
    • Cancers (Basel). 2022 Oct 27;14(21):5278. doi: 10.3390/cancers14215278.
    • Comprehensive Clinical and Genetic Analysis of CHEK2 in Croatian Men with Prostate Cancer.
    • Kirchner K, Gamulin M, Kulis T, Sievers B, Kastelan Z, Lessel D.
    • Genes (Basel). 2022 Oct 27;13(11):1955. doi: 10.3390/genes13111955.
    • Mitomycin C in Homologous Recombination Deficient Metastatic Pancreatic Cancer after Disease Progression on Platinum-Based Chemotherapy and Olaparib.
    • Botrus G, Roe D, Jameson GS, Serrano Uson Junior PL, Korn RL, Caldwell L, Bargenquast T, Miller M, Borazanci EH.
    • Biomedicines. 2022 Oct 26;10(11):2705. doi: 10.3390/biomedicines10112705.
    • Adolescent Triple-negative Breast Cancer with Germline Pathogenic Variants in both BRCA1 and TP53 Genes: A Case Report.
    • Chen D, Yuan M, Zhang Y, Zhang C, Wan D.
    • Front Oncol. 2022 Oct 26;12:970641. doi: 10.3389/fonc.2022.970641.
    • Methylation of promoter region of BRCA1 gene versus pathogenic variants of gene: risk factor or clinical marker of breast cancer.
    • Lobanova O, Medvedieva N, Fishchuk L, Dubitska O, Cheshuk V, Vereshchako R, Zakhartseva L, Rossokha Z, Gorovenko N.
    • Breast Cancer Res Treat. 2022 Oct 25. doi: 10.1007/s10549-022-06774-2. Epub ahead of print.
    • PredictCBC-2.0: a contralateral breast cancer risk prediction model developed and validated in ~ 200,000 patients.
    • Giardiello D, Hooning MJ, Hauptmann M, Keeman R, Heemskerk-Gerritsen BAM, Becher H, Blomqvist C, Bojesen SE, Bolla MK, Camp NJ, Czene K, Devilee P, Eccles DM, Fasching PA, Figueroa JD, Flyger H, García-Closas M, Haiman CA, Hamann U, Hopper JL, Jakubowska A, Leeuwen FE, Lindblom A, Lubinski J, Margolin S, Martinez ME, Nevanlinna H, Nevelsteen I, Pelders S, Pharoah PDP, Siesling S, Southey MC, van der Hout AH, van Hest LP, Chang-Claude J, Hall P, Easton DF, Steyerberg EW, Schmidt MK.
    • Breast Cancer Res. 2022 Oct 21;24(1):69. doi: 10.1186/s13058-022-01567-3.
    • Clinical and molecular characteristics of ARIEL3 patients who derived exceptional benefit from rucaparib maintenance treatment for high-grade ovarian carcinoma.
    • O'Malley DM, Oza AM, Lorusso D, Aghajanian C, Oaknin A, Dean A, Colombo N, Weberpals JI, Clamp AR, Scambia G, Leary A, Holloway RW, Gancedo MA, Fong PC, Goh JC, Swisher EM, Maloney L, Goble S, Lin KK, Kwan T, Ledermann JA, Coleman RL.
    • Gynecol Oncol. 2022 Oct 20:S0090-8258(22)00575-3. doi: 10.1016/j.ygyno.2022.08.021. Epub ahead of print.

    Identifier: NCT01968213: A Study of Rucaparib as Switch Maintenance Following Platinum-Based Chemotherapy in Patients With Platinum-Sensitive, High-Grade Serous or Endometrioid Epithelial Ovarian, Primary Peritoneal or Fallopian Tube Cancer (ARIEL3). (ClinicalTrials.gov . Accessed 2022 Oct 22.)

    • APC germline pathogenic variants and epithelial ovarian cancer: causal or coincidental findings?
    • Vibert R, Le Gall J, Buecher B, Mouret-Fourme E, Bataillon G, Becette V, Trabelsi-Grati O, Moncoutier V, Dehainault C, Carriere J, Schwartz M, Suybeng V, Bieche I, Colas C, Vincent-Salomon A, Stoppa-Lyonnet D, Golmard L.
    • J Med Genet. 2022 Oct 21:jmedgenet-2022-108467. doi: 10.1136/jmg-2022-108467. Epub ahead of print.
    • Case report
    • Risk reduction and screening of cancer in hereditary breast-ovarian cancer syndromes: ESMO Clinical Practice Guideline.
    • Sessa C, Balmaña J, Bober SL, Cardoso MJ, Colombo N, Curigliano G, Domchek SM, Evans DG, Fischerova D, Harbeck N, Kuhl C, Lemley B, Levy-Lahad E, Lambertini M, Ledermann JA, Loibl S, Phillips KA, Shimon P; ESMO Guidelines Committee.
    • Ann Oncol. 2022 Oct 19:S0923-7534(22)04193-X. doi: 10.1016/j.annonc.2022.10.004. Epub ahead of print.
    • Links between Breast and Thyroid Cancer: Hormones, Genetic Susceptibility and Medical Interventions.
    • Lu M, Liu H, Zheng B, Sun S, Chen C.
    • Cancers (Basel). 2022 Oct 19;14(20):5117. doi: 10.3390/cancers14205117.
    • Polygenic Risk Scores Could Refine Breast Cancer Screening Recommendations.
    • Curtin C.
    • Precision Oncology News. 2022 Oct 17.
    • Research news
    • Effect of HIPEC according to HRD/BRCAwt genomic profile in stage III ovarian cancer: Results from the phase III OVHIPEC trial.
    • Koole SN, Schouten PC, Hauke J, Kluin RJC, Nederlof P, Richters LK, Krebsbach G, Sikorska K, Alkemade M, Opdam M, Schagen van Leeuwen JH, Schreuder HWR, Hermans RHM, de Hingh IHJT, Mom CH, Arts HJG, van Ham M, van Dam P, Vuylsteke P, Sanders J, Horlings HM, van de Vijver KK, Hahnen E, van Driel WJ, Schmutzler R, Sonke GS, Linn SC.
    • Int J Cancer. 2022 Oct 15;151(8):1394-1404. doi: 10.1002/ijc.34124. Epub 2022 Jun 4.

    Comment, Letter:

    Comments on "Effect of HIPEC according to HRD/BRCAwt genomic profile in stage III ovarian cancer: Results from the phase III OVHIPEC trial".

    Reply, Letter:

    Reply to: Comments on "Effect of HIPEC according to HRD/BRCAwt genomic profile in stage III ovarian cancer: Results from the phase III OVHIPEC trial".

    • MAPK Pathway Genetic Alterations Are Associated with Prolonged Overall Survival in Low-Grade Serous Ovarian Carcinoma.
    • Manning-Geist B, Gordhandas S, Liu YL, Zhou Q, Iasonos A, Da Cruz Paula A, Mandelker D, Roche KL, Zivanovic O, Maio A, Kemel Y, Chi DS, O'Cearbhaill RE, Aghajanian C, Weigelt B, Chui MH, Grisham RN.
    • Clin Cancer Res. 2022 Oct 14;28(20):4456-4465. doi: 10.1158/1078-0432.CCR-21-4183.

    Commentary:

    Taking the Road Less Traveled: Following Molecular Trail Markers.

    • An updated counseling framework for moderate-penetrance colorectal cancer susceptibility genes.
    • Breen KE, Katona BW, Catchings A, Ranganathan M, Marcell V, Latham A, Yurgelun MB, Stadler ZK.
    • Genet Med. 2022 Oct 12:S1098-3600(22)00918-2. doi: 10.1016/j.gim.2022.08.027. Epub ahead of print.
    • Genetic Testing Challenges in Oncology: Missed Variant Update Delays Li-Fraumeni Diagnosis.
    • Ray T.
    • Precision Oncology News. 2022 Oct 12.

    Special article:

    Is there a duty to reinterpret genetic data? The ethical dimensions.

    • A novel germline mutation of TP53 with breast cancer diagnosed as Li-Fraumeni syndrome.
    • Kai M, Kubo M, Shikada S, Hayashi S, Morisaki T, Yamada M, Takao Y, Shimazaki A, Harada Y, Kaneshiro K, Mizuuchi Y, Shindo K, Nakamura M.
    • Surg Case Rep. 2022 Oct 11;8(1):197. doi: 10.1186/s40792-022-01546-y.
    • Copy Number Variants Are Ovarian Cancer Risk Alleles at Known and Novel Risk Loci.
    • DeVries AA, Dennis J, Tyrer JP, Peng PC, Coetzee SG, Reyes AL, Plummer JT, Davis BD, Chen SS, Dezem FS, Aben KKH, Anton-Culver H, Antonenkova NN, Beckmann MW, Beeghly-Fadiel A, Berchuck A, Bogdanova NV, Bogdanova-Markov N, Brenton JD, Butzow R, Campbell I, Chang-Claude J, Chenevix-Trench G, Cook LS, DeFazio A, Doherty JA, Dörk T, Eccles DM, Eliassen AH, Fasching PA, Fortner RT, Giles GG, Goode EL, Goodman MT, Gronwald J; OPAL Study Group; AOCS Group, Håkansson N, Hildebrandt MAT, Huff C, Huntsman DG, Jensen A, Kar S, Karlan BY, Khusnutdinova EK, Kiemeney LA, Kjaer SK, Kupryjanczyk J, Labrie M, Lambrechts D, Le ND, Lubinski J, May T, Menon U, Milne RL, Modugno F, Monteiro AN, Moysich KB, Odunsi K, Olsson H, Pearce CL, Pejovic T, Ramus SJ, Riboli E, Riggan MJ, Romieu I, Sandler DP, Schildkraut JM, Setiawan VW, Sieh W, Song H, Sutphen R, Terry KL, Thompson PJ, Titus L, Tworoger SS, Van Nieuwenhuysen E, Edwards DV, Webb PM, Wentzensen N, Whittemore AS, Wolk A, Wu AH, Ziogas A, Freedman ML, Lawrenson K, Pharoah PDP, Easton DF, Gayther SA, Jones MR.
    • J Natl Cancer Inst. 2022 Oct 10:djac160. doi: 10.1093/jnci/djac160. Epub ahead of print.
    • Segregation analysis of 17,425 population-based breast cancer families: Evidence for genetic susceptibility and risk prediction.
    • Li S, MacInnis RJ, Lee A, Nguyen-Dumont T, Dorling L, Carvalho S, Dite GS, Shah M, Luccarini C, Wang Q, Milne RL, Jenkins MA, Giles GG, Dunning AM, Pharoah PDP, Southey MC, Easton DF, Hopper JL, Antoniou AC.
    • Am J Hum Genet. 2022 Oct 6;109(10):1777-1788. doi: 10.1016/j.ajhg.2022.09.006.

    Research news: Breast Cancer Risk Contributors, Remaining Gaps Found With Familial Analyses. (GenomeWeb)

    • Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.
    • Hakkaart C, Pearson JF, Marquart L, Dennis J, Wiggins GAR, Barnes DR, Robinson BA, Mace PD, Aittomäki K, Andrulis IL, Arun BK, Azzollini J, Balmaña J, Barkardottir RB, Belhadj S, Berger L, Blok MJ, Boonen SE, Borde J, Bradbury AR, Brunet J, Buys SS, Caligo MA, Campbell I, Chung WK, Claes KBM; GEMO Study Collaborators; EMBRACE Collaborators, Collonge-Rame MA, Cook J, Cosgrove C, Couch FJ, Daly MB, Dandiker S, Davidson R, de la Hoya M, de Putter R, Delnatte C, Dhawan M, Diez O, Ding YC, Domchek SM, Donaldson A, Eason J, Easton DF, Ehrencrona H, Engel C, Evans DG, Faust U, Feliubadaló L, Fostira F, Friedman E, Frone M, Frost D, Garber J, Gayther SA, Gehrig A, Gesta P, Godwin AK, Goldgar DE, Greene MH, Hahnen E, Hake CR, Hamann U, Hansen TVO, Hauke J, Hentschel J, Herold N, Honisch E, Hulick PJ, Imyanitov EN; SWE-BRCA Investigators; kConFab Investigators; HEBON Investigators, Isaacs C, Izatt L, Izquierdo A, Jakubowska A, James PA, Janavicius R, John EM, Joseph V, Karlan BY, Kemp Z, Kirk J, Konstantopoulou I, Koudijs M, Kwong A, Laitman Y, Lalloo F, Lasset C, Lautrup C, Lazaro C, Legrand C, Leslie G, Lesueur F, Mai PL, Manoukian S, Mari V, Martens JWM, McGuffog L, Mebirouk N, Meindl A, Miller A, Montagna M, Moserle L, Mouret-Fourme E, Musgrave H, Nambot S, Nathanson KL, Neuhausen SL, Nevanlinna H, Yie JNY, Nguyen-Dumont T, Nikitina-Zake L, Offit K, Olah E, Olopade OI, Osorio A, Ott CE, Park SK, Parsons MT, Pedersen IS, Peixoto A, Perez-Segura P, Peterlongo P, Pocza T, Radice P, Ramser J, Rantala J, Rodriguez GC, Rønlund K, Rosenberg EH, Rossing M, Schmutzler RK, Shah PD, Sharif S, Sharma P, Side LE, Simard J, Singer CF, Snape K, Steinemann D, Stoppa-Lyonnet D, Sutter C, Tan YY, Teixeira MR, Teo SH, Thomassen M, Thull DL, Tischkowitz M, Toland AE, Trainer AH, Tripathi V, Tung N, van Engelen K, van Rensburg EJ, Vega A, Viel A, Walker L, Weitzel JN, Wevers MR, Chenevix-Trench G, Spurdle AB, Antoniou AC, Walker LC.
    • Commun Biol. 2022 Oct 6;5(1):1061. doi: 10.1038/s42003-022-03978-6.
    • Germline variants in cancer-predisposing genes in pancreatic cancer patients with a family history of cancer.
    • Terashima T, Morizane C, Ushiama M, Shiba S, Takahashi H, Ikeda M, Mizuno N, Tsuji K, Yasui K, Azemoto N, Satake H, Nomura S, Yachida S, Sugano K, Furuse J.
    • Jpn J Clin Oncol. 2022 Oct 6;52(10):1105-1114. doi: 10.1093/jjco/hyac110.
    • Six Case Reports of NTHL1-Associated Tumor Syndrome Further Support it as a Multi-Tumor Predisposition Syndrome.
    • Weatherill CB, Burke SA, Haskins CG, Berry DK, Homer JP, Demeure MJ, Darabi S.
    • Clin Genet. 2022 Oct 4. doi: 10.1111/cge.14242. Epub ahead of print.
    • Case report
    • Genodermatoses – Opportunities for Early Detection and Cancer Prevention.
    • Carley H, Kulkarni A.
    • Curr Genet Med Rep. 2022 [2022 Oct 4];10(1):1-13. doi: 10.1007/s40142-022-00203-y. Epub 2022 Oct 4.
    • Moderate-Risk Genes for Hereditary Ovarian Cancers Involved in the Homologous Recombination Repair Pathway.
    • Abe A, Imoto I, Ueki A, Nomura H, Kanao H.
    • Int J Mol Sci. 2022 Oct 4;23(19):11790. doi: 10.3390/ijms231911790.
    • Rucaparib Meets rPFS End Point in BRCA/ATM-Mutated mCRPC.
    • Ryan C.
    • OncLive. 2022 Oct 3.

    Identifier: NCT02975934: A Study of Rucaparib Versus Physician's Choice of Therapy in Patients With Metastatic Castration-resistant Prostate Cancer and Homologous Recombination Gene Deficiency (TRITON3). (ClinicalTrials.gov . Accessed 2022 Oct 5.)

    • Incidence of Occult Breast Cancer in Carriers of BRCA1/2 or Other High-Penetrance Pathogenic Variants Undergoing Prophylactic Mastectomy: When is Sentinel Lymph Node Biopsy Indicated?
    • Wong SM, Ferroum A, Apostolova C, Alhassan B, Prakash I, Basik M, Boileau JF, Meterissian S, Aleynikova O, Wong N, Foulkes WD.
    • Ann Surg Oncol. 2022 Oct;29(11):6660-6668. doi: 10.1245/s10434-022-11916-3. Epub 2022 May 26.
    • Moderate penetrance genes complicate genetic testing for breast cancer diagnosis: ATM, CHEK2, BARD1 and RAD51D.
    • Graffeo R, Rana HQ, Conforti F, Bonanni B, Cardoso MJ, Paluch-Shimon S, Pagani O, Goldhirsch A, Partridge AH, Lambertini M, Garber JE.
    • Breast. 2022 Oct;65:32-40. doi: 10.1016/j.breast.2022.06.003. Epub 2022 Jun 18.
    • Risk of ipsilateral breast tumor recurrence and contralateral breast cancer in patients with and without TP53 variant in a large series of breast cancer patients.
    • Guo Y, Wan Q, Ouyang T, Li J, Wang T, Fan Z, Xie Y.
    • Breast. 2022 Oct;65:55-60. doi: 10.1016/j.breast.2022.07.002. Epub 2022 Jul 7.
    • Detection of a pathogenic Alu element insertion in PALB2 gene from targeted NGS diagnostic data.
    • Eyries M, Ariste O, Legrand G, Basset N, Guillerm E, Perrier A, Duros C, Cohen-Haguenauer O, de la Grange P, Coulet F.
    • Eur J Hum Genet. 2022 Oct;30(10):1187-1190. doi: 10.1038/s41431-022-01064-3. Epub 2022 Mar 11.
    • Case report
    • Low BRCA1 and BRCA2 Germline Mutation Rates in a French-Canadian Population with a Diagnosis of Epithelial Tubo-Ovarian Carcinoma.
    • Bernard J, Mehros W, Gregoire J, Douville P, Renaud MC, Sebastianelli A, Langlais EL, Plante M.
    • J Obstet Gynaecol Can. 2022 Oct;44(10):1047-1053. doi: 10.1016/j.jogc.2022.06.005. Epub 2022 Jun 30.
    • A phase II study of talazoparib monotherapy in patients with wild-type BRCA1 and BRCA2 with a mutation in other homologous recombination genes.
    • Gruber JJ, Afghahi A, Timms K, DeWees A, Gross W, Aushev VN, Wu HT, Balcioglu M, Sethi H, Scott D, Foran J, McMillan A, Ford JM, Telli ML.
    • Nat Cancer. 2022 Oct;3(10):1181-1191. doi: 10.1038/s43018-022-00439-1. Epub 2022 Oct 17.

    •• Identifier: NCT02401347: Phase II Trial of Talazoparib in BRCA1/2 Wild-type HER2-negative Breast Cancer and Other Solid Tumors. (ClinicalTrials.gov . Accessed 2022 Oct 18.)

    •• Identifier: NCT04756765: Talazoparib Monotherapy in PALB2 Mutation Associated Advanced Breast Cancer. (ClinicalTrials.gov . Accessed 2022 Oct 18.)

    •• Research news: Study Suggests a PARP Inhibitors Has Wider Cancer Applications. (Inside Precision Medicine)

    • Durable response to olaparib combined low-dose cisplatin in advanced hepatocellular carcinoma with FANCA mutation: A case report.
    • Lai YH, Tung KC, Chen SC.
    • Medicine (Baltimore). 2022 Sep 30;101(39):e30719. doi: 10.1097/MD.0000000000030719.
    • PARP Inhibitors in Advanced Prostate Cancer in Tumors with DNA Damage Signatures.
    • McNevin CS, Cadoo K, Baird AM, Finn SP, McDermott R.
    • Cancers (Basel). 2022 Sep 29;14(19):4751. doi: 10.3390/cancers14194751.
    • Increased Co-Occurrence of Pathogenic Variants in Hereditary Breast and Ovarian Cancer and Lynch Syndromes: A Consequence of Multigene Panel Genetic Testing?
    • Infante M, Arranz-Ledo M, Lastra E, Abella LE, Ferreira R, Orozco M, Hernández L, Martínez N, Durán M.
    • Int J Mol Sci. 2022 Sep 29;23(19):11499. doi: 10.3390/ijms231911499.
    • A Large Case-Control Study Performed in Spanish Population Suggests That RECQL5 Is the Only RECQ Helicase Involved in Breast Cancer Susceptibility.
    • Marchena-Perea EM, Salazar-Hidalgo ME, Gómez-Sanz A, Arranz-Ledo M, Barroso A, Fernández V, Tejera-Pérez H, Pita G, Núñez-Torres R, Pombo L, Morales-Chamorro R, Cano-Cano JM, Soriano MDC, Garre P, Durán M, Currás-Freixes M, de la Hoya M, Osorio A.
    • Cancers (Basel). 2022 Sep 28;14(19):4738. doi: 10.3390/cancers14194738.
    • Frequent cleft lip and palate in families with pathogenic germline CDH1 variants.
    • Green BL, Fasaye GA, Samaranayake SG, Duemler A, Gamble LA, Davis JL.
    • Front Genet. 2022 Sep 28;13:1012025. doi: 10.3389/fgene.2022.1012025.
    • Inherited heterozygous Fanconi anemia gene mutations in a therapy-related CMML patient with a rare NUP98-HOXC11 fusion: a case report and literature review.
    • Shen K, Zhang M, Wang J, Mu W, Wang J, Wang C, Xing S, Hong Z, Xiao M.
    • Front Oncol. 2022 Sep 28;12:1036511. doi: 10.3389/fonc.2022.1036511.
    • High detection rate from genetic testing in BRCA-negative women with familial epithelial ovarian cancer.
    • Flaum N, Crosbie EJ, Edmondson R, Woodward ER, Lalloo F, Smith MJ, Schlecht H, Evans DG.
    • Genet Med. 2022 Sep 28:S1098-3600(22)00913-3. doi: 10.1016/j.gim.2022.08.022. Epub ahead of print.
    • Cancer risks by sex and variant type in PTEN Hamartoma Tumor Syndrome.
    • Hendricks LAJ, Hoogerbrugge N, Mensenkamp AR, Brunet J, Lleuger-Pujol R, Høberg-Vetti H, Haavind MT, Innella G, Turchetti D, Aretz S, Spier I, Tischkowitz M, Jahn A, Links TP, Olderode-Berends MJW, Blatnik A, Leter EM, Evans DG, Woodward ER, Steinke-Lange V, Anastasiadou VC, Colas C, Villy MC, Benusiglio PR, Gerasimenko A, Barili V, Branchaud M, Houdayer C, Tesi B, Yazicioglu MO, van der Post RS, Schuurs-Hoeijmakers JHM; PTEN Study Group, Vos JR.
    • J Natl Cancer Inst. 2022 Sep 28:djac188. doi: 10.1093/jnci/djac188. Epub ahead of print.
    • Assessment of small in-frame indels and C-terminal nonsense variants of BRCA1 using a validated functional assay.
    • Nepomuceno TC, Dos Santos APP, Fernandes VC, Elias ABR, Gomes TT, Suarez-Kurtz G, Iversen ES Jr, Couch FJ, Monteiro ANA, Carvalho MA.
    • Sci Rep. 2022 Sep 28;12(1):16203. doi: 10.1038/s41598-022-20500-4.
    • Alterations in Homologous Recombination-Related Genes and Distinct Platinum Response in Metastatic Triple-Negative Breast Cancers: A Subgroup Analysis of the ProfiLER-01 Trial.
    • Bonnet E, Haddad V, Quesada S, Baffert KA, Lardy-Cléaud A, Treilleux I, Pissaloux D, Attignon V, Wang Q, Buisson A, Heudel PE, Bachelot T, Dufresne A, Eberst L, Toussaint P, Bonadona V, Lasset C, Viari A, Sohier E, Paindavoine S, Combaret V, Pérol D, Ray-Coquard I, Blay JY, Trédan O.
    • J Pers Med. 2022 Sep 27;12(10):1595. doi: 10.3390/jpm12101595.
    • ATM c.7570G>C is a high-risk allele for breast cancer.
    • Kankuri-Tammilehto M, Tervasmäki A, Kraatari-Tiri M, Rahikkala E, Pylkäs K, Kuismin O.
    • Int J Cancer. 2022 Sep 26. doi: 10.1002/ijc.34305. Epub ahead of print.
    • Enhancing the BOADICEA cancer risk prediction model to incorporate new data on RAD51C, RAD51D, BARD1 updates to tumour pathology and cancer incidence.
    • Lee A, Mavaddat N, Cunningham A, Carver T, Ficorella L, Archer S, Walter FM, Tischkowitz M, Roberts J, Usher-Smith J, Simard J, Schmidt MK, Devilee P, Zadnik V, Jürgens H, Mouret-Fourme E, De Pauw A, Rookus M, Mooij TM, Pharoah PP, Easton DF, Antoniou AC.
    • J Med Genet. 2022 Sep 26:jmedgenet-2022-108471. doi: 10.1136/jmedgenet-2022-108471. Epub ahead of print.
    • Prospective validation of the BOADICEA multifactorial breast cancer risk prediction model in a large prospective cohort study.
    • Yang X, Eriksson M, Czene K, Lee A, Leslie G, Lush M, Wang J, Dennis J, Dorling L, Carvalho S, Mavaddat N, Simard J, Schmidt MK, Easton DF, Hall P, Antoniou AC.
    • J Med Genet. 2022 Sep 26:jmg-2022-108806. doi: 10.1136/jmg-2022-108806. Epub ahead of print.
    • Germline Variants in 32 Cancer-Related Genes among 700 Chinese Breast Cancer Patients by Next-Generation Sequencing: A Clinic-Based, Observational Study.
    • Yang L, Xie F, Liu C, Zhao J, Hu T, Wu J, Zhao X, Wang S.
    • Int J Mol Sci. 2022 Sep 24;23(19):11266. doi: 10.3390/ijms231911266.
    • Differences in Cancer Phenotypes Among Frequent CHEK2 Variants and Implications for Clinical Care-Checking CHEK2.
    • Bychkovsky BL, Agaoglu NB, Horton C, Zhou J, Yussuf A, Hemyari P, Richardson ME, Young C, LaDuca H, McGuinness DL, Scheib R, Garber JE, Rana HQ.
    • JAMA Oncol. 2022 Sep 22. doi: 10.1001/jamaoncol.2022.4071. Epub ahead of print.
    • Clinical applicability of the Polygenic Risk Score for breast cancer risk prediction in familial cases.
    • Lakeman IMM, Rodríguez-Girondo MDM, Lee A, Celosse N, Braspenning ME, van Engelen K, van de Beek I, van der Hout AH, Gómez García EB, Mensenkamp AR, Ausems MGEM, Hooning MJ, Adank MA, Hollestelle A, Schmidt MK, van Asperen CJ, Devilee P.
    • J Med Genet. 2022 Sep 22:jmedgenet-2022-108502. doi: 10.1136/jmg-2022-108502. Epub ahead of print.

    Research news: Polygenic Risk Scores Could Refine Breast Cancer Screening Recommendations. (Precision Oncology News)

    • Homologous recombination-deficient mutation cluster in tumor suppressor RAD51C identified by comprehensive analysis of cancer variants.
    • Prakash R, Rawal Y, Sullivan MR, Grundy MK, Bret H, Mihalevic MJ, Rein HL, Baird JM, Darrah K, Zhang F, Wang R, Traina TA, Radke MR, Kaufmann SH, Swisher EM, Guérois R, Modesti M, Sung P, Jasin M, Bernstein KA.
    • Proc Natl Acad Sci U S A. 2022 Sep 20;119(38):e2202727119. doi: 10.1073/pnas.2202727119. Epub 2022 Sep 13.
    • A systematic review exploring the role of modern radiation for the treatment of Hereditary or Familial Breast Cancer.
    • Goel V, Sharma D, Sharma A, Mallick S.
    • Radiother Oncol. 2022 Sep 19;176:59-67. doi: 10.1016/j.radonc.2022.09.007. Epub ahead of print.
    • Review
    • Risk of developing a second primary cancer in male breast cancer survivors: a systematic review and meta-analysis.
    • Allen I, Hassan H, Sofianopoulou E, Eccles D, Turnbull C, Tischkowitz M, Pharoah P, Antoniou AC.
    • Br J Cancer. 2022 Sep 17. doi: 10.1038/s41416-022-01940-1. Epub ahead of print.
    • Genetic Risk of Second Primary Cancer in Breast Cancer Survivors: The Multiethnic Cohort Study.
    • Chen F, Park SL, Wilkens LR, Wan P, Hart SN, Hu C, Yadav S, Couch FJ, Conti DV, de Smith AJ, Haiman CA.
    • Cancer Res. 2022 Sep 16;82(18):3201-3208. doi: 10.1158/0008-5472.CAN-21-4461.
    • Targeted Sequencing of Germline Breast Cancer Susceptibility Genes for Discovering Pathogenic/Likely Pathogenic Variants in the Jakarta Population.
    • Panigoro SS, Paramita RI, Siswiandari KM, Fadilah F.
    • Diagnostics (Basel). 2022 Sep 16;12(9):2241. doi: 10.3390/diagnostics12092241.
    • Identifying the BRCA1 c.-107A > T variant in Dutch patients with a tumor BRCA1 promoter.
    • de Jong VMT, Pruntel R, Steenbruggen TG, Bleeker FE, Nederlof P, Hogervorst FBL, linn SC.
    • Fam Cancer. 2022 Sep 16. doi: 10.1007/s10689-022-00314-z. Epub ahead of print.
    • Contribution of germline PALB2 variants to an unselected and prospectively registered pancreatic cancer patient cohort in Pakistan.
    • Muhammad N, Sadaqat R, Naeemi H, Masood I, Hassan U, Ijaz B, Hanif F, Syed AA, Yusuf MA, Rashid MU.
    • HPB (Oxford). 2022 Sep 15:S1365-182X(22)01593-3. doi: 10.1016/j.hpb.2022.09.003. Epub ahead of print.
    • Pan-cancer analysis of co-occurring mutations in RAD52 and the BRCA1-BRCA2-PALB2 axis in human cancers.
    • Hamid AB, Frank LE, Bouley RA, Petreaca RC.
    • PLoS One. 2022 Sep 15;17(9):e0273736. doi: 10.1371/journal.pone.0273736.
    • Genetic and functional homologous repair deficiency as biomarkers for platinum sensitivity in TNBC: a case report.
    • Gomez-Puerto D, Llop-Guevara A, Cruellas M, Torres-Esquius S, De La Torre J, Peg V, Balmaña J, Pimentel I.
    • Front Oncol. 2022 Sep 14;12:963728. doi: 10.3389/fonc.2022.963728.
    • Other Primary Malignancies in Patients with Breast Cancer Who Undergo Germline Panel Testing.
    • Murphy BL, Yi M, Gutierrez Barrera AM, Tripathy D, Hunt KK, Arun BK.
    • Ann Surg Oncol. 2022 Sep 12. doi: 10.1245/s10434-022-12468-2. Epub ahead of print.
    • Fanconi Anemia caused by biallelic inactivation of BRCA2 can present with an atypical cancer phenotype in adulthood.
    • Maxwell KN, Patel V, Nead KT, Merrill S, Clark D, Jiang Q, Wubbenhorst B, D'Andrea K, Cohen RB, Domchek SM, Morrissette JJD, Greenberg RA, Babushok DV, Nathanson KL.
    • Clin Genet. 2022 Sep 12. doi: 10.1111/cge.14231. Epub ahead of print.
    • Case report
    • Whole-exome sequencing reveals a comprehensive germline mutation landscape and identifies twelve novel predisposition genes in Chinese prostate cancer patients.
    • Liang Y, Chiu PK, Zhu Y, Wong CY, Xiong Q, Wang L, Teoh JY, Cao Q, Wei Y, Ye DW, Tsui SK, Ng CF.
    • PLoS Genet. 2022 Sep 12;18(9):e1010373. doi: 10.1371/journal.pgen.1010373.
    • Multicenter Real-World Data of Subsequent Chemotherapy after Progression to PARP Inhibitors in a Maintenance Relapse Setting.
    • Romeo M, Gil-Martín M, Gaba L, Teruel I, Taus Á, Fina C, Masvidal M, Murata P, Fernández-Plana J, Martínez A, Pérez C, García Y, Rodriguez V, Cros S, Parera M, Zanui M, Catot S, Pardo B, Plaja A, Esteve A, Barretina-Ginesta MP.
    • Cancers (Basel). 2022 Sep 11;14(18):4414. doi: 10.3390/cancers14184414.
    • CDH1 (E-cadherin) Gene Methylation in Human Breast Cancer: Critical Appraisal of a Long and Twisted Story.
    • Bücker L, Lehmann U.
    • Cancers (Basel). 2022 Sep 8;14(18):4377. doi: 10.3390/cancers14184377.
    • Constitutional BRCA1 Methylation and Risk of Incident Triple-Negative Breast Cancer and High-grade Serous Ovarian Cancer.
    • Lønning PE, Nikolaienko O, Pan K, Kurian AW, Eikesdal HP, Pettinger M, Anderson GL, Prentice RL, Chlebowski RT, Knappskog S.
    • JAMA Oncol. 2022 Sep 8. doi: 10.1001/jamaoncol.2022.3846. Epub ahead of print.
    • Constitutional Mosaicism: A Critical Issue in the Definition of BRCA-Inherited Cancer Risk.
    • Tenedini E, Piana S, Toss A, Marino M, Barbieri E, Artuso L, Venturelli M, Gasparini E, Mandato VD, Marchi I, Castellano S, Luppi M, Trenti T, Cortesi L, Tagliafico E.
    • JCO Precis Oncol. 2022 Aug [2022 Sep 8];6:e2200138. doi: 10.1200/PO.22.00138.
    • Frequent abnormal pancreas imaging in patients with pathogenic ATM, BRCA1, BRCA2, and PALB2 breast cancer susceptibility variants.
    • Lucas AL, Fu Y, Labiner A, DiMaio CJ, Sethi A, Kastrinos F.
    • Clin Gastroenterol Hepatol. 2022 Sep 7:S1542-3565(22)00836-9. doi: 10.1016/j.cgh.2022.08.040. Epub ahead of print.
    • Survey
    • Prophylactic mastectomy and occult malignancy: Surgical and imaging considerations.
    • Thompson JL, Sinco BR, McCaffrey RL, Chang AE, Sabel MS, Dossett LA, Hughes TM, Jeruss JS.
    • J Surg Oncol. 2022 Sep 7. doi: 10.1002/jso.27088. Epub ahead of print.
    • Next-generation sequencing based detection of BRCA1 and BRCA2 large genomic rearrangements in Chinese cancer patients.
    • Hua D, Tian Q, Wang X, Bei T, Cui L, Zhang B, Bao C, Bai Y, Zhao X, Yuan P.
    • Front Oncol. 2022 Sep 6;12:898916. doi: 10.3389/fonc.2022.898916.
    • Low-level constitutional mosaicism of BRCA1 in two women with young onset ovarian cancer.
    • Speight B, Colvin E, Epurescu ED, Drummond J, Verhoef S, Pereira M, Evans DG, Tischkowitz M.
    • Hered Cancer Clin Pract. 2022 Sep 6;20(1):32. doi: 10.1186/s13053-022-00237-x.
    • PARP Inhibitors for Breast Cancer: Germline BRCA1/2 and Beyond.
    • Menezes MCS, Raheem F, Mina L, Ernst B, Batalini F.
    • Cancers (Basel). 2022 Sep 5;14(17):4332. doi: 10.3390/cancers14174332.
    • Association between germline pathogenic variants in cancer-predisposing genes and lymphoma risk.
    • Usui Y, Iwasaki Y, Matsuo K, Endo M, Kamatani Y, Hirata M, Sugano K, Yoshida T, Matsuda K, Murakami Y, Maeda Y, Nakagawa H, Momozawa Y.
    • Cancer Sci. 2022 Sep 5. doi: 10.1111/cas.15522. Epub ahead of print.
    • A progressive and refractory case of breast cancer with Cowden syndrome.
    • Sueta A, Takeno M, Goto-Yamaguchi L, Tomiguchi M, Inao T, Yamamoto-Ibusuki M, Yamamoto Y.
    • World J Surg Oncol. 2022 Sep 3;20(1):279. doi: 10.1186/s12957-022-02745-5.
    • Genetics of testicular cancer: a review.
    • Martin FC, Conduit C, Loveland KL, Thomas B, Lewin J, Tran B.
    • Curr Opin Urol. 2022 Sep 1;32(5):481-487. doi: 10.1097/MOU.0000000000001017. Epub 2022 Jul 18.
    • Review
    • Hereditary Cancer Syndromes-A Broader Clinical Spectrum Than Previously Understood?
    • Puthanmadhom Narayanan S, Najjar YG.
    • JAMA Oncol. 2022 Sep 1. doi: 10.1001/jamaoncol.2022.3776. Epub ahead of print.
    • Comment, Letter

    Reply, Letter:

    Hereditary Cancer Syndromes-A Broader Clinical Spectrum Than Previously Understood?-Reply.

    Original research:

    Association of Pathogenic Variants in Hereditary Cancer Genes With Multiple Diseases.

    • BAP1-defficient breast cancer in a patient with BAP1 cancer syndrome.
    • Blatnik A, Ribnikar D, Šetrajcic Dragoš V, Novakovic S, Stegel V, Grcar Kuzmanov B, Boc N, Peric B, Škerl P, Klancar G, Krajc M.
    • Breast Cancer. 2022 Sep;29(5):921-927. doi: 10.1007/s12282-022-01354-0. Epub 2022 Apr 5.
    • Frequency and clinical features of deficient mismatch repair in ovarian clear cell and endometrioid carcinoma.
    • Tanaka T, Takehara K, Yamashita N, Okazawa-Sakai M, Kuraoka K, Teramoto N, Taguchi K, Yamashiro K, Kato H, Mizunoe T, Suzuki R, Yamamoto D, Ueki A, Saito T.
    • J Gynecol Oncol. 2022 Sep;33(5):e67. doi: 10.3802/jgo.2022.33.e67.
    • Catastrophic chemotherapy toxicity leading to diagnosis of Fanconi anaemia due to FANCD1/BRCA2 during adulthood: description of an emerging phenotype.
    • Ip E, McNeil C, Grimison P, Scheinberg T, Tudini E, Ho G, Scott RJ, Brown C, Sandroussi C, Guitera P, Spurdle AB, Goodwin A.
    • J Med Genet. 2022 Sep;59(9):912-915. doi: 10.1136/jmedgenet-2021-108072. Epub 2021 Oct 25.
    • Case report
    • Minigene-based splicing analysis and ACMG/AMP-based tentative classification of 56 ATM variants.
    • Bueno-Martínez E, Sanoguera-Miralles L, Valenzuela-Palomo A, Esteban-Sánchez A, Lorca V, Llinares-Burguet I, Allen J, García-Álvarez A, Pérez-Segura P, Durán M, Easton DF, Devilee P, Vreeswijk MPG, de la Hoya M, Velasco-Sampedro EA.
    • J Pathol. 2022 Sep;258(1):83-101. doi: 10.1002/path.5979. Epub 2022 Jul 15.
    • A High Percentage of NSCLC With Germline CHEK2 Mutation Harbors Actionable Driver Alterations: Survey of a Cancer Genomic Database and Review of Literature.
    • Zhang SS, Lee JK, Tukachinsky H, Schrock AB, Nagasaka M, Ou SI.
    • JTO Clin Res Rep. 2022 Aug 6 [eCollection 2022 Sep];3(9):100387. doi: 10.1016/j.jtocrr.2022.100387.
    • BRCA1, BRCA2, TP53, PIK3CA, PTEN and AKT1 genes mutations in Burkina Faso breast cancer patients: prevalence, spectrum and novel variant.
    • Ouedraogo SY, Zoure AA, Zeye MMJ, Kiendrebeogo TI, Zhou X, Sawadogo AY, Simpore J, Chen H.
    • Mol Genet Genomics. 2022 Sep;297(5):1257-1268. doi: 10.1007/s00438-022-01914-1. Epub 2022 Jun 22.
    • Identification of high-risk germline variants for the development of pancreatic cancer: Common characteristics and potential guidance to screening guidelines.
    • Bennett C, Suguitan M, Abad J, Chawla A.
    • Pancreatology. 2022 Sep;22(6):719-729. doi: 10.1016/j.pan.2022.05.005. Epub 2022 May 27.
    • Review
    • CHEK2 variants: linking functional impact to cancer risk.
    • Boonen RACM, Vreeswijk MPG, van Attikum H.
    • Trends Cancer. 2022 Sep;8(9):759-770. doi: 10.1016/j.trecan.2022.04.009. Epub 2022 May 25.
    • Clinico-genomic characterization of ATM and HRD in Pancreas Cancer: Application for Practice.
    • Park W, O'Connor CA, Bandlamudi C, Forman D, Chou JF, Umeda S, Reyngold M, Varghese AM, Keane F, Balogun F, Yu KH, Kelsen DP, Crane C, Capanu M, Iacobuzio-Donahue C, O'Reilly EM.
    • Clin Cancer Res. 2022 Aug 30:CCR-22-1483. doi: 10.1158/1078-0432.CCR-22-1483. Epub ahead of print.
    • Incidence of Germline Variants in Familial Bladder Cancer and Among Patients With Cancer Predisposition Syndromes.
    • Mossanen M, Nassar AH, Stokes SM, Martinez-Chanza N, Kumar V, Nuzzo PV, Kwiatkowski DJ, Garber JE, Curran C, Freeman D, Preston M, Mouw KW, Kibel A, Choueiri TK, Sonpavde G, Rana HQ.
    • Clin Genitourin Cancer. 2022 Aug 29:S1558-7673(22)00177-X. doi: 10.1016/j.clgc.2022.08.009. Epub ahead of print.
    • Frequency of pathogenic germline variants in cancer susceptibility genes in 1336 renal cell carcinoma cases.
    • Yngvadottir B, Andreou A, Bassaganyas L, Larionov A, Cornish AJ, Chubb D, Saunders CN, Smith PS, Zhang H, Cole Y, Research Consortium GE, Larkin J, Browning L, Turajlic S, Litchfield K, Houlston RS, Maher ER.
    • Hum Mol Genet. 2022 Aug 25;31(17):3001-3011. doi: 10.1093/hmg/ddac089.
    • PLX038: a long-acting topoisomerase I inhibitor with robust anti-tumor activity in ATM deficient tumors and potent synergy with PARP inhibitors.
    • Thomas A, Fontaine SD, Diolaiti ME, Desai P, Kumar R, Takahashi N, Sciuto L, Nichols S, Ashworth A, Feng FY, Ashley GW, Nguyen M, Pommier Y, Santi DV.
    • Mol Cancer Ther. 2022 Aug 23:MCT-22-0217. doi: 10.1158/1535-7163.MCT-22-0217. Epub ahead of print.
    • Nijmegen Breakage Syndrome.
    • Varon R, Demuth I, Chrzanowska KH.
    • 1999 May 17 [updated 2022 Aug 18]. In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors.
    • Clinical, splicing and functional analysis to classify BRCA2 exon 3 variants: application of a points-based ACMG/AMP approach.
    • Thomassen M, Mesman RLS, Hansen TVO, Menendez M, Rossing M, Esteban-Sánchez A, Tudini E, Törngren T, Parsons MT, Pedersen IS, Teo SH, Kruse TA, Møller P, Borg Å, Jensen UB, Christensen LL, Singer CF, Muhr D, Santamarina M, Brandao R, Andresen BS, Feng BJ, Canson D, Richardson ME, Karam R, Pesaran T, LaDuca H, Conner BR, Abualkheir N, Hoang L, Calléja FMGR, Andrews L, James PA, Bunyan D, Hamblett A, Radice P, Goldgar DE, Walker LC, Engel C, Claes KBM, Machácková E, Baralle D, Viel A, Wappenschmidt B, Lazaro C, Vega A, Consortium E, Vreeswijk MPG, de la Hoya M, Spurdle AB.
    • Hum Mutat. 2022 Aug 18. doi: 10.1002/humu.24449. Epub ahead of print.
    • Multi-gene panel testing increases germline predisposing mutations' detection in a cohort of breast/ovarian cancer patients from Southern Italy.
    • Nunziato M, Di Maggio F, Pensabene M, Esposito MV, Starnone F, De Angelis C, Calabrese A, D'Aiuto M, Botti G, De Placido S, D'Argenio V, Salvatore F.
    • Front Med (Lausanne). 2022 Aug 11;9:894358. doi: 10.3389/fmed.2022.894358.
    • Dual BRCA1 and BRCA2 pathogenic variants in an adolescent with syndromic intellectual disability.
    • Algouneh A, Caudle M, Balci T, Andrade A, Penava D, Saleh M.
    • Clin Case Rep. 2022 Aug 8;10(8):e6202. doi: 10.1002/ccr3.6202.
    • Double heterozygous pathogenic variants prevalence in a cohort of patients with hereditary breast cancer.
    • Megid TBC, Barros-Filho MC, Pisani JP, Achatz MI.
    • Front Oncol. 2022 Aug 8;12:873395. doi: 10.3389/fonc.2022.873395.
    • Exome sequencing reveals a distinct somatic genomic landscape in breast cancer from women with germline PTEN variants.
    • Brewer T, Yehia L, Bazeley P, Eng C.
    • Am J Hum Genet. 2022 Aug 4;109(8):1520-1533. doi: 10.1016/j.ajhg.2022.07.005.

    Research news: PTEN Mutation Syndrome Leads to Breast Cancers With Distinct Molecular Alterations. (GenomeWeb)

    • Breast Cancer Risk in Women from Ghana Carrying Rare Germline Pathogenic Mutations.
    • Ahearn TU, Choudhury PP, Derkach A, Wiafe-Addai B, Awuah B, Yarney J, Edusei L, Titiloye N, Adjei E, Vanderpuye V, Aitpillah F, Dedey F, Oppong J, Osei-Bonsu EB, Duggan MA, Brinton LA, Allen J, Luccarini C, Baynes C, Carvalho S, Dunning AM, Davis Lynn BC, Chanock SJ, Hicks BD, Yeager M, Chatterjee N, Biritwum R, Clegg-Lamptey JN, Nyarko K, Wiafe S, Ansong D, Easton DF, Figueroa JD, Garcia-Closas M.
    • Cancer Epidemiol Biomarkers Prev. 2022 Aug 2;31(8):1593-1601. doi: 10.1158/1055-9965.EPI-21-1397.
    • Association between Ancestry-Specific 6q25 Variants and Breast Cancer Subtypes in Peruvian Women.
    • Zavala VA, Casavilca-Zambrano S, Navarro-Vásquez J, Castañeda CA, Valencia G, Morante Z, Calderón M, Abugattas JE, Gómez H, Fuentes HA, Liendo-Picoaga R, Cotrina JM, Monge C, Neciosup SP, Huntsman S, Hu D, Sánchez SE, Williams MA, Núñez-Marrero A, Godoy L, Hechmer A, Olshen AB, Dutil J, Ziv E, Zabaleta J, Gelaye B, Vásquez J, Gálvez-Nino M, Enriquez-Vera D, Vidaurre T, Fejerman L.
    • Cancer Epidemiol Biomarkers Prev. 2022 Aug 2;31(8):1602-1609. doi: 10.1158/1055-9965.EPI-22-0069.
    • Current and future diagnostic and treatment strategies for patients with invasive lobular breast cancer.
    • Van Baelen K, Geukens T, Maetens M, Tjan-Heijnen V, Lord CJ, Linn S, Bidard FC, Richard F, Yang WW, Steele RE, Pettitt SJ, Van Ongeval C, De Schepper M, Isnaldi E, Nevelsteen I, Smeets A, Punie K, Voorwerk L, Wildiers H, Floris G, Vincent-Salomon A, Derksen PWB, Neven P, Senkus E, Sawyer E, Kok M, Desmedt C.
    • Ann Oncol. 2022 Aug;33(8):769-785. doi: 10.1016/j.annonc.2022.05.006. Epub 2022 May 21.
    • Fibroblast testing can inform medical management in individuals with mosaic variants detected on hereditary cancer panels.
    • Sutcliffe EG, Mester JL, Susswein LR, Roberts ME, Marshall ML, Hruska KS.
    • Cancer Genet. 2022 Aug;266-267:86-89. doi: 10.1016/j.cancergen.2022.07.004. Epub 2022 Jul 28.
    • Germline CHEK2 and ATM Variants in Myeloid and Other Hematopoietic Malignancies.
    • Stubbins RJ, Korotev S, Godley LA.
    • Curr Hematol Malig Rep. 2022 Aug;17(4):94-104. doi: 10.1007/s11899-022-00663-7. Epub 2022 Jun 8.
    • Review
    • Cutaneous apocrine adenocarcinoma in a PALB2 germline pathogenic variant carrier.
    • Idoudi S, Golmard L, Harou O, Martin-Denavit T, Tantot J, Dalle S.
    • J Eur Acad Dermatol Venereol. 2022 Aug;36(8):e636-e638. doi: 10.1111/jdv.18094. Epub 2022 Mar 28.
    • Case report
    • Follicular Thyroid Cancer With Ocular Metastasis in a Patient With a Pathogenic Germline Variant in the Checkpoint Kinase 2 (CHEK2) Gene.
    • Asa SL, Wilhelm SM, Farrell R.
    • Mayo Clin Proc. 2022 Aug;97(8):1422-1423. doi: 10.1016/j.mayocp.2022.05.008.
    • Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.
    • Kar SP, Quiros PM, Gu M, Jiang T, Mitchell J, Langdon R, Iyer V, Barcena C, Vijayabaskar MS, Fabre MA, Carter P, Petrovski S, Burgess S, Vassiliou GS.
    • Nat Genet. 2022 Aug;54(8):1155-1166. doi: 10.1038/s41588-022-01121-z. Epub 2022 Jul 14.

    Research news:

    Novel Germline Loci Are Associated with Clonal Hematopoiesis Risk.

    Research news: New Clonal Hematopoiesis Genetic Risk Loci Identified in UK Biobank Study. (Precision Oncology News)

    • A Systematic Review and Meta-Analysis on the Prognostic Value of BRCA Mutations, Homologous Recombination Gene Mutations, and Homologous Recombination Deficiencies in Cancer.
    • Shao C, Chang MS, Lam FC, Marley AR, Tang H, Song Y, Miller C, Brown M, Wan I, Han J, Adeboyeje G.
    • J Oncol. 2022 Jul 20;2022:5830475. doi: 10.1155/2022/5830475.
    • TGFBR1*6A as a modifier of breast cancer risk and progression: advances and future prospects.
    • Agyemang K, Johansen AM, Barker GW, Pennison MJ, Sheffield K, Jimenez H, Blackman C, Sharma S, Fordjour PA, Singh R, Cook KL, Lin HK, Zhang W, Lo HW, Watabe K, Sun P, Langefeld CD, Pasche B.
    • NPJ Breast Cancer. 2022 Jul 19;8(1):84. doi: 10.1038/s41523-022-00446-6.
    • Functional assessment of missense variants of uncertain significance in the cancer susceptibility gene PALB2.
    • Wu S, Qi L, Chen H, Zhang K, He J, Guo X, Shen L, Zhou Y, Zhong X, Zheng S, Zhou J, Chen Y.
    • NPJ Breast Cancer. 2022 Jul 19;8(1):86. doi: 10.1038/s41523-022-00454-6.
    • Peutz-Jeghers Syndrome.
    • Wu M, Krishnamurthy K.
    • StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan–. 2022 Jul 19.
    • Pancreatic Ductal Carcinoma Risk Associated with Hereditary Cancer-Risk Genes.
    • Gardiner A, Kidd J, Elias MC, Young K, Mabey B, Taherian N, Cummings S, Malafa M, Rosenthal E, Permuth JB.
    • J Natl Cancer Inst. 2022 Jul 11;114(7):996-1002. doi: 10.1093/jnci/djac069.
    • Prevalence of FANCM germline variants in BRCA1/2 negative breast and/or ovarian cancer patients from Pakistan.
    • Rashid MU, Muhammad N, Shehzad U, Khan FA, Loya A, Hamann U.
    • Fam Cancer. 2022 Jul 8. doi: 10.1007/s10689-022-00304-1. Epub ahead of print.
    • AZD5305 More Tolerable than Earlier PARP Agents.
    • [No author given]
    • Cancer Discov. 2022 Jul 6;12(7):1602. doi: 10.1158/2159-8290.CD-NB2022-0039.
    • News
    • Functions of Breast Cancer Predisposition Genes: Implications for Clinical Management.
    • Yoshimura A, Imoto I, Iwata H.
    • Int J Mol Sci. 2022 Jul 5;23(13):7481. doi: 10.3390/ijms23137481.
    • Brief family history questionnaire to screen for Lynch syndrome in women with newly diagnosed non-serous, non-mucinous ovarian cancers.
    • Kim SR, Tone A, Kim R, Cesari M, Clarke B, Hart T, Aronson M, Holter S, Lytwyn A, Maganti M, Oldfield L, Gallinger S, Bernardini MQ, Oza AM, Djordjevic B, Lerner-Ellis J, Van de Laar E, Vicus D, Pugh TJ, Pollett A, Ferguson SE, Eiriksson L.
    • Int J Gynecol Cancer. 2022 Jul 4;32(7):891-898. doi: 10.1136/ijgc-2021-003082.
    • Identification of Spliceogenic Variants beyond Canonical GT-AG Splice Sites in Hereditary Cancer Genes.
    • Dragoš VŠ, Strojnik K, Klancar G, Škerl P, Stegel V, Blatnik A, Banjac M, Krajc M, Novakovic S.
    • Int J Mol Sci. 2022 Jul 4;23(13):7446. doi: 10.3390/ijms23137446.
    • A Genome-First Approach to Estimate Prevalence of Germline Pathogenic Variants and Risk of Pancreatic Cancer in Select Cancer Susceptibility Genes.
    • Astiazaran-Symonds E, Kim J, Haley JS, Kim SY, Rao HS, Genetics Center R, Carey DJ, Stewart DR, Goldstein AM.
    • Cancers (Basel). 2022 Jul 2;14(13):3257. doi: 10.3390/cancers14133257.
    • Germline Pathogenic Variants Impact Clinicopathology of Advanced Lung Cancer.
    • Mukherjee S, Bandlamudi C, Hellmann MD, Kemel Y, Drill E, Rizvi H, Tkachuk K, Khurram A, Walsh MF, Zauderer MG, Mandelker D, Topka S, Zehir A, Srinivasan P, Esai Selvan M, Carlo MI, Cadoo KA, Latham A, Hamilton JG, Liu YL, Lipkin SM, Belhadj S, Bond GL, Gümüs ZH, Klein RJ, Ladanyi M, Solit DB, Robson ME, Jones DR, Kris MG, Vijai J, Stadler ZK, Amos CI, Taylor BS, Berger MF, Rudin CM, Offit K.
    • Cancer Epidemiol Biomarkers Prev. 2022 Jul 1;31(7):1450-1459. doi: 10.1158/1055-9965.EPI-21-1287.
    • Single-nucleotide polymorphisms and the effectiveness of taxane-based chemotherapy in premenopausal breast cancer: a population-based cohort study in Denmark.
    • Hjorth CF, Damkier P, Stage TB, Feddersen S, Hamilton-Dutoit S, Rørth M, Ejlertsen B, Lash TL, Ahern TP, Sørensen HT, Cronin-Fenton D.
    • Breast Cancer Res Treat. 2022 Jul;194(2):353-363. doi: 10.1007/s10549-022-06596-2. Epub 2022 Apr 30.
    • PALB2 germline mutations in a multi-gene panel testing cohort of 1905 breast-ovarian cancer patients in Argentina.
    • Gonzalez A, Del Greco F, Vargas-Roig L, Brun B, Tabares G, Mampel A, Montes C, Martin C, Lopez M, Rossi N, Bruno L, Ponce C, Quaglio P, Yanzi A, Acevedo S, Lugo L, Lopez Breccia P, Avila S, Sisterna S, Del Castillo MS, Vazquez M, Nuñez LM.
    • Breast Cancer Res Treat. 2022 Jul;194(2):403-412. doi: 10.1007/s10549-022-06620-5. Epub 2022 May 24.
    • The impact of oophorectomy on survival from breast cancer in patients with CHEK2 mutations.
    • Tomiczek-Szwiec J, Szwiec M, Falco M, Cybulski C, Wokolorczyk D, Jakubowska A, Gronwald J, Stawicka M, Godlewski D, Kilar E, Marczyk E, Siolek M, Wisniowski R, Haus O, Sibilski R, Bodnar L, Sun P, Narod SA, Lubinski J, Huzarski T; Polish Breast Cancer Consortium.
    • Br J Cancer. 2022 Jul;127(1):84-91. doi: 10.1038/s41416-022-01770-1. Epub 2022 Mar 7.
    • Clinicopathological Characterization of Double Heterozygosity for BRCA1 and BRCA2 Variants in Korean Breast Cancer Patients.
    • Bang YJ, Kwon WK, Nam SJ, Kim SW, Chae BJ, Lee SK, Ryu JM, Kim JW, Yu J, Lee JE.
    • Cancer Res Treat. 2022 Jul;54(3):827-833. doi: 10.4143/crt.2021.791. Epub 2021 Oct 13.
    • Evaluating Mismatch Repair Status to Screen Clinical Advanced Breast Carcinomas for Immunotherapy: Experience From a Large Academic Institution.
    • Arole V, Shafi S, Challa B, Parwani AV, Tozbikian G, Li Z.
    • Clin Breast Cancer. 2022 Jul;22(5):e680-e684. doi: 10.1016/j.clbc.2022.01.010. Epub 2022 Jan 22.
    • A recurrent pathogenic BRCA2 exon 5-11 duplication in the Christian Arab population in Israel.
    • Reznick Levi G, Larom G, Ofen Glassner V, Ekhilevitch N, Sharon Swartzman N, Paperna T, Baris-Feldman H, Weiss K.
    • Fam Cancer. 2022 Jul;21(3):289-294. doi: 10.1007/s10689-021-00262-0. Epub 2021 May 17.
    • Re-evaluating cancer risks associated with the CHEK2 p.Ser428Phe Ashkenazi Jewish founder pathogenic variant.
    • Laitman Y, Nielsen SM, Hatchell KE, Truty R, Bernstein-Molho R, Esplin ED, Friedman E.
    • Fam Cancer. 2022 Jul;21(3):305-308. doi: 10.1007/s10689-021-00278-6. Epub 2021 Oct 8.
    • Estimating the proportion of pathogenic variants from breast cancer case-control data: application to calibration of ACMG/AMP variant classification criteria.
    • James PA, Fortuno C, Li N, Lim BWX, Campbell IG, Spurdle AB.
    • Hum Mutat. 2022 Jul;43(7):882-888. doi: 10.1002/humu.24357. Epub 2022 Mar 3.
    • Comprehensive epithelial tubo-ovarian cancer risk prediction model incorporating genetic and epidemiological risk factors.
    • Lee A, Yang X, Tyrer J, Gentry-Maharaj A, Ryan A, Mavaddat N, Cunningham AP, Carver T, Archer S, Leslie G, Kalsi J, Gaba F, Manchanda R, Gayther S, Ramus SJ, Walter FM, Tischkowitz M, Jacobs I, Menon U, Easton DF, Pharoah P, Antoniou AC.
    • J Med Genet. 2022 Jul;59(7):632-643. doi: 10.1136/jmedgenet-2021-107904. Epub 2021 Nov 29.
    • The clinical features and management of Lynch syndrome-associated ovarian cancer.
    • Ran X, Jing H, Li Z.
    • J Obstet Gynaecol Res. 2022 Jul;48(7):1538-1545. doi: 10.1111/jog.15273. Epub 2022 Apr 27.
    • Review
    • Germline mutations in Chinese ovarian cancer with or without breast cancer.
    • Kwong A, Ho CYS, Shin VY, Au CH, Luk WP, Fung LH, Chan TL, Chan KKL, Ngan HYS, Ma ESK.
    • Mol Genet Genomic Med. 2022 Jul;10(7):e1940. doi: 10.1002/mgg3.1940. Epub 2022 May 24.
    • EARS2 significantly coexpresses with PALB2 in breast and pancreatic cancer.
    • Lehrer S, Rheinstein PH.
    • Cancer Treat Res Commun. 2022 [2022 Jun 28];32:100595. doi: 10.1016/j.ctarc.2022.100595. Epub 2022 Jun 28.
    • Current status of inherited pancreatic cancer.
    • Olakowski M, Buldak L.
    • Hered Cancer Clin Pract. 2022 Jun 27;20(1):26. doi: 10.1186/s13053-022-00224-2.
    • Multigene Panel Testing in Turkish Hereditary Cancer Syndrome Patients.
    • Arslan Ates E, Turkyilmaz A, Alavanda C, Yildirim O, Guney AI.
    • Medeni Med J. 2022 Jun 23;37(2):150-158. doi: 10.4274/MMJ.galenos.2022.22556.
    • Genomic Breakpoints’ Characterization of a Large CHEK2 Duplication in an Italian Family with Hereditary Breast Cancer.
    • Germani A, Guadagnolo D, Salvati V, Micolonghi C, Mancini R, Mastromoro G, Sadeghi S, Petrucci S, Pizzuti A, Piane M.
    • Diagnostics (Basel). 2022 Jun 22;12(7):1520. doi: 10.3390/diagnostics12071520.
    • Environmental Contaminants Modulate Breast Cancer Development and Outcome in TP53 p.R337H Carriers and Noncarriers.
    • Gerber VKQ, Paraizo MM, Ibañez HC, Casali-da-Rocha JC, Pinto EM, Andrade DP, Ibañez MVC, Komechen H, Figueiredo MMO, Custódio G, Fiori CMCM, Balbinotti JHG, Nardin JM, Almeida TA, Beltrame OO, Yamada PA, de Fraga GS, de Brito LL, Martins J, Melanda VS, Licht OAB, Teixeira VZ, Pinho SKS, Bottini S, Lalli E, Zambetti GP, Figueiredo BC.
    • Cancers (Basel). 2022 Jun 19;14(12):3014. doi: 10.3390/cancers14123014.
    • Moderate penetrance genes complicate genetic testing for breast cancer diagnosis: ATM, CHEK2, BARD1 and RAD51D.
    • Graffeo R, Rana HQ, Conforti F, Bonanni B, Cardoso MJ, Paluch-Shimon S, Pagani O, Goldhirsch A, Partridge AH, Lambertini M, Garber JE.
    • Breast. 2022 Jun 18;65:32-40. doi: 10.1016/j.breast.2022.06.003. Epub ahead of print.
    • A Pan-Canadian Consensus Statement on First-Line PARP Inhibitor Maintenance for Advanced, High-Grade Serous and Endometrioid Tubal, Ovarian, and Primary Peritoneal Cancers.
    • Tinker AV, Altman AD, Bernardini MQ, Ghatage P, Gien LT, Provencher D, Salvador S, Doucette S, Oza AM.
    • Curr Oncol. 2022 Jun 17;29(6):4354-4369. doi: 10.3390/curroncol29060348.
    • The mutation landscape of multiple cancer predisposition genes in Chinese familial/hereditary breast cancer families.
    • Dong L, Zhang H, Zhang H, Ye Y, Cheng Y, Li L, Wei L, Han L, Cao Y, Li S, Hao X, Liu J, Yu J.
    • Cancer Biol Med. 2021 Sep 28 [2022 Jun 15];19(6):850–70. doi: 10.20892/j.issn.2095-3941.2021.0011. Epub ahead of print.
    • The Homologous Recombination Deficiency Scar in Advanced Cancer: Agnostic Targeting of Damaged DNA Repair.
    • Pacheco-Barcia V, Muñoz A, Castro E, Ballesteros AI, Marquina G, González-Díaz I, Colomer R, Romero-Laorden N.
    • Cancers (Basel). 2022 Jun 15;14(12):2950. doi: 10.3390/cancers14122950.
    • Minigene Splicing Assays Identify 20 Spliceogenic Variants of the Breast/Ovarian Cancer Susceptibility Gene RAD51C.
    • Sanoguera-Miralles L, Bueno-Martínez E, Valenzuela-Palomo A, Esteban-Sánchez A, Llinares-Burguet I, Pérez-Segura P, García-Álvarez A, de la Hoya M, Velasco-Sampedro EA.
    • Cancers (Basel). 2022 Jun 15;14(12):2960. doi: 10.3390/cancers14122960.
    • Common Multiple Primary Cancers Associated With Breast and Gynecologic Cancers and Their Risk Factors, Pathogenesis, Treatment and Prognosis: A Review.
    • Ge S, Wang B, Wang Z, He J, Ma X.
    • Front Oncol. 2022 Jun 8;12:840431. doi: 10.3389/fonc.2022.840431.
    • Update Breast Cancer 2022 Part 1 - Early Stage Breast Cancer.
    • Welslau M, Müller V, Lüftner D, Schütz F, Stickeler E, Fasching PA, Janni W, Thomssen C, Witzel I, Fehm TN, Belleville E, Bader S, Seitz K, Untch M, Thill M, Tesch H, Ditsch N, Lux MP, Aktas B, Banys-Paluchowski M, Schneeweiss A, Harbeck N, Würstlein R, Hartkopf AD, Wöckel A, Seliger B, Massa C, Kolberg HC.
    • Geburtshilfe Frauenheilkd. 2022 Jun 3;82(6):580-589. doi: 10.1055/a-1811-6106.
    • Comprehensive evaluation and efficient classification of BRCA1 RING domain missense substitutions.
    • Clark KA, Paquette A, Tao K, Bell R, Boyle JL, Rosenthal J, Snow AK, Stark AW, Thompson BA, Unger J, Gertz J, Varley KE, Boucher KM, Goldgar DE, Foulkes WD, Thomas A, Tavtigian SV.
    • Am J Hum Genet. 2022 Jun 2;109(6):1153-1174. doi: 10.1016/j.ajhg.2022.05.004.
    • Are Mutation Carrier Patients Different from Non-Carrier Patients? Genetic, Pathology, and US Features of Patients with Breast Cancer.
    • Pintican RM, Chiorean A, Duma M, Feier D, Szep M, Eniu D, Goidescu I, Dudea S.
    • Cancers (Basel). 2022 Jun 2;14(11):2759. doi: 10.3390/cancers14112759.
    • Genetic Aspects of Mammographic Density Measures Associated with Breast Cancer Risk.
    • Li S, Nguyen TL, Nguyen-Dumont T, Dowty JG, Dite GS, Ye Z, Trinh HN, Evans CF, Tan M, Sung J, Jenkins MA, Giles GG, Hopper JL, Southey MC.
    • Cancers (Basel). 2022 Jun 2;14(11):2767. doi: 10.3390/cancers14112767.
    • BARD1 mystery: tumor suppressors are cancer susceptibility genes.
    • Hawsawi YM, Shams A, Theyab A, Abdali WA, Hussien NA, Alatwi HE, Alzahrani OR, Oyouni AAA, Babalghith AO, Alreshidi M.
    • BMC Cancer. 2022 Jun 1;22(1):599. doi: 10.1186/s12885-022-09567-4.
    • The yield and effectiveness of breast cancer surveillance in women with PTEN Hamartoma Tumor Syndrome.
    • Hoxhaj A, Drissen MMCM, Vos JR, Bult P, Mann RM, Hoogerbrugge N.
    • Cancer. 2022 Jun 1. doi: 10.1002/cncr.34326. Epub ahead of print
    • Association of Pathogenic Variants in Hereditary Cancer Genes With Multiple Diseases.
    • Zeng C, Bastarache LA, Tao R, Venner E, Hebbring S, Andujar JD, Bland ST, Crosslin DR, Pratap S, Cooley A, Pacheco JA, Christensen KD, Perez E, Zawatsky CLB, Witkowski L, Zouk H, Weng C, Leppig KA, Sleiman PMA, Hakonarson H, Williams MS, Luo Y, Jarvik GP, Green RC, Chung WK, Gharavi AG, Lennon NJ, Rehm HL, Gibbs RA, Peterson JF, Roden DM, Wiesner GL, Denny JC.
    • JAMA Oncol. 2022 Jun 1;8(6):835-844. doi: 10.1001/jamaoncol.2022.0373.

    Commentary:

    A Phenome-Wide Association Study and the Discovery of a New Clinical Spectrum of Hereditary Cancer Genes.

    Comment, Letter:

    Hereditary Cancer Syndromes—A Broader Clinical Spectrum Than Previously Understood?

    Reply, Letter:

    Hereditary Cancer Syndromes-A Broader Clinical Spectrum Than Previously Understood?-Reply.

    Research news: Phenome-Wide Association Study Links Hereditary Cancer Genes to Additional Phenotypes. (GenomeWeb)

    • Ovarian tumors and genetic predisposition.
    • Štellmachová J, Vrtel P, Vrtel R, Janíková M, Kolaríková K, Procházka M, Vodicka R.
    • Ceska Gynekol. 2022 Summer;87(3):211-216. English. doi: 10.48095/cccg2022211.
    • Cancer genetics and breast cancer.
    • Huber-Keener KJ.
    • Best Pract Res Clin Obstet Gynaecol. 2022 Jun;82:3-11. doi: 10.1016/j.bpobgyn.2022.01.007. Epub 2022 Jan 31.
    • Review
    • Functional analysis of ATM variants in a high risk cohort provides insight into missing heritability.
    • Baughan SL, Darwiche F, Tainsky MA.
    • Cancer Genet. 2022 Jun;264-265:40-49. doi: 10.1016/j.cancergen.2022.03.003. Epub 2022 Mar 20.
    • Olaparib Use in Patients With Metastatic Breast Cancer Harboring Somatic BRCA1/2 Mutations or Mutations in Non-BRCA1/2, DNA Damage Repair Genes.
    • Walsh EM, Mangini N, Fetting J, Armstrong D, Chan IS, Connolly RM, Fiallos K, Lehman J, Nunes R, Petry D, Reynolds J, Shah M, Smith KL, Visvanathan K, Lauring J, Park BH, Stearns V, Wolff AC.
    • Clin Breast Cancer. 2022 Jun;22(4):319-325. doi: 10.1016/j.clbc.2021.12.007. Epub 2021 Dec 30.
    • Should We Test Cancer Susceptibility Genes in Routinely Used Multigene Panels? A Case of Synchronous Lung Adenocarcinoma and Breast Cancer Associated With Germline CHEK2 Mutation.
    • Federico AD, Gelsomino F, De Biase D, Ardizzoni A.
    • Clin Lung Cancer. 2022 Jun;23(4):e283-e284. doi: 10.1016/j.cllc.2021.09.011. Epub 2021 Oct 10.
    • Letter, Case report

    Case report:

    The Common Thread: A Case of Synchronous Lung Cancers and a Germline CHEK2 Mutation.

    • Prophylactic Salpingo-Opphorectomy in Patients With Hereditary Predisposition Genes for Ovarian Cancer.
    • Garrett AA, Mahdi H.
    • JCO Oncol Pract. 2022 Jun;18(6):e846-e848. doi: 10.1200/OP.22.00069. Epub 2022 Mar 8.

    Original research:

    Risk-Reducing Bilateral Salpingo-Oophorectomy for Ovarian Cancer: A Review and Clinical Guide for Hereditary Predisposition Genes.

    • Concurrent Germline BRCA1/2 and Mismatch Repair Mutations in Young-Onset Pancreatic and Colorectal Cancer: The Importance of Comprehensive Germline and Somatic Characterization to Inform Therapeutic Options.
    • Ozer M, Ranganathan M, Lecomte N, Schvartzman JM, Walch HS, Chatila WK, Hong J, Carlo MI, Walsh MF, Sheehan M, Mandelker D, Ceyhan-Birsoy O, Maio A, Kemel Y, Iacobuzio-Donahue CA, O'Reilly EM, Yu KH.
    • JCO Precis Oncol. 2022 Jun;6:e2100560. doi: 10.1200/PO.21.00560.
    • Case report
    • Increased incidence of pathogenic variants in ATM in the context of testing for breast and ovarian cancer predisposition.
    • Macquere P, Orazio S, Bonnet F, Jones N, Bubien V, Chiron J, Lafon D, Barouk-Simonet E, Tinat J, Venat-Bouvet L, Gesta P, Longy M, Sevenet N.
    • J Hum Genet. 2022 Jun;67(6):339-345. doi: 10.1038/s10038-022-01014-3. Epub 2022 Jan 12.
    • Delayed Craniospinal Metastasis of Aggressive Nonfunctioning Pituitary Adenomas as Pituitary Carcinomas.
    • Raghu ALB, Everson MC, Helal A, Kiyofuji S, Clarke MJ, Link MJ.
    • J Neurol Surg B Skull Base. 2021 Mar 1 [eCollection 2022 Jun];83(Suppl 2):e253-e259. doi: 10.1055/s-0041-1725024.
    • Heritable genomic diversity in breast cancer driver genes and associations with risk in a Chilean population.
    • Morales-Pison S, Gonzalez-Hormazabal P, Tapia JC, Salas-Burgos A, Ampuero S, Gómez F, Waugh E, Reyes JM, Jara L.
    • Biol Res. 2022 May 31;55(1):20. doi: 10.1186/s40659-022-00384-4.
    • Complete response to pembrolizumab in a patient with dermatomyositis and MMR deficient ovarian cancer: A case report.
    • Valls ML, Kase AM, Patel R, Wang B, Aggarwal R, Colon-Otero G.
    • Gynecol Oncol Rep. 2022 May 25;41:101010. doi: 10.1016/j.gore.2022.101010.
    • Case Report: Male Lobular Breast Cancer in Hereditary Cancer Syndromes.
    • Carnevali I, Tedaldi G, Pensotti V, Sahnane N, Micello D, Rovera F, Sessa F, Tibiletti MG.
    • Front Oncol. 2022 May 24;12:891426. doi: 10.3389/fonc.2022.891426.
    • Truncating TINF2 p.Tyr312Ter variant and inherited breast cancer susceptibility.
    • Koivuluoma S, Vorimo S, Mattila TM, Tervasmäki A, Kumpula T, Kuismin O, Winqvist R, Moilanen J, Mantere T, Pylkäs K.
    • Fam Cancer. 2022 May 20. doi: 10.1007/s10689-022-00295-z. Epub ahead of print.
    • Prevalence of Germline Findings Among Tumors From Cancer Types Lacking Hereditary Testing Guidelines.
    • Yap TA, Ashok A, Stoll J, Mauer E, Nepomuceno VM, Blackwell KL, Garber JE, Meric-Bernstam F.
    • JAMA Netw Open. [2022 May 20];5(5):e2213070. doi: 10.1001/jamanetworkopen.2022.13070.

    Commentary:

    Paired Tumor-Germline Testing as a Driver in Better Cancer Care.

    • Apparent regional differences in the spectrum of BARD1 pathogenic variants in Spanish population and importance of copy number variants.
    • Benito-Sánchez B, Barroso A, Fernández V, Mercadillo F, Núñez-Torres R, Pita G, Pombo L, Morales-Chamorro R, Cano-Cano JM, Urioste M, González-Neira A, Osorio A.
    • Sci Rep. 2022 May 20;12(1):8547. doi: 10.1038/s41598-022-12480-2.
    • Whole-Genome Sequencing Identifies PPARGC1A as a Putative Modifier of Cancer Risk in BRCA1/2 Mutation Carriers.
    • Zhu Q, Wang J, Yu H, Hu Q, Bateman NW, Long M, Rosario S, Schultz E, Dalgard CL, Wilkerson MD, Sukumar G, Huang RY, Kaur J, Lele SB, Zsiros E, Villella J, Lugade A, Moysich K, Conrads TP, Maxwell GL, Odunsi K.
    • Cancers (Basel). 2022 May 10;14(10):2350. doi: 10.3390/cancers14102350.
    • Understanding the Experience of Canadian Women Living with Ovarian Cancer through the Every Woman Study™.
    • Tone A, Boghosian T, Ross A, Baugh E, Altman AD, Dawson L, Reid F, Crawford C.
    • Curr Oncol. 2022 May 5;29(5):3318-3340. doi: 10.3390/curroncol29050271.
    • Screening and risk reducing surgery for endometrial or ovarian cancers in Lynch syndrome: a systematic review.
    • Lim N, Hickey M, Young GP, Macrae FA, Kelly C.
    • Int J Gynecol Cancer. 2022 May 3;32(5):646-655. doi: 10.1136/ijgc-2021-003132.
    • CDH1 germline mutations in families with hereditary lobular breast cancer.
    • Girardi A, Magnoni F, Vicini E, Kouloura A, La Vecchia C, Veronesi P, Corso G.
    • Eur J Cancer Prev. 2022 May 1;31(3):274-278. doi: 10.1097/CEJ.0000000000000688.
    • Review
    • A Review of MutSa and its Absence in Mismatch Repair Related Ovarian Carcinomas.
    • Hayes A, Jaman A, Johnson E, Rausch M.
    • FASEB J. 2022 May;36 Suppl 1. doi: 10.1096/fasebj.2022.36.S1.R4038.
    • Conference abstract. Review
    • The Genetic and Molecular Analyses of RAD51C and RAD51D Identifies Rare Variants Implicated in Hereditary Ovarian Cancer from a Genetically Unique Population.
    • Alenezi WM, Milano L, Fierheller CT, Serruya C, Revil T, Oros KK, Behl S, Arcand SL, Nayar P, Spiegelman D, Gravel S, Mes-Masson AM, Provencher D, Foulkes WD, El Haffaf Z, Rouleau G, Bouchard L, Greenwood CMT, Masson JY, Ragoussis J, Tonin PN.
    • Cancers (Basel). 2022 Apr 30;14(9):2251. doi: 10.3390/cancers14092251.
    • TP53 Pathogenic Variants in Early-Onset Breast Cancer Patients Fulfilling Hereditary Breast and Ovary Cancer and Li-Fraumeni-like Syndromes.
    • da Silva PFF, Goveia RM, Teixeira TB, Gamba BF, de Lima AP, Rogatto SR, Silveira-Lacerda EP.
    • Biomolecules. 2022 Apr 27;12(5):640. doi: 10.3390/biom12050640.
    • Genetic variation of PD-1 L1 gene affects its expression and is related to clinical outcome in epithelial ovarian cancer.
    • Sun H, Li Y, Si W, Hua T, Chen J, Kang S.
    • Front Oncol. 2022 Apr 26;12:763134. doi: 10.3389/fonc.2022.763134.
    • Clinical relevance of pathogenic germline variants in mismatch repair genes in Chinese breast cancer patients.
    • Hu L, Sun J, Li Z, Qu Z, Liu Y, Wan Q, Liu J, Ding X, Zang F, Zhang J, Yao L, Xu Y, Wang Y, Xie Y.
    • NPJ Breast Cancer. 2022 Apr 21;8(1):52. doi: 10.1038/s41523-022-00417-x.
    • Common Variant in ALDH2 Modifies the Risk of Breast Cancer Among Carriers of the p.K3326* Variant in BRCA2.
    • Kluzniak W, Szymiczek A, Rodrigue A, Wokolorczyk D, Rusak B, Stempa K, Huzarski T, Gronwald J, Lubinski J, Zamani N, Zhang S, Masson JY, Narod SA; Polish Hereditary Breast Cancer Consortium, Cybulski C, Akbari MR.
    • JCO Precis Oncol. 2022 Apr [20];6:e2100450. doi: 10.1200/PO.21.00450.
    • Case Review: Whole-Exome Sequencing Analyses Identify Carriers of a Known Likely Pathogenic Intronic BRCA1 Variant in Ovarian Cancer Cases Clinically Negative for Pathogenic BRCA1 and BRCA2 Variants.
    • Alenezi WM, Fierheller CT, Revil T, Serruya C, Mes-Masson AM, Foulkes WD, Provencher D, El Haffaf Z, Ragoussis J, Tonin PN.
    • Genes (Basel). 2022 Apr 15;13(4):697. doi: 10.3390/genes13040697.
    • Overall survival analysis of > 65-year-old patients with breast cancer based on their molecular, clinicopathological and laboratory factors.
    • Huszno J, Kolosza Z, Mrochem-Kwarciak J, Grzybowska E.
    • Arch Med Sci. 2022 Apr 14;18(3):800-804. doi: 10.5114/aoms/147736.
    • Rare coding variants in DNA damage repair genes associated with timing of natural menopause.
    • Ward LD, Parker MM, Deaton AM, Tu HC, Flynn-Carroll AO, Hinkle G, Nioi P.
    • HGG Adv. 2021 Dec 22 [eCollection 2022 Apr 14];3(2):100079. doi: 10.1016/j.xhgg.2021.100079.
    • Contribution of large genomic rearrangements in PALB2 to familial breast cancer: implications for genetic testing.
    • Li N, Zethoven M, McInerny S, Healey E, DeSilva D, Devereux L, Scott RJ, James PA, Campbell IG.
    • J Med Genet. 2022 Apr 8:jmedgenet-2021-108399. doi: 10.1136/jmedgenet-2021-108399. Epub ahead of print.
    • Identification and Somatic Characterization of the Germline PTEN Promoter Variant rs34149102 in a Family with Gastrointestinal and Breast Tumors.
    • Disciglio V, Sanese P, Fasano C, Lotesoriere C, Valentini AM, Forte G, Lepore Signorile M, De Marco K, Grossi V, Lolli I, Cariola F, Simone C.
    • Genes (Basel). 2022 Apr 5;13(4):644. doi: 10.3390/genes13040644.
    • Cancer in children with biallelic BRCA1 variants and Fanconi anemia-like features: Report of a malignant brain tumor in a young child.
    • Borlin PR, Brazzola P, Frontzek K, Zanoni P, Morscher RJ, Hench J, Frank S, Kottke R, Rushing EJ, Goeggel Simonetti B, Steindl K, Guerreiro Stucklin AS.
    • Pediatr Blood Cancer. 2022 Apr 4:e29680. doi: 10.1002/pbc.29680. Epub ahead of print.
    • Case report
    • Core Homologous Recombination Mutations and Improved Survival in Nonpancreatic GI Cancers.
    • Tan E, Whiting J, Knepper T, Xie H, Imanirad I, Carballido E, Felder S, Frakes J, Mo Q, Permuth JB, Somerer K, Kim R, Anaya DA, Fleming JB, Walko C, Sahin IH.
    • Am J Clin Oncol. 2022 Apr 1;45(4):137-141. doi: 10.1097/COC.0000000000000901.
    • Population-based estimates of age-specific cumulative risk of breast cancer for pathogenic variants in ATM.
    • Renault AL, Dowty JG, Steen JA, Li S, Winship IM, Giles GG, Hopper JL, Southey MC, Nguyen-Dumont T.
    • Breast Cancer Res. 2022 Apr 1;24(1):24. doi: 10.1186/s13058-022-01518-y.
    • Cancer Causative Mutations Occurring in Early Embryogenesis.
    • Pareja F, Ptashkin RN, Brown DN, Derakhshan F, Selenica P, da Silva EM, Gazzo AM, Da Cruz Paula A, Breen K, Shen R, Marra A, Zehir A, Benayed R, Berger MF, Ceyhan-Birsoy O, Jairam S, Sheehan M, Patel U, Kemel Y, Casanova-Murphy J, Schwartz CJ, Vahdatinia M, Comen E, Borsu L, Pei X, Riaz N, Abramson DH, Weigelt B, Walsh MF, Hadjantonakis AK, Ladanyi M, Offit K, Stadler ZK, Robson ME, Reis-Filho JS, Mandelker D.
    • Cancer Discov. 2022 Apr 1;12(4):949-957. doi: 10.1158/2159-8290.CD-21-1110.

    Commentary:

    Patchwork Cancer Predisposition.

    • Breast Cancer Screening Strategies for Women With ATM, CHEK2, and PALB2 Pathogenic Variants: A Comparative Modeling Analysis.
    • Lowry KP, Geuzinge HA, Stout NK, Alagoz O, Hampton J, Kerlikowske K, de Koning HJ, Miglioretti DL, van Ravesteyn NT, Schechter C, Sprague BL, Tosteson ANA, Trentham-Dietz A, Weaver D, Yaffe MJ, Yeh JM, Couch FJ, Hu C, Kraft P, Polley EC, Mandelblatt JS, Kurian AW, Robson ME; Breast Working Group of the Cancer Intervention and Surveillance Modeling Network (CISNET), in collaboration with the Breast Cancer Surveillance Consortium (BCSC), and the Cancer Risk Estimates Related to Susceptibility (CARRIERS) Consortium.
    • JAMA Oncol. 2022 Apr 1;8(4):587-596. doi: 10.1001/jamaoncol.2021.6204.

    Research news: Breast Cancer Screening with MRI Recommended for Women with Pathogenic Variants. (Inside Precision Medicine)

    Research news: MRI Could Reduce Breast Cancer Deaths in Women at High Risk. (Medscape)

    • Consensus Recommendations of the German Consortium for Hereditary Breast and Ovarian Cancer.
    • Rhiem K, Auber B, Briest S, Dikow N, Ditsch N, Dragicevic N, Grill S, Hahnen E, Horvath J, Jaeger B, Kast K, Kiechle M, Leinert E, Morlot S, Püsken M, Schäfer D, Schott S, Schroeder C, Siebers-Renelt U, Solbach C, Weber-Lassalle N, Witzel I, Zeder-Göß C, Schmutzler RK.
    • Breast Care (Basel). 2022 Apr;17(2):199-207. doi: 10.1159/000516376. Epub 2021 Jul 19.
    • Somatic loss of the remaining allele occurs approximately in half of CHEK2-driven breast cancers and is accompanied by a border-line increase of chromosomal instability.
    • Iyevleva AG, Aleksakhina SN, Sokolenko AP, Baskina SV, Venina AR, Anisimova EI, Bizin IV, Ivantsov AO, Belysheva YV, Chernyakova AP, Togo AV, Imyanitov EN.
    • Breast Cancer Res Treat. 2022 Apr;192(2):283-291. doi: 10.1007/s10549-022-06517-3. Epub 2022 Jan 12.
    • A founder CHEK2 pathogenic variant in association with kidney cancer.
    • Brooks K, Holman M, Steding C, Tucker M.
    • Cancer Genet. 2022 Apr;262-263:40-42. doi: 10.1016/j.cancergen.2021.12.007. Epub 2021 Dec 23.
    • Case report
    • Germline pathogenic variants in cancer risk genes among patients with thyroid cancer and suspected predisposition.
    • Kamihara J, Zhou J, LaDuca H, Wassner AJ, Dalton E, Garber JE, Black MH.
    • Cancer Med. 2022 Apr;11(8):1745-1752. doi: 10.1002/cam4.4549. Epub 2022 Feb 17.
    • Association between germline pathogenic variants and breast cancer risk in Japanese women: the HERPACC study.
    • Kasugai Y, Kohmoto T, Taniyama Y, Koyanagi YN, Usui Y, Iwase M, Oze I, Yamaguchi R, Ito H, Imoto I, Matsuo K.
    • Cancer Sci. 2022 Apr;113(4):1451-1462. doi: 10.1111/cas.15312. Epub 2022 Mar 7.
    • Questioning the validity of clinically available breast cancer polygenic risk scores: comparison of two labs reveals discrepancies.
    • Wynn J, Levinson E, Koval C, Ernst ME, Chung WK.
    • Fam Cancer. 2022 Apr;21(2):125-127. doi: 10.1007/s10689-021-00260-2. Epub 2021 May 18.
    • Letter, Commentary
    • First international workshop of the ATM and cancer risk group (4-5 December 2019).
    • Lesueur F, Easton DF, Renault AL, Tavtigian SV, Bernstein JL, Kote-Jarai Z, Eeles RA, Plaseska-Karanfia D, Feliubadaló L; Spanish ATM working group, Arun B, Herold N, Versmold B, Schmutzler RK; GC-HBOC, Nguyen-Dumont T, Southey MC, Dorling L, Dunning AM, Ghiorzo P, Dalmasso BS, Cavaciuti E, Le Gal D, Roberts NJ, Dominguez-Valentin M, Rookus M, Taylor AMR, Goldstein AM, Goldgar DE; CARRIERS and Ambry Groups, Stoppa-Lyonnet D, Andrieu N.
    • Fam Cancer. 2022 Apr;21(2):211-227. doi: 10.1007/s10689-021-00248-y. Epub 2021 Jun 14.
    • Conference report
    • CDH1 pathogenic variants and cancer risk in an unselected patient population.
    • Bar-Mashiah A, Soper ER, Cullina S, Belbin GM, Kenny EE, Lucas AL, Abul-Husn NS.
    • Fam Cancer. 2022 Apr;21(2):235-239. doi: 10.1007/s10689-021-00257-x. Epub 2021 Apr 22.
    • Incidence and prognostic significance of inguinal lymph node metastasis in women with newly diagnosed epithelial ovarian cancer.
    • Chalif J, Yao M, Gruner M, Kuznicki M, Vargas R, Rose PG, Michener C, DeBernardo R, Chambers L.
    • Gynecol Oncol. 2022 Apr;165(1):90-96. doi: 10.1016/j.ygyno.2022.01.026. Epub 2022 Mar 7.
    • Cancer risk and genotype-phenotype correlation in Japanese patients with Cowden syndrome.
    • Teramae S, Muguruma N, Okamoto K, Oseto K, Nishikawa R, Tanoue T, Hirata K, Yanai S, Matsumoto T, Shimizu S, Miwa J, Sasaki Y, Yashima K, Ohnuma H, Sato Y, Kitayama Y, Ohda Y, Yamauchi A, Sanomura Y, Tanaka K, Kubo Y, Ishikawa H, Bando Y, Sonoda T, Takayama T.
    • Int J Clin Oncol. 2022 Apr;27(4):639-647. doi: 10.1007/s10147-022-02116-w. Epub 2022 Feb 2.
    • Hereditary Diffuse Gastric Cancer-Update Based on the Current Consort Recommendations.
    • Treese C, Siegmund B, Daum S.
    • Curr Oncol. 2022 Mar 30;29(4):2454-2460. doi: 10.3390/curroncol29040199.
    • Health influenced by genetics: A first comprehensive analysis of breast cancer high and moderate penetrance susceptibility genes in the Tunisian population.
    • Boujemaa M, Mighri N, Chouchane L, Boubaker MS, Abdelhak S, Boussen H, Hamdi Y.
    • PLoS One. 2022 Mar 25;17(3):e0265638. doi: 10.1371/journal.pone.0265638.
    • You Don’t Have a BRCA Mutation, But Could You Have Lynch Syndrome?
    • [No author given]
    • My Gene Counsel. Genetic Journal. 2022 Mar 22.

    Original research:

    Errors in delivery of cancer genetics services: implications for practice.

    • Association of recurrent mutations in BRCA1, BRCA2, RAD51C, PALB2, and CHEK2 with the risk of borderline ovarian tumor.
    • Ogrodniczak A, Menkiszak J, Gronwald J, Tomiczek-Szwiec J, Szwiec M, Cybulski C, Debniak T, Huzarski T, Toloczko-Grabarek A, Byrski T, Bialkowska K, Prajzendanc K, Baszuk P, Lubinski J, Jakubowska A.
    • Hered Cancer Clin Pract. 2022 Mar 21;20(1):11. doi: 10.1186/s13053-022-00218-0.
    • Intestinal and extraintestinal neoplasms in patients with NTHL1 tumor syndrome: a systematic review.
    • Beck SH, Jelsig AM, Yassin HM, Lindberg LJ, Wadt KAW, Karstensen JG.
    • Fam Cancer. 2022 Mar 16. doi: 10.1007/s10689-022-00291-3. Epub ahead of print.
    • Review
    • Breast Cancer Phenotype Associated With Li-Fraumeni Syndrome: A Brazilian Cohort Enriched by TP53 p.R337H Carriers.
    • Sandoval RL, Polidorio N, Leite ACR, Cartaxo M, Pisani JP, Quirino CV, Cezana L, Pereira NG, Pereira AAL, Rossi BM, Achatz MI.
    • Front Oncol. 2022 Mar 16;12:836937. doi: 10.3389/fonc.2022.836937.
    • Li-Fraumeni syndrome in Tunisian carriers with different and rare tumor phenotype: genotype-phenotype correlation.
    • Sassi H, Meddeb R, Cherif MA, Nasr C, Riahi A, Hannachi S, Belguith N, M'rad R.
    • BMC Med Genomics. 2022 Mar 4;15(1):44. doi: 10.1186/s12920-022-01189-w.
    • Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes.
    • Breast Cancer Association Consortium, Mavaddat N, Dorling L, Carvalho S, Allen J, González-Neira A, Keeman R, Bolla MK, Dennis J, Wang Q, Ahearn TU, Andrulis IL, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Blomqvist C, Bogdanova NV, Bojesen SE, Briceno I, Brüning T, Camp NJ, Campbell A, Castelao JE, Chang-Claude J, Chanock SJ, Chenevix-Trench G, Christiansen H, Czene K, Dörk T, Eriksson M, Evans DG, Fasching PA, Figueroa JD, Flyger H, Gabrielson M, Gago-Dominguez M, Geisler J, Giles GG, Guénel P, Hadjisavvas A, Hahnen E, Hall P, Hamann U, Hartikainen JM, Hartman M, Hoppe R, Howell A, Jakubowska A, Jung A, Khusnutdinova EK, Kristensen VN, Li J, Lim SH, Lindblom A, Loizidou MA, Lophatananon A, Lubinski J, Madsen MJ, Mannermaa A, Manoochehri M, Margolin S, Mavroudis D, Milne RL, Mohd Taib NA, Morra A, Muir K, Obi N, Osorio A, Park-Simon TW, Peterlongo P, Radice P, Saloustros E, Sawyer EJ, Schmutzler RK, Shah M, Sim X, Southey MC, Thorne H, Tomlinson I, Torres D, Truong T, Yip CH, Spurdle AB, Vreeswijk MPG, Dunning AM, García-Closas M, Pharoah PDP, Kvist A, Muranen TA, Nevanlinna H, Teo SH, Devilee P, Schmidt MK, Easton DF.
    • JAMA Oncol. 2022 Mar 1;8(3):e216744. doi: 10.1001/jamaoncol.2021.6744. Epub 2022 Mar 17.

    Press: Breast Tumor Features Reflecting Germline Variants May Improve Risk Prediction Models. (Precision Oncology News)

    Research news: Variants of Nine Breast Cancer Genes Associated With Severe Disease. (Medscape)

    • Recurrent Acromegaly in a Patient With a CHEK2 Mutation.
    • Perosevic M, Martinez-Lage M, Swearingen B, Tritos NA.
    • AACE Clin Case Rep. 2021 Nov 20 [eCollection Mar-Apr 2022];8(2):85-88. doi: 10.1016/j.aace.2021.10.006.
    • Neurofibromatosis 1 in the setting of dual diagnosis: Diagnostic and management conundrums.
    • Muthusamy K, El-Jabali A, Ongie LJ, Dhamija R, Babovic-Vuksanovic D.
    • Am J Med Genet A. 2022 Mar;188(3):911-918. doi: 10.1002/ajmg.a.62575. Epub 2021 Nov 19.
    • Case report
    • CDH1 germline variants are enriched in patients with colorectal cancer, gastric cancer, and breast cancer.
    • Adib E, El Zarif T, Nassar AH, Akl EW, Abou Alaiwi S, Mouhieddine TH, Esplin ED, Hatchell K, Nielsen SM, Rana HQ, Choueiri TK, Kwiatkowski DJ, Sonpavde G.
    • Br J Cancer. 2022 Mar;126(5):797-803. doi: 10.1038/s41416-021-01673-7. Epub 2021 Dec 23.
    • Racial and ethnic variation in multigene panel testing in a cohort of BRCA1/2-negative individuals who had genetic testing in a large urban comprehensive cancer center.
    • Tatineni S, Tarockoff M, Abdallah N, Purrington KS, Assad H, Reagle R, Petrucelli N, Simon MS.
    • Cancer Med. 2022 Mar;11(6):1465-1473. doi: 10.1002/cam4.4541. Epub 2022 Jan 17.
    • PARP inhibitors for metastatic castration-resistant prostate cancer: Biological rationale and current evidence.
    • Bienkowski M, Tomasik B, Braun M, Jassem J.
    • Cancer Treat Rev. 2022 Mar;104:102359. doi: 10.1016/j.ctrv.2022.102359.Epub 2022 Feb 11.
    • Review
    • Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update.
    • McGuigan A, Whitworth J, Andreou A, Hearn T; Genomics England Research Consortium, Tischkowitz M, Maher ER.
    • Eur J Hum Genet. 2022 Mar;30(3):265-270. doi: 10.1038/s41431-021-01013-6. Epub 2022 Jan 4.

    Commentary:

    The simplest explanation does not have to be preferred: co-occurrence of pathogenic variants in cancer-predisposing genes.

    • Polygenic risk modeling for prediction of epithelial ovarian cancer risk.
    • Dareng EO, Tyrer JP, Barnes DR, Jones MR, Yang X, Aben KKH, Adank MA, Agata S, Andrulis IL, Anton-Culver H, Antonenkova NN, Aravantinos G, Arun BK, Augustinsson A, Balmaña J, Bandera EV, Barkardottir RB, Barrowdale D, Beckmann MW, Beeghly-Fadiel A, Benitez J, Bermisheva M, Bernardini MQ, Bjorge L, Black A, Bogdanova NV, Bonanni B, Borg A, Brenton JD, Budzilowska A, Butzow R, Buys SS, Cai H, Caligo MA, Campbell I, Cannioto R, Cassingham H, Chang-Claude J, Chanock SJ, Chen K, Chiew YE, Chung WK, Claes KBM, Colonna S; GEMO Study Collaborators; GC-HBOC Study Collaborators; EMBRACE Collaborators, Cook LS, Couch FJ, Daly MB, Dao F, Davies E, de la Hoya M, de Putter R, Dennis J, DePersia A, Devilee P, Diez O, Ding YC, Doherty JA, Domchek SM, Dörk T, du Bois A, Dürst M, Eccles DM, Eliassen HA, Engel C, Evans GD, Fasching PA, Flanagan JM, Fortner RT, Machackova E, Friedman E, Ganz PA, Garber J, Gensini F, Giles GG, Glendon G, Godwin AK, Goodman MT, Greene MH, Gronwald J; OPAL Study Group; AOCS Group, Hahnen E, Haiman CA, Håkansson N, Hamann U, Hansen TVO, Harris HR, Hartman M, Heitz F, Hildebrandt MAT, Høgdall E, Høgdall CK, Hopper JL, Huang RY, Huff C, Hulick PJ, Huntsman DG, Imyanitov EN; KConFab Investigators; HEBON Investigators, Isaacs C, Jakubowska A, James PA, Janavicius R, Jensen A, Johannsson OT, John EM, Jones ME, Kang D, Karlan BY, Karnezis A, Kelemen LE, Khusnutdinova E, Kiemeney LA, Kim BG, Kjaer SK, Komenaka I, Kupryjanczyk J, Kurian AW, Kwong A, Lambrechts D, Larson MC, Lazaro C, Le ND, Leslie G, Lester J, Lesueur F, Levine DA, Li L, Li J, Loud JT, Lu KH, Lubinski J, Mai PL, Manoukian S, Marks JR, Matsuno RK, Matsuo K, May T, McGuffog L, McLaughlin JR, McNeish IA, Mebirouk N, Menon U, Miller A, Milne RL, Minlikeeva A, Modugno F, Montagna M, Moysich KB, Munro E, Nathanson KL, Neuhausen SL, Nevanlinna H, Yie JNY, Nielsen HR, Nielsen FC, Nikitina-Zake L, Odunsi K, Offit K, Olah E, Olbrecht S, Olopade OI, Olson SH, Olsson H, Osorio A, Papi L, Park SK, Parsons MT, Pathak H, Pedersen IS, Peixoto A, Pejovic T, Perez-Segura P, Permuth JB, Peshkin B, Peterlongo P, Piskorz A, Prokofyeva D, Radice P, Rantala J, Riggan MJ, Risch HA, Rodriguez-Antona C, Ross E, Rossing MA, Runnebaum I, Sandler DP, Santamariña M, Soucy P, Schmutzler RK, Setiawan VW, Shan K, Sieh W, Simard J, Singer CF, Sokolenko AP, Song H, Southey MC, Steed H, Stoppa-Lyonnet D, Sutphen R, Swerdlow AJ, Tan YY, Teixeira MR, Teo SH, Terry KL, Terry MB; OCAC Consortium; CIMBA Consortium, Thomassen M, Thompson PJ, Thomsen LCV, Thull DL, Tischkowitz M, Titus L, Toland AE, Torres D, Trabert B, Travis R, Tung N, Tworoger SS, Valen E, van Altena AM, van der Hout AH, Van Nieuwenhuysen E, van Rensburg EJ, Vega A, Edwards DV, Vierkant RA, Wang F, Wappenschmidt B, Webb PM, Weinberg CR, Weitzel JN, Wentzensen N, White E, Whittemore AS, Winham SJ, Wolk A, Woo YL, Wu AH, Yan L, Yannoukakos D, Zavaglia KM, Zheng W, Ziogas A, Zorn KK, Kleibl Z, Easton D, Lawrenson K, DeFazio A, Sellers TA, Ramus SJ, Pearce CL, Monteiro AN, Cunningham J, Goode EL, Schildkraut JM, Berchuck A, Chenevix-Trench G, Gayther SA, Antoniou AC, Pharoah PDP.
    • Eur J Hum Genet. 2022 Mar;30(3):349-362. doi: 10.1038/s41431-021-00987-7. Epub 2022 Jan 14.
    • Exome sequencing identifies RASSF1 and KLK3 germline variants in an Iranian multiple-case breast cancer family.
    • Radmanesh H, Liu D, Geffers R, Shandiz FH, Sadr-Nabavi A, Hillemanns P, Park-Simon TW, Dörk T.
    • Eur J Med Genet. 2022 Mar;65(3):104425. doi: 10.1016/j.ejmg.2022.104425. Epub 2022 Jan 13.
    • Case report
    • Breast and prostate cancer risk: The interplay of polygenic risk, rare pathogenic germline variants, and family history.
    • Hassanin E, May P, Aldisi R, Spier I, Forstner AJ, Nöthen MM, Aretz S, Krawitz P, Bobbili DR, Maj C.
    • Genet Med. 2022 Mar;24(3):576-585. doi: 10.1016/j.gim.2021.11.009. Epub 2021 Nov 18.
    • The ACMG SF v3.0 gene list increases returnable variant detection by 22% when compared with v2.0 in the ClinSeq cohort.
    • Johnston JJ, Brennan ML, Radenbaugh B, Yoo SJ, Hernandez SM; NHGRI Reverse Phenotyping Core, Lewis KL, Katz AE, Manolio TA, Biesecker LG.
    • Genet Med. 2022 Mar;24(3):736-743. doi: 10.1016/j.gim.2021.11.012. Epub 2021 Nov 18.
    • A decade of RAD51C and RAD51D germline variants in cancer.
    • Boni J, Idani A, Roca C, Feliubadaló L, Tomiak E, Weber E, Foulkes WD, Orthwein A, El Haffaf Z, Lazaro C, Rivera B.
    • Hum Mutat. 2022 Mar;43(3):285-298. doi: 10.1002/humu.24319. Epub 2021 Dec 30.
    • Review
    • Risk-Reducing Bilateral Salpingo-Oophorectomy for Ovarian Cancer: A Review and Clinical Guide for Hereditary Predisposition Genes.
    • Liu YL, Breen K, Catchings A, Ranganathan M, Latham A, Goldfrank DJ, Grisham RN, Long Roche K, Frey MK, Chi DS, Abu-Rustum N, Aghajanian C, Offit K, Stadler ZK.
    • JCO Oncol Pract. 2022 Mar;18(3):201-209. doi: 10.1200/OP.21.00382. Epub 2021 Sep 28.

    Commentary:

    Prophylactic Salpingo-Opphorectomy in Patients With Hereditary Predisposition Genes for Ovarian Cancer.

    • Cyclin-Dependent Kinase 4/6 Inhibitor Outcomes in Patients With Advanced Breast Cancer Carrying Germline Pathogenic Variants in DNA Repair-Related Genes.
    • Bruno L, Ostinelli A, Waisberg F, Enrico D, Ponce C, Rivero S, Blanco A, Zarba M, Loza M, Fabiano V, Amat M, Pombo MT, Noro L, Chacón M, Coló F, Chacón R, Nadal J, Nervo A, Costanzo V.
    • JCO Precis Oncol. 2022 Mar;6:e2100140. doi: 10.1200/PO.21.00140.
    • Calibration of polygenic risk scores is required prior to clinical implementation: results of three common cancers in UKB.
    • Wei J, Shi Z, Na R, Resurreccion WK, Wang CH, Duggan D, Zheng SL, Hulick PJ, Helfand BT, Xu J.
    • J Med Genet. 2022 Mar;59(3):243-247. doi: 10.1136/jmedgenet-2020-107286. Epub 2020 Dec 21.
    • Splicing predictions, minigene analyses and ACMG/AMP clinical classification of 42 germline PALB2 splice-site variants.
    • Valenzuela-Palomo A, Bueno-Martínez E, Sanoguera-Miralles L, Lorca V, Fraile-Bethencourt E, Esteban-Sánchez A, Gómez-Barrero S, Carvalho S, Allen J, García-Álvarez A, Pérez-Segura P, Dorling L, Easton DF, Devilee P, Vreeswijk MP, de la Hoya M, Velasco EA.
    • J Pathol. 2022 Mar;256(3):321-334. doi: 10.1002/path.5839. Epub 2021 Dec 28.
    • Mutations in exon region of BRCA1-related RING domain 1 gene and risk of breast cancer.
    • Wu J, Aini A, Ma B.
    • Mol Genet Genomic Med. 2022 Mar;10(3):e1847. doi: 10.1002/mgg3.1847. Epub 2022 Jan 27.
    • Whole-genome risk prediction of common diseases in human preimplantation embryos.
    • Kumar A, Im K, Banjevic M, Ng PC, Tunstall T, Garcia G, Galhardo L, Sun J, Schaedel ON, Levy B, Hongo D, Kijacic D, Kiehl M, Tran ND, Klatsky PC, Rabinowitz M.
    • Nat Med. 2022 Mar;28(3):513-516. doi: 10.1038/s41591-022-01735-0. Epub 2022 Mar 21.

    Commentary:

    Polygenic embryo testing: understated ethics, unclear utility.

    Commentary:

    The uncertain science of preimplantation and prenatal genetic testing.

    Press: Preimplantation Genetic Testing Could be Informed by Whole-Genome Reconstruction, Study Shows. (GenomeWeb)

    • The neglected members of the family: non-BRCA mutations in the Fanconi anemia/BRCA pathway and reproduction.
    • Vanni VS, Campo G, Cioffi R, Papaleo E, Salonia A, Viganò P, Lambertini M, Candiani M, Meirow D, Orvieto R.
    • Hum Reprod Update. 2022 Feb 28;28(2):296-311. doi: 10.1093/humupd/dmab045.
    • Review
    • A Case Report of CHEK2 and MUTYH Germline Mutations Associated With Cholangiocarcinoma in a Young Patient.
    • Rehman O, Sackfield B, Thoguluva Chandrasekar V, Oliver J, Aswath G.
    • Cureus. 2022 Feb 26;14(2):e22631. doi: 10.7759/cureus.22631.
    • CHEK2p.I157T Mutation Is Associated with Increased Risk of Adult-Type Ovarian Granulosa Cell Tumors.
    • Švajdler P, Vasovcák P, Švajdler M, Šedivcová M, Urbán V, Michal M, Mezencev R.
    • Cancers (Basel). 2022 Feb 25;14(5):1208. doi: 10.3390/cancers14051208.
    • Association between germline pathogenic variants and breast cancer risk in Japanese women: the HERPACC study.
    • Kasugai Y, Kohmoto T, Taniyama Y, Koyanagi YN, Usui Y, Iwase M, Oze I, Yamaguchi R, Ito H, Imoto I, Matsuo K.
    • Cancer Sci. 2022 Feb 25. doi: 10.1111/cas.15312. Epub ahead of print.
    • Clinical Benefit With PARP Inhibitor for Pathogenic Germline FANCA-Mutated Relapsed Epithelial Ovarian Cancer: A Case Report.
    • Qian B, Leng W, Yan Z, Lu J, Chen S, Yi H, Jiang Z.
    • Front Oncol. 2022 Feb 25;12:778545. doi: 10.3389/fonc.2022.778545.
    • Variants of Nine Breast Cancer Genes Associated With Severe Disease.
    • Worcester S.
    • Medscape. 2022 Feb 25.

    Original research:

    Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes.

    • The First Case Report of a Patient With Oligodendroglioma Harboring CHEK2 Germline Mutation.
    • Li X, Xue H, Luo N, Han T, Li M, Jia D.
    • Front Genet. 2022 Feb 23;13:718689. doi: 10.3389/fgene.2022.718689.
    • Breast Cancer Screening with MRI Recommended for Women with Pathogenic Variants.
    • [No author given]
    • Inside Precision Medicine. Topics. Oncology. 2022 Feb 23.

    Original research:

    Breast Cancer Screening Strategies for Women With ATM, CHEK2, and PALB2 Pathogenic Variants: A Comparative Modeling Analysis.

    • Half of germline pathogenic and likely pathogenic variants found on panel tests do not fulfil NHS testing criteria.
    • Andoni T, Wiggins J, Robinson R, Charlton R, Sandberg M, Eeles R.
    • Sci Rep. 2022 Feb 21. doi: 10.1038/s41598-022-06376-4. [Epub ahead of print]

    Research news: NHS gene testing misses half of people at risk of cancer, study warns. (Sky News)

    • PARP Inhibitors Show Frontline Prostate Cancer Benefit; Conflicting Biomarker Data Raise Questions.
    • Hopkins C.
    • Precision Oncology News. Disease Areas. Cancer. 2022 Feb 17.
    • Conference report
    • Association between 15 known or potential breast cancer susceptibility genes and breast cancer risks in Chinese women.
    • Fu F, Zhang D, Hu L, Sundaram S, Ying D, Zhang Y, Fu S, Zhang J, Yao L, Xu Y, Xie Y.
    • Cancer Biol Med. 2021 Oct 5 [2022 Feb 15];19(2):253–62. doi: 10.20892/j.issn.2095-3941.2021.0358. Epub ahead of print.
    • Functional Analysis Identifies Damaging CHEK2 Missense Variants Associated with Increased Cancer Risk.
    • Boonen RACM, Wiegant WW, Celosse N, Vroling B, Heijl S, Kote-Jarai Z, Mijuskovic M, Cristea S, Solleveld-Westerink N, van Wezel T, Beerenwinkel N, Eeles R, Devilee P, Vreeswijk MPG, Marra G, van Attikum H.
    • Cancer Res. 2022 Feb 15;82(4):615-631. doi: 10.1158/0008-5472.CAN-21-1845.
    • Risk of Second Primary Thyroid Cancer in Women with Breast Cancer.
    • Cieszynska M, Kluzniak W, Wokolorczyk D, Cybulski C, Huzarski T, Gronwald J, Falco M, Debniak T, Jakubowska A, Derkacz R, Marciniak W, Lener M, Woronko K, Mocarz D, Baszuk P, Bryskiewicz M, Narod SA, Lubinski J.
    • Cancers (Basel). 2022 Feb 15;14(4):957. doi: 10.3390/cancers14040957.
    • Case Report: A BRCA2 Mutation Identified Through Next-Generation Sequencing in a Birt-Hogg-Dubè Syndrome Family.
    • Bandini E, Cangini I, Arcangeli V, Ravegnani M, Andreotti V, Prisinzano G, Pastorino L, Martinelli G, Falcini F, Calistri D, Zampiga V, Danesi R.
    • Front Oncol. 2022 Feb 14;12:835346. doi: 10.3389/fonc.2022.835346.
    • Precision Medicine for BRCA/PALB2-Mutated Pancreatic Cancer and Emerging Strategies to Improve Therapeutic Responses to PARP Inhibition.
    • Principe DR.
    • Cancers (Basel). 2022 Feb 11;14(4):897. doi: 10.3390/cancers14040897.
    • Serous Tubal Intraepithelial Carcinoma in a Risk-reducing Salpingo-oophorectomy Specimen From a RAD51D Mutation Carrier: A Case Report.
    • Gregory-Davis KJ, Walker A, Colello LS, McKinnon W, Everett E, Chang MC.
    • Int J Gynecol Pathol. 2022 Feb 11. doi: 10.1097/PGP.0000000000000857. Epub ahead of print.
    • Case report
    • Single-Nucleotide Polymorphisms in LEP and LEPR Associated With Breast Cancer Risk: Results From a Multicenter Case-Control Study in Chinese Females.
    • Li L, Meng X, Liu L, Xiang Y, Wang F, Yu L, Zhou F, Zheng C, Zhou W, Cui S, Tian F, Fan Z, Geng C, Cao X, Yang Z, Wang X, Liang H, Wang S, Jiang H, Duan X, Wang H, Li G, Wang Q, Zhang J, Jin F, Tang J, Li L, Zhu S, Zuo W, Ye C, Yin G, Ma Z, Huang S, Yu Z.
    • Front Oncol. 2022 Feb 10;12:809570. doi: 10.3389/fonc.2022.809570.
    • Unique ER PR expression pattern in breast cancers with CHEK2 mutation: a hormone receptor and HER2 analysis based on germline cancer predisposition genes.
    • Wei G, Teng M, Rosa M, Wang X.
    • Breast Cancer Res. 2022 Feb 8;24(1):11. doi: 10.1186/s13058-022-01507-1.
    • Hereditary Ovarian Carcinoma: Cancer Pathogenesis Looking beyond BRCA1 and BRCA2.
    • Samuel D, Diaz-Barbe A, Pinto A, Schlumbrecht M, George S.
    • Cells. 2022 Feb 4;11(3):539. doi: 10.3390/cells11030539.
    • Association of Interleukin-10 Polymorphism (rs1800896, rs1800871, and rs1800872) With Breast Cancer Risk: An Updated Meta-Analysis Based on Different Ethnic Groups.
    • Li L, Xiong W, Li D, Cao J.
    • Front Genet. 2022 Feb 4;13:829283. doi: 10.3389/fgene.2022.829283.
    • Mutation Landscape of Homologous Recombination Repair Genes in Epithelial Ovarian Cancer in China and Its Relationship With Clinicopathlological Characteristics.
    • Yao Q, Liu Y, Zhang L, Dong L, Bao L, Bai Q, Cui Q, Xu J, Li M, Liu J, Chuai S, Ying J, Zhang Z, Zhou X.
    • Front Oncol. 2022 Feb 3;12:709645. doi: 10.3389/fonc.2022.709645.
    • Haplotypes of single cancer driver genes and their local ancestry in a highly admixed long-lived population of Northeast Brazil.
    • Galisa SLG, Jacob PL, Farias AA, Lemes RB, Alves LU, Nóbrega JCL, Zatz M, Santos S, Weller M.
    • Genet Mol Biol. 2022 Feb 2;45(1):e20210172. doi: 10.1590/1678-4685-GMB-2021-0172.
    • Ovarian toxicity of carboplatin and paclitaxel in mouse carriers of mutation in BRIP1 tumor suppressor gene.
    • Ntemou E, Vidal PD, Alexandri C, Van den Steen G, Lambertini M, Demeestere I.
    • Sci Rep. 2022 Feb 1;12(1):1658. doi: 10.1038/s41598-022-05357-x.
    • The CHEK2*1100delC Mutation and Adolescent Breast Cancer: A Case Report of Breast Cancer in a 19-Year-Old and a Review of the Literature.
    • Soleimani T, Engwall AJ, Bourdon C, Torabi MA, Fortes T.
    • Breast Care (Basel). 2022 Feb;17(1):85-89. doi: 10.1159/000513679. Epub 2021 Mar 8.
    • Case report
    • Update Breast Cancer 2021 Part 4 - Prevention and Early Stages.
    • Thomssen C, Fehm TN, Stickeler E, Fasching PA, Janni W, Kolberg-Liedtke C, Kolberg HC, Lüftner D, Müller V, Schütz F, Belleville E, Bader S, Untch M, Welslau M, Thill M, Hartkopf AD, Tesch H, Ditsch N, Lux MP, Wöckel A, Aktas B, Schneeweiss A, Würstlein R.
    • Geburtshilfe Frauenheilkd. 2022 Feb 11 [eCollection 2022 Feb];82(2):206-214. doi: 10.1055/a-1724-9639.
    • The splicing effect of variants at branchpoint elements in cancer genes.
    • Canson DM, Dumenil T, Parsons MT, O'Mara TA, Davidson AL, Okano S, Signal B, Mercer TR, Glubb DM, Spurdle AB.
    • Genet Med. 2022 Feb;24(2):398-409. doi: 10.1016/j.gim.2021.09.020. Epub 2021 Nov 30.
    • [SCREENING WOMEN AT HIGH RISK FOR BREAST CANCER - BRCA AND BEYOND].
    • Hermann N, Westergard S, McCready DR.
    • Harefuah. 2022 Feb;161(2):95-100. Hebrew.
    • [Article in Hebrew]
    • High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer.
    • Evans DG, van Veen EM, Byers HJ, Evans SJ, Burghel GJ, Woodward ER, Harkness EF, Eccles DM, Greville-Haygate SL, Ellingford JM, Bowers NL, Pereira M, Wallace AJ, Howell SJ, Howell A, Lalloo F, Newman WG, Smith MJ.
    • J Med Genet. 2022 Feb;59(2):115-121. doi: 10.1136/jmedgenet-2020-107347. Epub 2021 Mar 23.
    • Letter to the Editor: CHEK2 I157T - Pluto Among Numerous Low-Risk Genetic Factors Requiring Discharge From a Range of Pathogenic Variants?
    • Ivanov M, Sharova M, Olsen A, Lebedeva A, Ignatova E, Mouse G, Mileyko V.
    • J Natl Compr Canc Netw. 2022 Feb;20(2):xxv. doi: 10.6004/jnccn.2021.7103.

    Guideline:

    Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology.

    • CHEK2 mutations and papillary thyroid cancer: correlation or coincidence?
    • Koen K, Robin P, Eline N.
    • Hered Cancer Clin Pract. 2022 Jan 31;20(1):5. doi: 10.1186/s13053-022-00211-7.
    • Population-Based Penetrance of Deleterious Clinical Variants.
    • Forrest IS, Chaudhary K, Vy HMT, Petrazzini BO, Bafna S, Jordan DM, Rocheleau G, Loos RJF, Nadkarni GN, Cho JH, Do R.
    • JAMA. 2022 Jan 25;327(4):350-359. doi: 10.1001/jama.2021.23686.

    Press: Chance Most “Pathogenic” Variants Will Actually Cause Disease Is Low. (Inside Precision Medicine)

    Press: Pathogenic Variants in Disease-Causing Genes Have Low Penetrance on Average, Study Finds. (GenomeWeb)

    • The Mutational Landscape of Early-Onset Breast Cancer: A Next-Generation Sequencing Analysis.
    • Andrikopoulou A, Chatzinikolaou S, Kyriopoulos I, Bletsa G, Kaparelou M, Liontos M, Dimopoulos MA, Zagouri F.
    • Front Oncol. 2022 Jan 21;11:797505. doi: 10.3389/fonc.2021.797505.
    • Rare germline copy number variants (CNVs) and breast cancer risk.
    • Dennis J, Tyrer JP, Walker LC, Michailidou K, Dorling L, Bolla MK, Wang Q, Ahearn TU, Andrulis IL, Anton-Culver H, Antonenkova NN, Arndt V, Aronson KJ, Freeman LEB, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Bogdanova NV, Bojesen SE, Brenner H, Castelao JE, Chang-Claude J, Chenevix-Trench G, Clarke CL; NBCS Collaborators, Collée JM; CTS Consortium, Couch FJ, Cox A, Cross SS, Czene K, Devilee P, Dörk T, Dossus L, Eliassen AH, Eriksson M, Evans DG, Fasching PA, Figueroa J, Fletcher O, Flyger H, Fritschi L, Gabrielson M, Gago-Dominguez M, García-Closas M, Giles GG, González-Neira A, Guénel P, Hahnen E, Haiman CA, Hall P, Hollestelle A, Hoppe R, Hopper JL, Howell A; ABCTB Investigators; kConFab/AOCS Investigators, Jager A, Jakubowska A, John EM, Johnson N, Jones ME, Jung A, Kaaks R, Keeman R, Khusnutdinova E, Kitahara CM, Ko YD, Kosma VM, Koutros S, Kraft P, Kristensen VN, Kubelka-Sabit K, Kurian AW, Lacey JV, Lambrechts D, Larson NL, Linet M, Ogrodniczak A, Mannermaa A, Manoukian S, Margolin S, Mavroudis D, Milne RL, Muranen TA, Murphy RA, Nevanlinna H, Olson JE, Olsson H, Park-Simon TW, Perou CM, Peterlongo P, Plaseska-Karanfilska D, Pylkäs K, Rennert G, Saloustros E, Sandler DP, Sawyer EJ, Schmidt MK, Schmutzler RK, Shibli R, Smeets A, Soucy P, Southey MC, Swerdlow AJ, Tamimi RM, Taylor JA, Teras LR, Terry MB, Tomlinson I, Troester MA, Truong T, Vachon CM, Wendt C, Winqvist R, Wolk A, Yang XR, Zheng W, Ziogas A, Simard J, Dunning AM, Pharoah PDP, Easton DF.
    • Commun Biol. 2022 Jan 18;5(1):65. doi: 10.1038/s42003-021-02990-6.
    • Integration of tumour sequencing and case-control data to assess pathogenicity of RAD51C missense variants in familial breast cancer.
    • Lim BWX, Li N, Rowley SM, Thompson ER, McInerny S, Zethoven M, Scott RJ, Devereux L, Sloan EK, James PA, Campbell IG.
    • NPJ Breast Cancer. 2022 Jan 17;8(1):10. doi: 10.1038/s41523-021-00373-y.
    • Morphologic and Genomic Characteristics of Breast Cancers Occurring in Individuals with Lynch Syndrome.
    • Schwartz CJ, da Silva EM, Marra A, Gazzo AM, Selenica P, Rai VK, Mandelker D, Pareja F, Misyura M, D'Alfonso TM, Brogi E, Drullinsky P, Razavi P, Robson ME, Drago JZ, Wen HY, Zhang L, Weigelt B, Shia J, Reis-Filho JS, Zhang H.
    • Clin Cancer Res. 2022 Jan 15;28(2):404-413. doi: 10.1158/1078-0432.CCR-21-2027. Epub 2021 Oct 19.
    • Polygenic risk modeling for prediction of epithelial ovarian cancer risk.
    • Dareng EO, Tyrer JP, Barnes DR, Jones MR, Yang X, Aben KKH, Adank MA, Agata S, Andrulis IL, Anton-Culver H, Antonenkova NN, Aravantinos G, Arun BK, Augustinsson A, Balmaña J, Bandera EV, Barkardottir RB, Barrowdale D, Beckmann MW, Beeghly-Fadiel A, Benitez J, Bermisheva M, Bernardini MQ, Bjorge L, Black A, Bogdanova NV, Bonanni B, Borg A, Brenton JD, Budzilowska A, Butzow R, Buys SS, Cai H, Caligo MA, Campbell I, Cannioto R, Cassingham H, Chang-Claude J, Chanock SJ, Chen K, Chiew YE, Chung WK, Claes KBM, Colonna S; GEMO Study Collaborators; GC-HBOC Study Collaborators; EMBRACE Collaborators, Cook LS, Couch FJ, Daly MB, Dao F, Davies E, de la Hoya M, de Putter R, Dennis J, DePersia A, Devilee P, Diez O, Ding YC, Doherty JA, Domchek SM, Dörk T, du Bois A, Dürst M, Eccles DM, Eliassen HA, Engel C, Evans GD, Fasching PA, Flanagan JM, Fortner RT, Machackova E, Friedman E, Ganz PA, Garber J, Gensini F, Giles GG, Glendon G, Godwin AK, Goodman MT, Greene MH, Gronwald J; OPAL Study Group; AOCS Group, Hahnen E, Haiman CA, Håkansson N, Hamann U, Hansen TVO, Harris HR, Hartman M, Heitz F, Hildebrandt MAT, Høgdall E, Høgdall CK, Hopper JL, Huang RY, Huff C, Hulick PJ, Huntsman DG, Imyanitov EN; KConFab Investigators; HEBON Investigators, Isaacs C, Jakubowska A, James PA, Janavicius R, Jensen A, Johannsson OT, John EM, Jones ME, Kang D, Karlan BY, Karnezis A, Kelemen LE, Khusnutdinova E, Kiemeney LA, Kim BG, Kjaer SK, Komenaka I, Kupryjanczyk J, Kurian AW, Kwong A, Lambrechts D, Larson MC, Lazaro C, Le ND, Leslie G, Lester J, Lesueur F, Levine DA, Li L, Li J, Loud JT, Lu KH, Lubinski J, Mai PL, Manoukian S, Marks JR, Matsuno RK, Matsuo K, May T, McGuffog L, McLaughlin JR, McNeish IA, Mebirouk N, Menon U, Miller A, Milne RL, Minlikeeva A, Modugno F, Montagna M, Moysich KB, Munro E, Nathanson KL, Neuhausen SL, Nevanlinna H, Yie JNY, Nielsen HR, Nielsen FC, Nikitina-Zake L, Odunsi K, Offit K, Olah E, Olbrecht S, Olopade OI, Olson SH, Olsson H, Osorio A, Papi L, Park SK, Parsons MT, Pathak H, Pedersen IS, Peixoto A, Pejovic T, Perez-Segura P, Permuth JB, Peshkin B, Peterlongo P, Piskorz A, Prokofyeva D, Radice P, Rantala J, Riggan MJ, Risch HA, Rodriguez-Antona C, Ross E, Rossing MA, Runnebaum I, Sandler DP, Santamariña M, Soucy P, Schmutzler RK, Setiawan VW, Shan K, Sieh W, Simard J, Singer CF, Sokolenko AP, Song H, Southey MC, Steed H, Stoppa-Lyonnet D, Sutphen R, Swerdlow AJ, Tan YY, Teixeira MR, Teo SH, Terry KL, Terry MB; OCAC Consortium; CIMBA Consortium, Thomassen M, Thompson PJ, Thomsen LCV, Thull DL, Tischkowitz M, Titus L, Toland AE, Torres D, Trabert B, Travis R, Tung N, Tworoger SS, Valen E, van Altena AM, van der Hout AH, Van Nieuwenhuysen E, van Rensburg EJ, Vega A, Edwards DV, Vierkant RA, Wang F, Wappenschmidt B, Webb PM, Weinberg CR, Weitzel JN, Wentzensen N, White E, Whittemore AS, Winham SJ, Wolk A, Woo YL, Wu AH, Yan L, Yannoukakos D, Zavaglia KM, Zheng W, Ziogas A, Zorn KK, Kleibl Z, Easton D, Lawrenson K, DeFazio A, Sellers TA, Ramus SJ, Pearce CL, Monteiro AN, Cunningham J, Goode EL, Schildkraut JM, Berchuck A, Chenevix-Trench G, Gayther SA, Antoniou AC, Pharoah PDP.
    • Eur J Hum Genet. 2022 Jan 14. doi: 10.1038/s41431-021-00987-7. Epub ahead of print.
    • Case Report: Effectiveness of Targeted Treatment in a Patient With Pancreatic Cancer Harboring PALB2 Germline Mutation and KRAS Somatic Mutation.
    • Wu W, Liu Y, Jin Y, Liu L, Guo Y, Xu M, Hao Q, Li D, Fang W, Zhang A, Zhao P.
    • Front Med (Lausanne). 2022 Jan 13;8:746637. doi: 10.3389/fmed.2021.746637.
    • New Insights Into c.815_824dup Pathogenic Variant of BRCA1 in Inherited Breast Cancer: A Founder Mutation of West African Origin.
    • Diop JPD, Sène ARG, Dia Y, Ba SA, Mbacke SS, Ly CAT, Sarr PD, Diouf D, Ka S, Mbengue B, Gueye SMK, Diop PS, Sylla Niang M, Gueye PM, Lopez Sall P, Dem A, Cisse A, Dieye A, Ndiaye R.
    • Front Oncol. 2022 Jan 13;11:810060. doi: 10.3389/fonc.2021.810060.
    • Associations of genetic susceptibility to 16 cancers with risk of breast cancer overall and by intrinsic subtypes.
    • Choi J, Jia G, Wen W, Tao R, Long J, Shu XO, Zheng W.
    • HGG Adv. 2021 Dec 10 [eCollection 2022 Jan 13];3(1):100077. doi: 10.1016/j.xhgg.2021.100077.
    • CDK5RAP3, a New BRCA2 Partner That Regulates DNA Repair, Is Associated with Breast Cancer Survival.
    • Minguillón J, Ramírez MJ, Rovirosa L, Bustamante-Madrid P, Camps-Fajol C, Ruiz de Garibay G, Shimelis H, Montanuy H, Pujol R, Hernandez G, Bogliolo M, Castillo P, Soucy P, Martrat G, Gómez A, Cuadras D, García MJ, Gayarre J, Cimba, Lázaro C, Benítez J, Couch FJ, Pujana MA, Surrallés J.
    • Cancers (Basel). 2022 Jan 12;14(2):353. doi: 10.3390/cancers14020353.
    • Characterization of Synonymous BRCA1:c.132C>T as a Pathogenic Variant.
    • Li J, Wang P, Zhang C, Han S, Xiao H, Liu Z, Wang X, Liu W, Wei B, Ma J, Li H, Guo Y.
    • Front Oncol. 2022 Jan 11;11:812656. doi: 10.3389/fonc.2021.812656.
    • Functional analysis of the 1p34.3 risk locus implicates GNL2 in high-grade serous ovarian cancer.
    • Nakamura K, Reid BM, Chen A, Chen Z, Goode EL, Permuth JB, Teer JK, Tyrer J, Yu X, Kanetsky PA, Pharoah PD, Gayther SA, Sellers TA, Lawrenson K, Karreth FA.
    • Am J Hum Genet. 2022 Jan 6;109(1):116-135. doi: 10.1016/j.ajhg.2021.11.020. Epub 2021 Dec 28.
    • Common variants in breast cancer risk loci predispose to distinct tumor subtypes.
    • Ahearn TU, Zhang H, Michailidou K, Milne RL, Bolla MK, Dennis J, Dunning AM, Lush M, Wang Q, Andrulis IL, Anton-Culver H, Arndt V, Aronson KJ, Auer PL, Augustinsson A, Baten A, Becher H, Behrens S, Benitez J, Bermisheva M, Blomqvist C, Bojesen SE, Bonanni B, Børresen-Dale AL, Brauch H, Brenner H, Brooks-Wilson A, Brüning T, Burwinkel B, Buys SS, Canzian F, Castelao JE, Chang-Claude J, Chanock SJ, Chenevix-Trench G, Clarke CL; NBCS Collaborators, Collée JM, Cox A, Cross SS, Czene K, Daly MB, Devilee P, Dörk T, Dwek M, Eccles DM, Evans DG, Fasching PA, Figueroa J, Floris G, Gago-Dominguez M, Gapstur SM, García-Sáenz JA, Gaudet MM, Giles GG, Goldberg MS, González-Neira A, Alnæs GIG, Grip M, Guénel P, Haiman CA, Hall P, Hamann U, Harkness EF, Heemskerk-Gerritsen BAM, Holleczek B, Hollestelle A, Hooning MJ, Hoover RN, Hopper JL, Howell A; ABCTB Investigators; kConFab/AOCS Investigators, Jakimovska M, Jakubowska A, John EM, Jones ME, Jung A, Kaaks R, Kauppila S, Keeman R, Khusnutdinova E, Kitahara CM, Ko YD, Koutros S, Kristensen VN, Krüger U, Kubelka-Sabit K, Kurian AW, Kyriacou K, Lambrechts D, Lee DG, Lindblom A, Linet M, Lissowska J, Llaneza A, Lo WY, MacInnis RJ, Mannermaa A, Manoochehri M, Margolin S, Martinez ME, McLean C, Meindl A, Menon U, Nevanlinna H, Newman WG, Nodora J, Offit K, Olsson H, Orr N, Park-Simon TW, Patel AV, Peto J, Pita G, Plaseska-Karanfilska D, Prentice R, Punie K, Pylkäs K, Radice P, Rennert G, Romero A, Rüdiger T, Saloustros E, Sampson S, Sandler DP, Sawyer EJ, Schmutzler RK, Schoemaker MJ, Schöttker B, Sherman ME, Shu XO, Smichkoska S, Southey MC, Spinelli JJ, Swerdlow AJ, Tamimi RM, Tapper WJ, Taylor JA, Teras LR, Terry MB, Torres D, Troester MA, Vachon CM, van Deurzen CHM, van Veen EM, Wagner P, Weinberg CR, Wendt C, Wesseling J, Winqvist R, Wolk A, Yang XR, Zheng W, Couch FJ, Simard J, Kraft P, Easton DF, Pharoah PDP, Schmidt MK, García-Closas M, Chatterjee N.
    • Breast Cancer Res. 2022 Jan 4;24(1):2. doi: 10.1186/s13058-021-01484-x.
    • Monoallelic MUTYH pathogenic variants ascertained via multi-gene hereditary cancer panels are not associated with colorectal, endometrial, or breast cancer.
    • Thompson AB, Sutcliffe EG, Arvai K, Roberts ME, Susswein LR, Marshall ML, Torene R, Postula KJV, Hruska KS, Bai S.
    • Fam Cancer. 2022 Jan 4. doi: 10.1007/s10689-021-00285-7. Epub ahead of print.
    • ATM: Functions of ATM Kinase and Its Relevance to Hereditary Tumors.
    • Ueno S, Sudo T, Hirasawa A.
    • Int J Mol Sci. 2022 Jan 4;23(1):523. doi: 10.3390/ijms23010523.
    • Landscape of homologous recombination deficiencies in solid tumours: analyses of two independent genomic datasets.
    • Lai Z, Brosnan M, Sokol ES, Xie M, Dry JR, Harrington EA, Barrett JC, Hodgson D.
    • BMC Cancer. 2022 Jan 3;22(1):13. doi: 10.1186/s12885-021-09082-y.
    • Gene-Level Germline Contributions to Clinical Risk of Recurrence Scores in Black and White Patients with Breast Cancer.
    • Patel A, Garcia-Closas M, Olshan AF, Perou CM, Troester MA, Love MI, Bhattacharya A.
    • Cancer Res. 2022 Jan 1;82(1):25-35. doi: 10.1158/0008-5472.CAN-21-1207. Epub 2021 Oct 28.
    • Revisiting the Implications of Positive Germline Testing Results Using Multi-gene Panels in Breast Cancer Patients.
    • Tsaousis GN, Papadopoulou E, Agiannitopoulos K, Pepe G, Tsoulos N, Boukovinas I, Floros T, Iosifidou R, Katopodi O, Koumarianou A, Markopoulos C, Papazisis K, Venizelos V, Kapsimalis A, Xepapadakis G, Psyrri A, Banu E, Eniu DT, Blidaru A, Stanculeanu DL, Ungureanu A, Ozmen V, Tansan S, Tekinel M, Yalcin S, Nasioulas G.
    • Cancer Genomics Proteomics. 2022 Jan-Feb;19(1):60-78. doi: 10.21873/cgp.20304.
    • A catalog of curated breast cancer genes.
    • Bose M, Benada J, Thatte JV, Kinalis S, Ejlertsen B, Nielsen FC, Sørensen CS, Rossing M.
    • Breast Cancer Res Treat. 2022 Jan;191(2):431-441. doi: 10.1007/s10549-021-06441-y. Epub 2021 Nov 10.
    • Uptake and timing of bilateral and contralateral risk-reducing mastectomy in women with Li-Fraumeni syndrome.
    • Siegel A, Bremer RC, Klein WMP, Savage SA, Loud JT, Khincha PP.
    • Breast Cancer Res Treat. 2022 Jan;191(1):159-167. doi: 10.1007/s10549-021-06410-5. Epub 2021 Oct 15.
    • Double heterozygous pathogenic variants in the BRCA1 and BRCA2 genes in a patient with bilateral metachronous breast cancer.
    • Mampel A, Sottile ML, Denita-Juárez SP, Vargas AL, Vargas-Roig LM.
    • Cancer Genet. 2022 Jan;260-261:14-17. doi: 10.1016/j.cancergen.2021.11.003. Epub 2021 Nov 10.
    • Case report
    • Investigation of discordant sibling pairs from hereditary breast cancer families and analysis of a rare PMS1 variant.
    • Landry KK, Seward DJ, Dragon JA, Slavik M, Xu K, McKinnon WC, Colello L, Sweasy J, Wallace SS, Cuke M, Wood ME.
    • Cancer Genet. 2022 Jan;260-261:30-36. doi: 10.1016/j.cancergen.2021.11.004. Epub 2021 Nov 15.
    • Dominant-negative pathogenic variant BRIP1 c.1045G>C is a high-risk allele for non-mucinous epithelial ovarian cancer: a case-control study.
    • Flaum N, van Veen EM, Smith O, Amico S, Newman WG, Crosbie EJ, Edmondson R, Smith MJ, Evans DG.
    • Clin Genet. 2022 Jan;101(1):48-54. doi: 10.1111/cge.14068. Epub 2021 Oct 7.
    • Comparing breast cancer imaging characteristics of CHEK2 with BRCA1 and BRCA2 gene mutation carriers.
    • Ghunaim H, Laenen A, De Keyzer F, Soens J, Keupers M, Postema S, Neven P, Van Ongeval C.
    • Eur J Radiol. 2022 Jan;146:110074. doi: 10.1016/j.ejrad.2021.110074. Epub 2021 Nov 26.
    • Risk of cancer in heterozygous relatives of patients with Fanconi anemia.
    • McReynolds LJ, Giri N, Leathwood L, Risch MO, Carr AG, Alter BP.
    • Genet Med. 2022 Jan;24(1):245-250. doi: 10.1016/j.gim.2021.08.013. Epub 2021 Nov 30.
    • New Perspectives on the Recurrent Monoallelic Germline Mutations of DNA Repair and Checkpoint Genes and Clinical Variability.
    • Sahin I, Saat H.
    • Genet Test Mol Biomarkers. 2022 Jan;26(1):17-25. doi: 10.1089/gtmb.2021.0108.
    • Background splicing as a predictor of aberrant splicing in genetic disease.
    • Alexieva D, Long Y, Sarkar R, Dhayan H, Bruet E, Winston Rm, Vorechovsky I, Castellano L, Dibb NJ.
    • RNA Biol. 2022 Jan;19(1):256-265. doi: 10.1080/15476286.2021.2024031.
    • Homologous Recombination Deficiencies and Hereditary Tumors.
    • Yamamoto H, Hirasawa A.
    • Int J Mol Sci. 2021 Dec 29;23(1):348. doi: 10.3390/ijms23010348.
    • Association of Family Cancer History With Pathogenic Variants in Specific Breast Cancer Susceptibility Genes.
    • Kurian AW, Abrahamse P, Ward KC, Hamilton AS, Deapen D, Berek JS, Hoang L, Yussuf A, Dolinsky J, Brown K, Slavin T, Hofer TP, Katz SJ.
    • JCO Precis Oncol. 2021 Dec 22;5:PO.21.00261. doi: 10.1200/PO.21.00261.
    • Clinical significance of gene polymorphisms for hereditary predisposition to breast and ovarian cancer (review of literature).
    • Vodolazhsky DI, Mayakovskaya AV, Kubyshkin AV, Aliev KA, Fomochkina II.
    • Klin Lab Diagn. 2021 Dec 21;66(12):760-767. English. doi: 10.51620/0869-2084-2021-66-12-760-767.
    • Review
    • Prevalence of germline TP53 mutation among early onset middle eastern breast cancer patients.
    • Siraj AK, Masoodi T, Bu R, Parvathareddy SK, Iqbal K, Azam S, Al-Rasheed M, Ajarim D, Tulbah A, Al-Dayel F, Al-Kuraya KS.
    • Hered Cancer Clin Pract. 2021 Dec 14;19(1):49. doi: 10.1186/s13053-021-00206-w.
    • Frequency of Mismatch Repair Deficiency/High Microsatellite Instability and Its Role as a Predictive Biomarker of response to Immune Checkpoint Inhibitors in Gynecologic Cancers.
    • Noh JJ, Kim MK, Choi MC, Lee JW, Park H, Jung SG, Joo WD, Song SH, Lee C.
    • Cancer Res Treat. 2021 Dec 13. doi: 10.4143/crt.2021.828. Epub ahead of print.
    • Germline Pathogenic Variants in Cancer Predisposition Genes Among Women With Invasive Lobular Carcinoma of the Breast.
    • Yadav S, Hu C, Nathanson KL, Weitzel JN, Goldgar DE, Kraft P, Gnanaolivu RD, Na J, Huang H, Boddicker NJ, Larson N, Gao C, Yao S, Weinberg C, Vachon CM, Trentham-Dietz A, Taylor JA, Sandler DR, Patel A, Palmer JR, Olson JE, Neuhausen S, Martinez E, Lindstrom S, Lacey JV, Kurian AW, John EM, Haiman C, Bernstein L, Auer PW, Anton-Culver H, Ambrosone CB, Karam R, Chao E, Yussuf A, Pesaran T, Dolinsky JS, Hart SN, LaDuca H, Polley EC, Domchek SM, Couch FJ.
    • J Clin Oncol. 2021 Dec 10;39(35):3918-3926. doi: 10.1200/JCO.21.00640. Epub 2021 Oct 21.
    • Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.
    • Southey MC, Dowty JG, Riaz M, Steen JA, Renault AL, Tucker K, Kirk J, James P, Winship I, Pachter N, Poplawski N, Grist S, Park DJ, Pope BJ, Mahmood K, Hammet F, Mahmoodi M, Tsimiklis H, Theys D, Rewse A, Willis A, Morrow A, Speechly C, Harris R, Sebra R, Schadt E, Lacaze P, McNeil JJ, Giles GG, Milne RL, Hopper JL, Nguyen-Dumont T.
    • NPJ Breast Cancer. 2021 Dec 9;7(1):153. doi: 10.1038/s41523-021-00360-3.
    • Inference of tissue relative proportions of the breast epithelial cell types luminal progenitor, basal, and luminal mature.
    • Sci Rep. 2021 Dec 8;11(1):23702. doi: 10.1038/s41598-021-03161-7.
    • New insights into c.815_824dup pathogenic variant of BRCA1 in inherited breast cancer: a founder mutation of West African origin.
    • Diop JPD, Sene ARG, Dia Y, Ba SA, Ly CAT, Sarr PD, Mbacke SS, Diouf DG, Ka S, Mbengue B, Gueye SM, Diop PS, Sylla Niang MD, Gueye PM, Sall PL, Dem A, Cisse A, Dieye A, Ndiaye R.
    • Front Oncol. 2021 Dec 7;10:810060. doi: 10.3389/fonc.2021.810060.
    • Healthy lifestyle, genetic risk, and incidence of cancer: A prospective cohort study of 13 cancer types.
    • Byrne S, Boyle T, Ahmed M, Lee SH, Benyamin B, Hyppönen E.
    • medRxiv. 2021 Dec 7. doi: 10.1101/2021.12.07.21267341. Unpublished preprint.

    News: Lifestyle Choices Can Influence Genetic Risks for Cancer. (Medscape Oncology)

    • Absence of Glutathione S-Transferase Theta 1 Gene Is Significantly Associated With Breast Cancer Susceptibility in Pakistani Population and Poor Overall Survival in Breast Cancer Patients: A Case-Control and Case Series Analysis.
    • Ajaz S, Zaidi SE, Ali SM, Siddiqa A, Memon MA, Firasat S, Abid A, Khaliq S.
    • Front Oncol. 2021 Dec 6;11:678705. doi: 10.3389/fonc.2021.678705.
    • Impact of the APOBEC3A/B deletion polymorphism on risk of ovarian cancer.
    • Gansmo LB, Sofiyeva N, Bjørnslett M, Romundstad P, Hveem K, Vatten L, Dørum A, Lønning PE, Knappskog S.
    • Sci Rep. 2021 Dec 6;11(1):23463. doi: 10.1038/s41598-021-02820-z.
    • A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene.
    • Fierheller CT, Guitton-Sert L, Alenezi WM, Revil T, Oros KK, Gao Y, Bedard K, Arcand SL, Serruya C, Behl S, Meunier L, Fleury H, Fewings E, Subramanian DN, Nadaf J, Bruce JP, Bell R, Provencher D, Foulkes WD, El Haffaf Z, Mes-Masson AM, Majewski J, Pugh TJ, Tischkowitz M, James PA, Campbell IG, Greenwood CMT, Ragoussis J, Masson JY, Tonin PN.
    • Genome Med. 2021 Dec 3;13(1):186. doi: 10.1186/s13073-021-00998-5.
    • Germline breast cancer susceptibility genes, tumor characteristics, and survival.
    • Ho PJ, Khng AJ, Loh HW, Ho WK, Yip CH, Mohd-Taib NA, Tan VKM, Tan BK, Tan SM, Tan EY, Lim SH, Jamaris S, Sim Y, Wong FY, Ngeow J, Lim EH, Tai MC, Wijaya EA, Lee SC, Chan CW, Buhari SA, Chan PMY, Chen JJC, Seah JCM, Lee WP, Mok CW, Lim GH, Woo E, Kim SW, Lee JW, Lee MH, Park SK, Dunning AM, Easton DF, Schmidt MK, Teo SH, Li J, Hartman M.
    • Genome Med. 2021 Dec 2;13(1):185. doi: 10.1186/s13073-021-00978-9.
    • Ovarian Cancer-Specific BRCA-like Copy-Number Aberration Classifiers Detect Mutations Associated with Homologous Recombination Deficiency in the AGO-TR1 Trial.
    • Schouten PC, Richters L, Vis DJ, Kommoss S, van Dijk E, Ernst C, Kluin RJC, Marmé F, Lips EH, Schmidt S, Scheerman E, Prieske K, van Deurzen CHM, Burges A, Ewing-Graham PC, Dietrich D, Jager A, de Gregorio N, Hauke J, du Bois A, Nederlof PM, Wessels LF, Hahnen E, Harter P, Linn SC, Schmutzler RK.
    • Clin Cancer Res. 2021 Dec 1;27(23):6559-6569. doi: 10.1158/1078-0432.CCR-21-1673. Epub 2021 Sep 30.
    • Familial Breast Cancer: Disease Related Gene Mutations and Screening Strategies for Chinese Population.
    • Shen L, Zhang S, Wang K, Wang X.
    • Front Oncol. 2021 Dec 1;11:740227. doi: 10.3389/fonc.2021.740227.

    Commentary:

    Editorial: Familial Cancer in China: From Detection to Screening and Management.

    • CRISPR-Cas9/long-read sequencing approach to identify cryptic mutations in BRCA1 and other tumour suppressor genes.
    • Walsh T, Casadei S, Munson KM, Eng M, Mandell JB, Gulsuner S, King MC.
    • J Med Genet. 2021 Dec;58(12):850-852. doi: 10.1136/jmedgenet-2020-107320. Epub 2020 Oct 15.
    • Implementing gene curation for hereditary cancer susceptibility in Australia: achieving consensus on genes with clinical utility.
    • Tudini E, Davidson AL, Dressel U, Andrews L, Antill Y, Crook A, Field M, Gattas M, Harris R, Kirk J, Pachter N, Salmon L, Susman R, Townshend S, Trainer AH, Tucker KM, Mitchell G, James PA, Ward RL, Mar Fan H, Poplawski NK, Spurdle AB.
    • J Med Genet. 2021 Dec;58(12):853-858. doi: 10.1136/jmedgenet-2020-107140. Epub 2020 Nov 9.
    • Germline mutations in RAD51C and RAD51D and hereditary predisposition to ovarian cancer.
    • Jana S, Klára L, Markéta J, Petra K, Michal V, Lenka F, Michal Z, Zdenek K.
    • Klin Onkol. 2021 Winter;34(1):26-32. English. doi: 10.48095/ccko202126.
    • Genetic heterogeneity during breast cancer progression in young patients.
    • Hagio K, Hatanaka KC, Amano T, Matsuno Y, Hatanaka Y, Yamashita H.
    • Breast. 2021 Dec;60:206-213. doi: 10.1016/j.breast.2021.10.011. Epub 2021 Oct 28.
    • Pathogenicity of VHL variants in families with non-syndromic von Hippel-Lindau phenotypes: An integrated evaluation of germline and somatic genomic results.
    • Rana HQ, Koeller DR, Schwartz A, Manning DK, Schneider KA, Krajewski KM, Choueiri TK, Lindeman NI, Garber JE, Ghazani AA.
    • Eur J Med Genet. 2021 Dec;64(12):104359. doi: 10.1016/j.ejmg.2021.104359. Epub 2021 Oct 8.
    • Somatic mosaics in hereditary tumor predisposition syndromes.
    • Steinke-Lange V, de Putter R, Holinski-Feder E, Claes KB.
    • Eur J Med Genet. 2021 Dec;64(12):104360. doi: 10.1016/j.ejmg.2021.104360. Epub 2021 Oct 13.
    • Concurrent pathogenic variations in patients with hereditary cancer syndromes.
    • Agaoglu NB, Doganay L.
    • Eur J Med Genet. 2021 Dec;64(12):104366. doi: 10.1016/j.ejmg.2021.104366. Epub 2021 Oct 9.
    • Characterization of patients with long-term responses to rucaparib treatment in recurrent ovarian cancer.
    • Swisher EM, Kristeleit RS, Oza AM, Tinker AV, Ray-Coquard I, Oaknin A, Coleman RL, Burris HA, Aghajanian C, O'Malley DM, Leary A, Welch S, Provencher D, Shapiro GI, Chen LM, Shapira-Frommer R, Kaufmann SH, Goble S, Maloney L, Kwan T, Lin KK, McNeish IA.
    • Gynecol Oncol. 2021 Dec;163(3):490-497. doi: 10.1016/j.ygyno.2021.08.030. Epub 2021 Sep 30.
    • Efficacy of systemic therapies in men with metastatic castration resistant prostate cancer harboring germline ATM versus BRCA2 mutations.
    • Sokolova AO, Marshall CH, Lozano R, Gulati R, Ledet EM, De Sarkar N, Grivas P, Higano CS, Montgomery B, Nelson PS, Olmos D, Sokolov V, Schweizer MT, Yezefski TA, Yu EY, Paller CJ, Sartor O, Castro E, Antonarakis ES, Cheng HH.
    • Prostate. 2021 Dec;81(16):1382-1389. doi: 10.1002/pros.24236. Epub 2021 Sep 13.
    • Epigenetic Dysregulation of KCNK9 Imprinting and Triple-Negative Breast Cancer.
    • Skaar DA, Dietze EC, Alva-Ornelas JA, Ann D, Schones DE, Hyslop T, Sistrunk C, Zalles C, Ambrose A, Kennedy K, Idassi O, Miranda Carboni G, Gould MN, Jirtle RL, Seewaldt VL.
    • Cancers (Basel). 2021 Nov 30;13(23):6031. doi: 10.3390/cancers13236031.
    • Characteristics of Germline Non-BRCA Mutation Status of High-Risk Breast Cancer Patients in China and Correlation with High-Risk Factors and Multigene Testing Suggestions.
    • Su Y, Yao Q, Xu Y, Yu C, Zhang J, Wang Q, Li J, Shi D, Yu B, Zeng Y, Zhu X, Bai Q, Zhou X.
    • Front Genet. 2021 Nov 30;12:674094. doi: 10.3389/fgene.2021.674094.
    • Update on Poly ADP-Ribose Polymerase Inhibitors in Ovarian Cancer With Non-BRCA Mutations.
    • Xu Q, Li Z.
    • Front Pharmacol. 2021 Nov 29;12:743073. doi: 10.3389/fphar.2021.743073.
    • Genetic Testing Challenges in Oncology: No Follow-up on Insurer Denial Delays Cancer Risk Management.
    • Ray T.
    • Precision Oncology News. Cancer Specialties. Breast Cancer. 2021 Nov 29.
    • Retroperitoneal leiomyosarcoma in a female patient with a germline splicing variant RAD51D c.904-2A > T: a case report.
    • Futagawa M, Yamamoto H, Kochi M, Urakawa Y, Sogawa R, Kato F, Okazawa-Sakai M, Ennishi D, Shinozaki K, Inoue H, Yanai H, Hirasawa A.
    • Hered Cancer Clin Pract. 2021 Nov 27;19(1):48. doi: 10.1186/s13053-021-00205-x.
    • RNA assay identifies a previous misclassification of BARD1 c.1977A>G variant.
    • Rofes P, Pineda M, Feliubadaló L, Menéndez M, de Cid R, Gómez C, Montes E, Capellá G, Brunet J, Del Valle J, Lázaro C.
    • Sci Rep. 2021 Nov 25;11(1):22948. doi: 10.1038/s41598-021-02465-y.
    • A Case of Triple-Negative Breast Cancer with Germline Pathogenic Variants in Both BRCA1 and BRCA2.
    • Kitahara M, Hozumi Y, Machinaga M, Hayashi Y.
    • Case Rep Oncol. 2021 Nov 18;14(3):1645-1651. doi: 10.1159/000520148.
    • Double heterozygous pathogenic variants in the BRCA1 and BRCA2 genes in a patient with bilateral metachronous breast cancer.
    • Mampel A, Sottile ML, Denita-Juárez SP, Vargas AL, Vargas-Roig LM.
    • Cancer Genet. 2021 Nov 10;260-261:14-17. doi: 10.1016/j.cancergen.2021.11.003. Epub ahead of print.
    • Case report
    • A Review of Breast Cancer Risk Factors in Adolescents and Young Adults.
    • McVeigh UM, Tepper JW, McVeigh TP.
    • Cancers (Basel). 2021 Nov 5;13(21):5552. doi: 10.3390/cancers13215552.
    • Breast Irradiation is Well Tolerated in Carriers of a Pathogenic ATM Variant.
    • Zureick AH, Zakalik D, Rangarajan TS, Quinn TJ, Chen PY, Dilworth JT.
    • Int J Radiat Oncol Biol Phys. 2021 Nov 1;111(3S):e227. doi: 10.1016/j.ijrobp.2021.07.780.
    • Genotype-cancer association in patients with Fanconi anemia due to pathogenic variants in FANCD1 (BRCA2) or FANCN (PALB2).
    • McReynolds LJ, Biswas K, Giri N, Sharan SK, Alter BP.
    • Cancer Genet. 2021 Nov;258-259:101-109. doi: 10.1016/j.cancergen.2021.10.001. Epub 2021 Oct 4.
    • Breast cancer characteristics and surgery among women with Li-Fraumeni syndrome in Germany-A retrospective cohort study.
    • Rippinger N, Fischer C, Sinn HP, Dikow N, Sutter C, Rhiem K, Grill S, Cremer FW, Nguyen HP, Ditsch N, Kast K, Hettmer S, Kratz CP, Schott S.
    • Cancer Med. 2021 Nov;10(21):7747-7758. doi: 10.1002/cam4.4300. Epub 2021 Sep 26.
    • Discordant Reporting of a Previously Undescribed Pathogenic Germline BRCA2 Variant in Blood and Tumor Tissue in a Patient With Pancreatic Adenocarcinoma.
    • Kordes M, Tamborero D, Lagerstedt-Robinson K, Yachnin J, Rosenquist R, Löhr JM, Gustafsson Liljefors M.
    • JCO Precis Oncol. 2021 Nov;5:974-980. doi: 10.1200/PO.21.00024.
    • Rapid Breakpoint Mapping of a Novel Germline PALB2 Duplication by PCR-Free Long-Read Sequencing for Interpretation of Its Pathogenicity.
    • Kwong A, Au CH, Shin VY, Ho DN, Wong EYL, Ho CYS, Chung Y, Chan TL, Ma ESK.
    • JCO Precis Oncol. 2021 Nov;5:1044-1047. doi: 10.1200/PO.20.00454.
    • Case report
    • Germline PALB2 Variants and PARP Inhibitors in Endometrial Cancer.
    • Cilento MA, Poplawski NK, Paramasivam S, Thomas DM, Kichenadasse G.
    • J Natl Compr Canc Netw. 2021 Nov;19(11):1212-1217. doi: 10.6004/jnccn.2021.7067.
    • Detection of hypermethylation BRCA1/2 gene promoter in breast tumours among Moroccan women.
    • Saif I, Bouziyane A, Benhessou M, Karroumi ME, Ennaji MM.
    • Mol Biol Rep. 2021 Nov;48(11):7147-7152. doi: 10.1007/s11033-021-06705-2. Epub 2021 Sep 30.
    • Do BARD1 Mutations Confer an Elevated Risk of Prostate Cancer?
    • Stempa K, Wokolorczyk D, Kluzniak W, Rogoza-Janiszewska E, Malinska K, Rudnicka H, Huzarski T, Gronwald J, Gliniewicz K, Debniak T, Jakubowska A, Lener M, Tomiczek-Szwiec J, Domagala P, Suszynska M, Kozlowski P, Kluz T, Naczk M, Lubinski J, Narod SA, Akbari MR, Cybulski C, On Behalf Of The Polish Hereditary Prostate Cancer Consortium.
    • Cancers (Basel). 2021 Oct 30;13(21):5464. doi: 10.3390/cancers13215464.
    • Identification and Characterization of New Alu Element Insertion in the BRCA1 Exon 14 Associated with Hereditary Breast and Ovarian Cancer.
    • Bouras A, Leone M, Bonadona V, Lebrun M, Calender A, Boutry-Kryza N.
    • Genes (Basel). 2021 Oct 29;12(11):1736. doi: 10.3390/genes12111736.
    • Homologous recombination proficiency in ovarian and breast cancer patients.
    • Creeden JF, Nanavaty NS, Einloth KR, Gillman CE, Stanbery L, Hamouda DM, Dworkin L, Nemunaitis J.
    • BMC Cancer. 2021 Oct 28;21(1):1154. doi: 10.1186/s12885-021-08863-9.
    • Prevalence of Cancer in Acid Sphingomyelinase Deficiency.
    • Mauhin W, Levade T, Vanier MT, Froissart R, Lidove O.
    • J Clin Med. 2021 Oct 28;10(21):5029. doi: 10.3390/jcm10215029.
    • Genetic Testing Challenges in Oncology: Same Multigene Cancer Risk Panel Not Right for All.
    • Ray T.
    • Precision Oncology News. Biomarkers. BRCA. 2021 Oct 28.
    • Genetic polymorphisms and promoter methylation of miR-9-3 in the modulation of breast cancer risk in a Chinese population.
    • Pan G, Luo Z, Tang R.
    • Clin Breast Cancer. 2021 Oct 23:S1526-8209(21)00299-8. doi: 10.1016/j.clbc.2021.10.010. Epub ahead of print.
    • Peutz-Jeghers Syndrome and the Role of Imaging: Pathophysiology, Diagnosis, and Associated Cancers.
    • Klimkowski S, Ibrahim M, Ibarra Rovira JJ, Elshikh M, Javadi S, Klekers AR, Abusaif AA, Moawad AW, Ali K, Elsayes KM.
    • Cancers (Basel). 2021 Oct 13;13(20):5121. doi: 10.3390/cancers13205121.
    • Association Between Hereditary Lobular Breast Cancer Due to CDH1 Variants and Gastric Cancer Risk.
    • Gamble LA, Rossi A, Fasaye GA, Kesserwan C, Hernandez JM, Blakely AM, Davis JL.
    • JAMA Surg. 2021 Oct 13. doi: 10.1001/jamasurg.2021.5118. Epub ahead of print.
    • Germline RAD51B variants confer susceptibility to breast and ovarian cancers deficient in homologous recombination.
    • Setton J, Selenica P, Mukherjee S, Shah R, Pecorari I, McMillan B, Pei IX, Kemel Y, Ceyhan-Birsoy O, Sheehan M, Tkachuk K, Brown DN, Zhang L, Cadoo K, Powell S, Weigelt B, Robson M, Riaz N, Offit K, Reis-Filho JS, Mandelker D.
    • NPJ Breast Cancer. 2021 Oct 11;7(1):135. doi: 10.1038/s41523-021-00339-0.
    • Germline variants and breast cancer survival in patients with distant metastases at primary breast cancer diagnosis.
    • Escala-Garcia M, Canisius S, Keeman R, Beesley J, Anton-Culver H, Arndt V, Augustinsson A, Becher H, Beckmann MW, Behrens S, Bermisheva M, Bojesen SE, Bolla MK, Brenner H, Canzian F, Castelao JE, Chang-Claude J, Chanock SJ, Couch FJ, Czene K, Daly MB, Dennis J, Devilee P, Dörk T, Dunning AM, Easton DF, Ekici AB, Eliassen AH, Fasching PA, Flyger H, Gago-Dominguez M, García-Closas M, García-Sáenz JA, Geisler J, Giles GG, Grip M, Gündert M, Hahnen E, Haiman CA, Håkansson N, Hall P, Hamann U, Hartikainen JM, Heemskerk-Gerritsen BAM, Hollestelle A, Hoppe R, Hopper JL, Hunter DJ, Jacot W, Jakubowska A, John EM, Jung AY, Kaaks R, Khusnutdinova E, Koppert LB, Kraft P, Kristensen VN, Kurian AW, Lambrechts D, Le Marchand L, Lindblom A, Luben RN, Lubinski J, Mannermaa A, Manoochehri M, Margolin S, Mavroudis D, Muranen TA, Nevanlinna H, Olshan AF, Olsson H, Park-Simon TW, Patel AV, Peterlongo P, Pharoah PDP, Punie K, Radice P, Rennert G, Rennert HS, Romero A, Roylance R, Rüdiger T, Ruebner M, Saloustros E, Sawyer EJ, Schmutzler RK, Schoemaker MJ, Scott C, Southey MC, Surowy H, Swerdlow AJ, Tamimi RM, Teras LR, Thomas E, Tomlinson I, Troester MA, Vachon CM, Wang Q, Winqvist R, Wolk A, Ziogas A; kConFab/AOCS Investigators, Michailidou K, Chenevix-Trench G, Bachelot T, Schmidt MK.
    • Sci Rep. 2021 Oct 5;11(1):19787. doi: 10.1038/s41598-021-99409-3.
    • Racial and Ethnic Differences in Multigene Hereditary Cancer Panel Test Results for Women With Breast Cancer.
    • Yadav S, LaDuca H, Polley EC, Hu C, Niguidula N, Shimelis H, Lilyquist J, Na J, Lee KY, Gutierrez S, Yussuf A, Hart SN, Davis BT, Chao EC, Pesaran T, Goldgar DE, Dolinsky JS, Couch FJ.
    • J Natl Cancer Inst. 2021 Oct 1;113(10):1429-1433. doi: 10.1093/jnci/djaa167.
    • Association of Novel Single Nucleotide Polymorphisms of Genes Involved in Cell Functions with Male Infertility: A Study of Male Cases in Northwest Iran.
    • Ghadirkhomi E, Angaji SA, Khosravi M, Mashayekhi MR.
    • J Reprod Infertil. 2021 Oct-Dec;22(4):258-266. doi: 10.18502/jri.v22i4.7651.
    • A Genetic Variant of the BTLA Gene is Related to Increased Risk and Clinical Manifestations of Breast Cancer in Chinese Women.
    • Zhao RP, Li Z, Li C, Xu K, Zhen LL, Song W, Shi JH.
    • Clin Breast Cancer. 2021 Oct;21(5):e512-e517. doi: 10.1016/j.clbc.2020.12.009. Epub 2020 Dec 28.
    • CASC15 Polymorphisms are Correlated With Breast Cancer Susceptibility in Chinese Han Women.
    • Chen P, Chen R, Guo H, Cheng J, Zhang R, Liu B, Pang J, Cao W.
    • Clin Breast Cancer. 2021 Oct;21(5):e518-e525. doi: 10.1016/j.clbc.2021.01.005. Epub 2021 Jan 6.
    • BRCA1 Reversion Mutation Confers Resistance to Olaparib and Camrelizumab in a Patient with Breast Cancer Liver Metastasis.
    • Pan JN, Lei L, Ye WW, Wang XJ, Cao WM.
    • J Breast Cancer. 2021 Oct;24(5):474-480. doi: 10.4048/jbc.2021.24.e39. Epub 2021 Sep 7.
    • Assessment of mismatch repair deficiency in ovarian cancer.
    • Crosbie EJ, Ryan NAJ, McVey RJ, Lalloo F, Bowers N, Green K, Woodward ER, Clancy T, Bolton J, Wallace AJ, McMahon RF, Evans DG.
    • J Med Genet. 2021 Oct;58(10):687-691. doi: 10.1136/jmedgenet-2020-107270. Epub 2020 Sep 11.
    • Peripheral Blood BRCA1 Methylation Positively Correlates with Major Alzheimer's Disease Risk Factors.
    • Mano T, Sato K, Ikeuchi T, Toda T, Iwatsubo T, Iwata A.
    • J Prev Alzheimers Dis. 2021 [Oct];8(4):477-482. doi: 10.14283/jpad.2021.31.
    • Commentary: Mismatch Repair Deficiency and Microsatellite Instability in Triple-Negative Breast Cancer: A Retrospective Study of 440 Patients.
    • Venetis K, Fusco N, Sajjadi E.
    • Front Oncol. 2021 Sep 29;11:735476. doi: 10.3389/fonc.2021.735476.

    Original research:

    Mismatch Repair Deficiency and Microsatellite Instability in Triple-Negative Breast Cancer: A Retrospective Study of 440 Patients.

    • Protein truncating variants in FANCM and risk for ER-negative/triple negative breast cancer.
    • Peterlongo P, Figlioli G, Deans AJ, Couch FJ.
    • NPJ Breast Cancer. 2021 Sep 28;7(1):130. doi: 10.1038/s41523-021-00338-1.
    • Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.
    • Reza MN, Ferdous N, Emon MTH, Islam MS, Mohiuddin AKM, Hossain MU.
    • Sci Rep. 2021 Sep 28;11(1):19264. doi: 10.1038/s41598-021-98547-y.
    • Fanconi Anaemia, Childhood Cancer and the BRCA Genes.
    • Woodward ER, Meyer S.
    • Genes (Basel). 2021 Sep 27;12(10):1520. doi: 10.3390/genes12101520.
    • Breast radiotherapy-related treatment outcomes in patients with or without germline mutations on multigene panel testing.
    • Chapman BV, Liu D, Shen Y, Olamigoke OO, Lakomy DS, Barrera AMG, Stecklein SR, Sawakuchi GO, Bright SJ, Bedrosian I, Litton JK, Smith BD, Woodward WA, Perkins GH, Hoffman KE, Stauder MC, Strom EA, Arun BK, Shaitelman SF.
    • Int J Radiat Oncol Biol Phys. 2021 Sep 25:S0360-3016(21)02830-3. doi: 10.1016/j.ijrobp.2021.09.026. Epub ahead of print.
    • The Importance of Extended Analysis Using Current Molecular Genetic Methods Based on the Example of a Cohort of 228 Patients with Hereditary Breast and Ovarian Cancer Syndrome.
    • Resch LD, Hotz A, Zimmer AD, Komlosi K, Singh N, Tzschach A, Windfuhr-Blum M, Juhasz-Boess I, Erbes T, Fischer J, Alter S.
    • Genes (Basel). 2021 Sep 24;12(10):1483. doi: 10.3390/genes12101483.
    • Case report: Antenatal diagnostic of a polymalformative syndrome due to biallelic BRCA2 mutations.
    • Anquetil A, Khung Savatovsky S, Gavard L, Bazin A, Guimiot F, Dubourg C, Mandelbrot L, Picone O.
    • Clin Case Rep. 2021 Sep 22;9(9):e04838. doi: 10.1002/ccr3.4838.
    • Identification of a novel pathogenic variant in PALB2 and BARD1 genes by a multigene sequencing panel in triple negative breast cancer in Morocco.
    • Laraqui A, Cavaillé M, Uhrhammer N, ElBiad O, Bidet Y, El Rhaffouli H, El Anaz H, Rahali DM, Kouach J, Guelzim K, Badaoui B, AlBouzidi A, Oukabli M, Tanz R, Sbitti Y, Ichou M, Ennibi K, Sekhsokh Y, Bignon YJ.
    • J Genomics. 2021 Sep 18;9:43-54. doi: 10.7150/jgen.61713.
    • Homozygous Germline APC p.I1307K Variants: A Case Series.
    • Rosenblum A, Springer M, Eppolito A, Axell L, Mohler L.
    • Case Rep Oncol. 2021 Sep 14;14(3):1295-1303. doi: 10.1159/000518683.
    • Genetic variations of DNA bindings of FOXA1 and co-factors in breast cancer susceptibility.
    • Wen W, Chen Z, Bao J, Long Q, Shu XO, Zheng W, Guo X.
    • Nat Commun. 2021 Sep 13;12(1):5318. doi: 10.1038/s41467-021-25670-9.
    • Genomic Determinants of Homologous Recombination Deficiency across Human Cancers.
    • Qing T, Wang X, Jun T, Ding L, Pusztai L, Huang KL.
    • Cancers (Basel). 2021 Sep 12;13(18):4572. doi: 10.3390/cancers13184572.
    • Circadian PERformance in breast cancer: a germline and somatic genetic study of PER3VNTR polymorphisms and gene co-expression.
    • Fores-Martos J, Cervera-Vidal R, Sierra-Roca J, Lozano-Asencio C, Fedele V, Cornelissen S, Edvarsen H, Tadeo-Cervera I, Eroles P, Lluch A, Tabares-Seisdedos R, Falcó A, Van't Veer LJ, Schmidt M, Quigley DA, Børresen-Dale AL, Kristensen VN, Balmain A, Climent J.
    • NPJ Breast Cancer. 2021 Sep 10;7(1):118. doi: 10.1038/s41523-021-00329-2.
    • Clinical consequences of BRCA2 hypomorphism.
    • Castells-Roca L, Gutiérrez-Enríquez S, Bonache S, Bogliolo M, Carrasco E, Aza-Carmona M, Montalban G, Muñoz-Subirana N, Pujol R, Cruz C, Llop-Guevara A, Ramírez MJ, Saura C, Lasa A, Serra V, Diez O, Balmaña J, Surrallés J.
    • NPJ Breast Cancer. 2021 Sep 9;7(1):117. doi: 10.1038/s41523-021-00322-9.
    • The prevalence of ataxia telangiectasia mutated (ATM) variants in patients with breast cancer patients: a systematic review and meta-analysis.
    • Moslemi M, Vafaei M, Khani P, Soheili M, Nedaeinia R, Manian M, Moradi Y, Sohrabi E.
    • Cancer Cell Int. 2021 Sep 8;21(1):474. doi: 10.1186/s12935-021-02172-8.
    • Germline Genetic Testing for Women With Breast Cancer: Shifting the Paradigm From Whom to Test to Whom NOT to Test.
    • Tung N, Desai N.
    • J Clin Oncol. 2021 Sep 7:JCO2101761. doi: 10.1200/JCO.21.01761. Epub ahead of print.

    Original research:

    Risk of Late-Onset Breast Cancer in Genetically Predisposed Women.

    • Biological Role and Clinical Implications of microRNAs in BRCA Mutation Carriers.
    • Tommasi C, Pellegrino B, Boggiani D, Sikokis A, Michiara M, Uliana V, Bortesi B, Bonatti F, Mozzoni P, Pinelli S, Squadrilli A, Viani MV, Cassi D, Maglietta G, Meleti M, Musolino A.
    • Front Oncol. 2021 Sep 6;11:700853. doi: 10.3389/fonc.2021.700853.
    • A polygenic-score-based approach for identification of gene-drug interactions stratifying breast cancer risk.
    • Marderstein AR, Kulm S, Peng C, Tamimi R, Clark AG, Elemento O.
    • Am J Hum Genet. 2021 Sep 2;108(9):1752-1764. doi: 10.1016/j.ajhg.2021.07.008. Epub 2021 Aug 6.

    News: Breast Cancer Genetic Risk Modified by Corticosteroid Use. (GenomeWeb)

    • Maximizing cancer prevention through genetic navigation for Lynch syndrome detection in women with newly diagnosed endometrial and nonserous/nonmucinous epithelial ovarian cancer.
    • Kim SR, Tone A, Kim RH, Cesari M, Clarke BA, Eiriksson L, Hart TL, Aronson M, Holter S, Lytwyn A, Maganti M, Oldfield L, Gallinger S, Bernardini MQ, Oza AM, Djordjevic B, Lerner-Ellis J, Van de Laar E, Vicus D, Pugh TJ, Pollett A, Ferguson SE.
    • Cancer. 2021 Sep 1;127(17):3082-3091. doi: 10.1002/cncr.33625. Epub 2021 May 13.
  1. Original research:

    Evaluation of Germline Genetic Testing Criteria in a Hospital-Based Series of Women With Breast Cancer.

    • Cost-effectiveness Analysis of Genotype-Specific Surveillance and Preventive Strategies for Gynecologic Cancers Among Women With Lynch Syndrome.
    • Wright JD, Silver ER, Tan SX, Hur C, Kastrinos F.
    • JAMA Netw Open. 2021 Sep 1;4(9):e2123616. doi: 10.1001/jamanetworkopen.2021.23616.

    Commentary:

    Exploring Gene-Specific Guidelines for Risk Management of Gynecological Cancer in Lynch Syndrome

    • Identification of a Locus Near ULK1 Associated With Progression-Free Survival in Ovarian Cancer.
    • Quinn MCJ, McCue K, Shi W, Johnatty SE, Beesley J, Civitarese A, O'Mara TA, Glubb DM, Tyrer JP, Armasu SM, Ong JS, Gharahkhani P, Lu Y, Gao B, Patch AM, Fasching PA, Beckmann MW, Lambrechts D, Vergote I, Velez Edwards DR, Beeghly-Fadiel A, Benitez J, Garcia MJ, Goodman MT, Dörk T, Dürst M, Modugno F, Moysich K, du Bois A, Pfisterer J, Bauman K, Karlan BY, Lester J, Cunningham JM, Larson MC, McCauley BM, Kjaer SK, Jensen A, Hogdall CK, Hogdall E, Schildkraut JM, Riggan MJ, Berchuck A, Cramer DW, Terry KL, Bjorge L, Webb PM, Friedlander M, Pejovic T, Moffitt M, Glasspool R, May T, Ene GEV, Huntsman DG, Woo M, Carney ME, Hinsley S, Heitz F, Fereday S, Kennedy CJ, Edwards SL, Winham SJ, deFazio A, Pharoah PDP, Goode EL, MacGregor S, Chenevix-Trench G; AGO Study Group; OPAL Study Group; for Australian Ovarian Cancer Study Group.
    • Cancer Epidemiol Biomarkers Prev. 2021 Sep;30(9):1669-1680. doi: 10.1158/1055-9965.EPI-20-1817. Epub 2021 Jun 23.

    Commentary:

    Scratching Below the Ovarian Cancer GWAS Surface.

    • Lynch syndrome-associated epithelial ovarian cancer and its immunological profile.
    • Rasmussen M, Lim K, Rambech E, Andersen MH, Svane IM, Andersen O, Jensen LH, Nilbert M, Therkildsen C.
    • Gynecol Oncol. 2021 Sep;162(3):686-693. doi: 10.1016/j.ygyno.2021.07.001. Epub 2021 Jul 16.
    • The importance of Ethnicity: are breast cancer Polygenic Risk Scores ready for women who are not of white European origin?
    • Evans DG, van Veen EM, Byers H, Roberts E, Howell A, Howell SJ, Harkness EF, Brentnall A, Cuzick J, Newman WG.
    • Int J Cancer. 2021 Aug 30. doi: 10.1002/ijc.33782. Epub ahead of print.
    • Impacts of LOC105371267 Variants on Breast Cancer Susceptibility in Northern Chinese Han Females: A Population-Based Case-Control Study.
    • Peng L, Huang C, Xing S, Li D, He C, He Y, Yang W, Jin T, Wang L.
    • J Oncol. 2021 Aug 28;2021:4990695. doi: 10.1155/2021/4990695.
    • Association between single-nucleotide polymorphisms in miRNA and breast cancer risk: an updated review.
    • Arancibia T, Morales-Pison S, Maldonado E, Jara L.
    • Biol Res. 2021 Aug 28;54(1):26. doi: 10.1186/s40659-021-00349-z.
    • Discovery of structural deletions in breast cancer predisposition genes using whole genome sequencing data from > 2000 women of African-ancestry.
    • Chen Z, Guo X, Long J, Ping J, Li B, Fadden MK, Ahearn TU, Stram DO, Shu XO, Jia G, Figueroa J; Ghana Breast Health Study team, Palmer JR, Sanderson M, Haiman CA, Blot WJ, Garcia-Closas M, Cai Q, Zheng W.
    • Hum Genet. 2021 Aug 27. doi: 10.1007/s00439-021-02342-8. Epub ahead of print.
    • Current gene panels account for nearly all homologous recombination repair-associated multiple-case breast cancer families.
    • Matis TS, Zayed N, Labraki B, de Ladurantaye M, Matis TA, Camacho Valenzuela J, Hamel N, Atayan A, Rivera B, Tabach Y, Tonin PN, Orthwein A, Mes-Masson AM, El Haffaf Z, Foulkes WD, Polak P.
    • NPJ Breast Cancer. 2021 Aug 25;7(1):109. doi: 10.1038/s41523-021-00315-8.
    • Understanding the Clinical Implications of Low Penetrant Genes and Breast Cancer Risk.
    • Vaidyanathan A, Kaklamani V.
    • Curr Treat Options Oncol. 2021 Aug 23;22(10):85. doi: 10.1007/s11864-021-00887-4.
    • Review
    • Altered regulation of BRCA1 exon 11 splicing is associated with breast cancer risk in carriers of BRCA1 pathogenic variants.
    • Ruiz de Garibay G, Fernandez-Garcia I, Mazoyer S, Leme de Calais F, Ameri P, Martinez-Ruiz SH, Damiola F, Barjhoux L, Thomassen M, Andersen LVB, Herranz C, Mateo F, Palomero L, Espin R, Gómez A, García N, Jimenez D, Bonifaci N, Extremera AI, Castaño J, Raya A, Eyras E, Puente XS, Brunet J, Lázaro C, Gemo, Cimba, Radice P, Barnes DR, Antoniou AC, Spurdle AB, de la Hoya M, Baralle D, Barcellos-Hoff MH, Pujana MA.
    • Hum Mutat. 2021 Aug 22. doi: 10.1002/humu.24276. Epub ahead of print.
    • Germline PALB2 Mutation in High-Risk Chinese Breast and/or Ovarian Cancer Patients.
    • Kwong A, Shin VY, Ho CYS, Khalid A, Au CH, Chan KKL, Ngan HYS, Chan TL, Ma ESK.
    • Cancers (Basel). 2021 Aug 20;13(16):4195. doi: 10.3390/cancers13164195.
    • Cancer predisposition and germline CTNNA1 variants.
    • Lobo S, Benusiglio PR, Coulet F, Boussemart L, Golmard L, Spier I, Hüneburg R, Aretz S, Colas C, Oliveira C.
    • Eur J Med Genet. 2021 Aug 20:104316. doi: 10.1016/j.ejmg.2021.104316. Epub ahead of print.
    • Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment.
    • Morra A, Escala-Garcia M, Beesley J, Keeman R, Canisius S, Ahearn TU, Andrulis IL, Anton-Culver H, Arndt V, Auer PL, Augustinsson A, Beane Freeman LE, Becher H, Beckmann MW, Behrens S, Bojesen SE, Bolla MK, Brenner H, Brüning T, Buys SS, Caan B, Campa D, Canzian F, Castelao JE, Chang-Claude J, Chanock SJ, Cheng TD, Clarke CL; NBCS Collaborators, Colonna SV, Couch FJ, Cox A, Cross SS, Czene K, Daly MB, Dennis J, Dörk T, Dossus L, Dunning AM, Dwek M, Eccles DM, Ekici AB, Eliassen AH, Eriksson M, Evans DG, Fasching PA, Flyger H, Fritschi L, Gago-Dominguez M, García-Sáenz JA, Giles GG, Grip M, Guénel P, Gündert M, Hahnen E, Haiman CA, Håkansson N, Hall P, Hamann U, Hart SN, Hartikainen JM, Hartmann A, He W, Hooning MJ, Hoppe R, Hopper JL, Howell A, Hunter DJ; ABCTB Investigators; kConFab Investigators, Jager A, Jakubowska A, Janni W, John EM, Jung AY, Kaaks R, Keupers M, Kitahara CM, Koutros S, Kraft P, Kristensen VN, Kurian AW, Lacey JV, Lambrechts D, Le Marchand L, Lindblom A, Linet M, Luben RN, Lubinski J, Lush M, Mannermaa A, Manoochehri M, Margolin S, Martens JWM, Martinez ME, Mavroudis D, Michailidou K, Milne RL, Mulligan AM, Muranen TA, Nevanlinna H, Newman WG, Nielsen SF, Nordestgaard BG, Olshan AF, Olsson H, Orr N, Park-Simon TW, Patel AV, Peissel B, Peterlongo P, Plaseska-Karanfilska D, Prajzendanc K, Prentice R, Presneau N, Rack B, Rennert G, Rennert HS, Rhenius V, Romero A, Roylance R, Ruebner M, Saloustros E, Sawyer EJ, Schmutzler RK, Schneeweiss A, Scott C, Shah M, Smichkoska S, Southey MC, Stone J, Surowy H, Swerdlow AJ, Tamimi RM, Tapper WJ, Teras LR, Terry MB, Tollenaar RAEM, Tomlinson I, Troester MA, Truong T, Vachon CM, Wang Q, Hurson AN, Winqvist R, Wolk A, Ziogas A, Brauch H, García-Closas M, Pharoah PDP, Easton DF, Chenevix-Trench G, Schmidt MK.
    • Breast Cancer Res. 2021 Aug 18;23(1):86. doi: 10.1186/s13058-021-01450-7.
    • Gene Panel Testing for Breast Cancer Reveals Differential Effect of Prior BRCA1/2 Probability.
    • Evans DG, van Veen EM, Woodward ER, Harkness EF, Ellingford JM, Bowers NL, Wallace AJ, Howell SJ, Howell A, Lalloo F, Newman WG, Smith MJ.
    • Cancers (Basel). 2021 Aug 18;13(16):4154. doi: 10.3390/cancers13164154.
    • The Effects of Exercise Duration and Intensity on Breast Cancer-Related DNA Methylation: A Randomized Controlled Trial.
    • Gillman AS, Helmuth T, Koljack CE, Hutchison KE, Kohrt WM, Bryan AD.
    • Cancers (Basel). 2021 Aug 17;13(16):4128. doi: 10.3390/cancers13164128.
    • Body mass index and type 2 diabetes and breast cancer survival: a Mendelian randomization study.
    • Liu YS, Wu PE, Chou WC, Vikram R, Chen WT, Yang SL, Bolla MK, Wang Q, Dennis J, Chan TL, Choi JY, Hou MF, Ito H, Kang D, Kim SW, Kwong A, Matsuo K, Park SK, Shu XO, Zheng W, Dunning AM, Easton DF, Shen CY.
    • Am J Cancer Res. 2021 Aug 15;11(8):3921-3934.
    • Identification of BRCA2 Cis Double Heterozygous Breast Cancer Cases Using Whole Exome Sequencing: Phenotypic Expression and Impact on Personalized Oncology.
    • Hamdi Y, Boujemaa M, Mighri N, Mejri N, Jaidane O, Ben Nasr S, Bouaziz H, Hassouna JB, Zribi A, Berrazaga Y, Rachdi H, Daoud N, El Benna H, Labidi S, Haddaoui A, Rahal K, Benna F, Boussen H, Abdelhak S, Boubaker S.
    • Front Genet. 2021 Aug 12;12:674990. doi: 10.3389/fgene.2021.674990.
    • Utility of Homologous Recombination Deficiency Biomarkers Across Cancer Types.
    • Takamatsu S, Brown JB, Yamaguchi K, Hamanishi J, Yamanoi K, Takaya H, Kaneyasu T, Mori S, Mandai M, Matsumura N.
    • JCO Precis Oncol. 2021 Aug 11;5:PO.21.00141. doi: 10.1200/PO.21.00141.
    • CEACAM Gene Family Mutations Associated With Inherited Breast Cancer Risk - A Comparative Oncology Approach to Discovery.
    • Huskey ALW, McNeely I, Merner ND.
    • Front Genet. 2021 Aug 10;12:702889. doi: 10.3389/fgene.2021.702889.
    • Association of Genetic Testing Results with Mortality Among Women with Breast Cancer or Ovarian Cancer.
    • Kurian AW, Abrahamse P, Bondarenko I, Hamilton AS, Deapen D, Gomez SL, Morrow M, Berek JS, Hofer TP, Katz SJ, Ward KC.
    • J Natl Cancer Inst. 2021 Aug 9:djab151. doi: 10.1093/jnci/djab151. Epub ahead of print.
    • POLE, POLD1, and NTHL1: the last but not the least hereditary cancer-predisposing genes.
    • Magrin L, Fanale D, Brando C, Fiorino A, Corsini LR, Sciacchitano R, Filorizzo C, Dimino A, Russo A, Bazan V.
    • Oncogene. 2021 Aug 6. doi: 10.1038/s41388-021-01984-2. Epub ahead of print.
    • Review
    • Diagnostic chest X-rays and breast cancer risk among women with a hereditary predisposition to breast cancer unexplained by a BRCA1 or BRCA2 mutation.
    • Ribeiro Guerra M, Coignard J, Eon-Marchais S, Dondon MG, Le Gal D, Beauvallet J, Mebirouk N, Belotti M, Caron O, Gauthier-Villars M, Coupier I, Buecher B, Lortholary A, Fricker JP, Gesta P, Noguès C, Faivre L, Berthet P, Luporsi E, Delnatte C, Bonadona V, Maugard CM, Pujol P, Lasset C, Longy M, Bignon YJ, Adenis-Lavignasse C, Venat-Bouvet L, Dreyfus H, Gladieff L, Mortemousque I, Audebert-Bellanger S, Soubrier F, Giraud S, Lejeune-Dumoulin S, Limacher JM, Chiesa J, Fajac A, Floquet A, Eisinger F, Tinat J, Fert-Ferrer S, Colas C, Frebourg T, Damiola F, Barjhoux L, Cavaciuti E, Mazoyer S, Tardivon A, Lesueur F, Stoppa-Lyonnet D, Andrieu N.
    • Breast Cancer Res. 2021 Aug 3;23(1):79. doi: 10.1186/s13058-021-01456-1.
    • Generalizability of Polygenic Risk Scores for Breast Cancer Among Women With European, African, and Latinx Ancestry.
    • Liu C, Zeinomar N, Chung WK, Kiryluk K, Gharavi AG, Hripcsak G, Crew KD, Shang N, Khan A, Fasel D, Manolio TA, Jarvik GP, Rowley R, Justice AE, Rahm AK, Fullerton SM, Smoller JW, Larson EB, Crane PK, Dikilitas O, Wiesner GL, Bick AG, Terry MB, Weng C.
    • JAMA Netw Open. 2021 Aug 2;4(8):e2119084. doi: 10.1001/jamanetworkopen.2021.19084.

    Commentary:

    Polygenic Risk Scores for Breast Cancer-Can They Deliver on the Promise of Precision Medicine?

    Press: Polygenic Breast Cancer Risk Scores Strive to Overcome Racial Bias. (Medscape Medical News)

    • Genetic testing results in Slovenian male breast cancer cohort indicate the BRCA2 7806-2A > G founder variant could be associated with higher male breast cancer risk.
    • Strojnik K, Krajc M, Dragos VS, Stegel V, Novakovic S, Blatnik A.
    • Breast Cancer Res Treat. 2021 Aug;188(3):811-820. doi: 10.1007/s10549-021-06224-5. Epub 2021 Apr 23.
    • Double Heterozygous Mutations in the BRCA2 and ATM Genes: A Case Report and Review of the Literature.
    • Duzkale Teker N, Eyerci N.
    • Breast Care (Basel). 2021 Aug;16(4):412-417. doi: 10.1159/000511430. Epub 2020 Oct 29.
    • Case report
    • Impact of deleterious variants in other genes beyond BRCA1/2 detected in breast/ovarian and pancreatic cancer patients by NGS-based multi-gene panel testing: looking over the hedge.
    • Bono M, Fanale D, Incorvaia L, Cancelliere D, Fiorino A, Calò V, Dimino A, Filorizzo C, Corsini LR, Brando C, Madonia G, Cucinella A, Scalia R, Barraco N, Guadagni F, Pedone E, Badalamenti G, Russo A, Bazan V.
    • ESMO Open. 2021 Aug;6(4):100235. doi: 10.1016/j.esmoop.2021.100235. Epub 2021 Aug 7.
    • Management of individuals with germline variants in PALB2: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
    • Tischkowitz M, Balmaña J, Foulkes WD, James P, Ngeow J, Schmutzler R, Voian N, Wick MJ, Stewart DR, Pal T; ACMG Professional Practice and Guidelines Committee.
    • Genet Med. 2021 Aug;23(8):1416-1423. doi: 10.1038/s41436-021-01151-8. Epub 2021 May 11.
    • Guidelines
    • Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores.
    • Barnes DR, Silvestri V, Leslie G, McGuffog L, Dennis J, Yang X, Adlard J, Agnarsson BA, Ahmed M, Aittomäki K, Andrulis IL, Arason A, Arnold N, Auber B, Azzollini J, Balmaña J, Barkardottir RB, Barrowdale D, Barwell J, Belotti M, Benitez J, Berthet P, Boonen SE, Borg Å, Bozsik A, Brady A, Brennan P, Brewer C, Brunet J, Bucalo A, Buys SS, Caldés T, Caligo MA, Campbell I, Cassingham H, Lotte Christensen L, Cini G, Claes KBM; GEMO Study Collaborators; EMBRACE Collaborators, Cook J, Coppa A, Cortesi L, Damante G, Darder E, Davidson R, de la Hoya M, De Leeneer K, de Putter R, Del Valle J, Diez O, Chun Ding Y, Domchek SM, Donaldson A, Eason J, Eeles R, Engel C, Gareth Evans D, Feliubadaló L, Fostira F, Frone M, Frost D, Gallagher D, Gehrig A, Giraud S, Glendon G, Godwin AK, Goldgar DE, Greene MH, Gregory H, Gross E, Hahnen E, Hamann U, Hansen TVO, Hanson H, Hentschel J, Horvath J; KConFab Investigators; HEBON Investigators, Izatt L, Izquierdo A, James PA, Janavicius R, Birk Jensen U, Johannsson OT, John EM, Kramer G, Kroeldrup L, Kruse TA, Lautrup C, Lazaro C, Lesueur F, Lopez-Fernández A, Mai PL, Manoukian S, Matrai Z, Matricardi L, Maxwell KN, Mebirouk N, Meindl A, Montagna M, Monteiro AN, Morrison PJ, Muranen TA, Murray A, Nathanson KL, Neuhausen SL, Nevanlinna H, Nguyen-Dumont T, Niederacher D, Olah E, Olopade OI, Palli D, Parsons MT, Sokilde Pedersen I, Peissel B, Perez-Segura P, Peterlongo P, Petersen AH, Pinto P, Porteous ME, Pottinger C, Angel Pujana M, Radice P, Ramser J, Rantala J, Robson M, Rogers MT, Rønlund K, Rump A, María Sánchez de Abajo A, Shah PD, Sharif S, Side LE, Singer CF, Stadler Z, Steele L, Stoppa-Lyonnet D, Sutter C, Yen Tan Y, Teixeira MR, Teulé A, Thull DL, Tischkowitz M, Toland AE, Tommasi S, Toss A, Trainer AH, Tripathi V, Valentini V, van Asperen CJ, Venturelli M, Viel A, Vijai J, Walker L, Wang-Gohrke S, Wappenschmidt B, Whaite A, Zanna I, Offit K, Thomassen M, Couch FJ, Schmutzler RK, Simard J, Easton DF, Chenevix-Trench G, Antoniou AC, Ottini L; Consortium of Investigators of Modifiers of BRCA1 and BRCA2.
    • J Natl Cancer Inst. 2021 Jul 28:djab147. doi: 10.1093/jnci/djab147. Epub ahead of print.
    • Breast cancer incidence and early diagnosis in a family history risk and prevention clinic: 33-year experience in 14,311 women.
    • Evans DG, Howell SJ, Gandhi A, van Veen EM, Woodward ER, Harvey J, Barr L, Wallace A, Lalloo F, Wilson M, Hurley E, Lim Y, Maxwell AJ, Harkness EF, Howell A.
    • Breast Cancer Res Treat. 2021 Jul 26. doi: 10.1007/s10549-021-06333-1. Epub ahead of print.
    • A Novel Germline Compound Heterozygous Mutation of BRCA2 Gene Associated with Familial Peripheral Neuroblastic Tumors in Two Siblings.
    • Yang Y, Chen J, Qin H, Jin Y, Zhang L, Yang S, Wang H, Fu L, Hong E, Yu Y, Lu J, Chang Y, Ni X, Xu M, Shi T, Guo Y.
    • Front Genet. 2021 Jul 23;12:652718. doi: 10.3389/fgene.2021.652718.
    • Risk of Late-Onset Breast Cancer in Genetically Predisposed Women.
    • Boddicker NJ, Hu C, Weitzel JN, Kraft P, Nathanson KL, Goldgar DE, Na J, Huang H, Gnanaolivu RD, Larson N, Yussuf A, Yao S, Vachon CM, Trentham-Dietz A, Teras L, Taylor JA, Scott CE, Sandler DP, Pesaran T, Patel AV, Palmer JR, Ong IM, Olson JE, O'Brien K, Neuhausen S, Martinez E, Ma H, Lindstrom S, Le Marchand L, Kooperberg C, Karam R, Hunter DJ, Hodge JM, Haiman C, Gaudet MM, Gao C, LaDuca H, Lacey JV, Dolinsky JS, Chao E, Carter BD, Burnside ES, Bertrand KA, Bernstein L, Auer PW, Ambrosone C, Yadav S, Hart SN, Polley EC, Domchek SM, Couch FJ.
    • J Clin Oncol. 2021 Jul 22:JCO2100531. doi: 10.1200/JCO.21.00531. Epub ahead of print.

    Commentary, Research report:

    Germline Genetic Testing for Women With Breast Cancer: Shifting the Paradigm From Whom to Test to Whom NOT to Test.

    Press: Older Women with Breast Cancer May Benefit from Genetic Testing (Clinical OMICs)

    • TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing.
    • Lesueur F, Eon-Marchais S, Bonnet-Boissinot S, Beauvallet J, Dondon MG, Golmard L, Rouleau E, Garrec C, Martinez M, Toulas C, Nguyen TD, Brayotel F, Crivelli L, Maugard CM, Bubien V, Sevenet N, Gesta P, Chieze-Valero S, Nambot S, Goussot V, Mari V, Popovici C, Prieur F, Morin-Meschin ME, Tinat J, Lortholary A, Dreyfus H, Bidart M, Collonge-Rame MA, Mozelle-Nivoix M, Gladieff L, Giraud S, Boutry-Kryza N, Chiesa J, Denizeau P, Bignon YJ, Uhrhammer N, Cohen-Haguenauer O, Vilquin P, Mailliez A, Coupier I, Rey JM, Lacaze E, Béra O, Colas C, Coulet F, Delnatte C, Houdayer C, Lasset C, Lemonnier J, Longy M, Noguès C, Stoppa-Lyonnet D, Vaur D, Andrieu N, Caron O.
    • Cancers (Basel). 2021 Jul 21;13(15):3659. doi: 10.3390/cancers13153659.
    • Interactions Between Adiponectin-Pathway Polymorphisms and Obesity on Postmenopausal Breast Cancer Risk Among African American Women: The WHI SHARe Study.
    • Nam GE, Zhang ZF, Rao J, Zhou H, Jung SY.
    • Front Oncol. 2021 Jul 21;11:698198. doi: 10.3389/fonc.2021.698198.
    • Expanding the phenotype of E318K (c.952G > A) MITF germline mutation carriers: case series and review of the literature.
    • Oliveira LJC, Gongora ABL, Lima FAS, Canedo FSNA, Quirino CV, Pisani JP, Achatz MI, Rossi BM.
    • Hered Cancer Clin Pract. 2021 Jul 21;19(1):32. doi: 10.1186/s13053-021-00189-8.
    • Polygenic Breast Cancer Risk for Women Veterans in the Million Veteran Program.
    • Minnier J, Rajeevan N, Gao L, Park B, Pyarajan S, Spellman P, Haskell SG, Brandt CA, Luoh SW.
    • JCO Precis Oncol. 2021 Jul 21;5:PO.20.00541. doi: 10.1200/PO.20.00541.
    • A search for modifying genetic factors in CHEK2:c.1100delC breast cancer patients.
    • Wendt C, Muranen TA, Mielikäinen L, Thutkawkorapin J, Blomqvist C, Jiao X, Ehrencrona H, Tham E, Arver B, Melin B, Kuchinskaya E, Stenmark Askmalm M, Paulsson-Karlsson Y, Einbeigi Z, von Wachenfeldt Väppling A, Kalso E, Tasmuth T, Kallioniemi A, Aittomäki K, Nevanlinna H, Borg Å, Lindblom A.
    • Sci Rep. 2021 Jul 20;11(1):14763. doi: 10.1038/s41598-021-93926-x.
    • Clinicopathological characterization of a real-world multicenter cohort of endometrioid ovarian carcinoma: Analysis of the French national ESME-Unicancer database.
    • De Nonneville A, Zemmour C, Frank S, Joly F, Ray-Coquard I, Costaz H, Classe JM, Floquet A, De la Motte Rouge T, Colombo PE, Sauterey B, Leblanc E, Pomel C, Marchal F, Barranger E, Savoye AM, Guillemet C, Petit T, Pautier P, Rouzier R, Gladieff L, Simon G, Courtinard C, Sabatier R.
    • Gynecol Oncol. 2021 Jul 19:S0090-8258(21)00581-3. doi: 10.1016/j.ygyno.2021.07.019. Epub ahead of print.
    • Detection of Germline Variants in 450 Breast/Ovarian Cancer Families with a Multi-Gene Panel Including Coding and Regulatory Regions.
    • Guglielmi C, Scarpitta R, Gambino G, Conti E, Bellè F, Tancredi M, Cervelli T, Falaschi E, Cosini C, Aretini P, Congregati C, Marino M, Patruno M, Pilato B, Spina F, Balestrino L, Tenedini E, Carnevali I, Cortesi L, Tagliafico E, Tibiletti MG, Tommasi S, Ghilli M, Vivanet C, Galli A, Caligo MA.
    • Int J Mol Sci. 2021 Jul 19;22(14):7693. doi: 10.3390/ijms22147693.
    • Sequencing for germline mutations in Swedish breast cancer families reveals novel breast cancer risk genes.
    • Helgadottir HT, Thutkawkorapin J, Lagerstedt-Robinson K, Lindblom A.
    • Sci Rep. 2021 Jul 19;11(1):14737. doi: 10.1038/s41598-021-94316-z.
    • Results from London Regional Clinical Genetics services over a 5-year period on germline TP53 testing in women diagnosed with breast cancer at <30 years.
    • Garrett A, Talukdar S, Izatt L, Brady AF, Whyte S, Josephs KS, Shanmugasundaram M, Guillemot LS, Vakili D, Ey S, Ahmed M.
    • J Med Genet. 2021 Jul 15:jmedgenet-2021-107742. doi: 10.1136/jmedgenet-2021-107742. Epub ahead of print.
    • Genomic Risk Prediction for Breast Cancer in Older Women.
    • Lacaze P, Bakshi A, Riaz M, Orchard SG, Tiller J, Neumann JT, Carr PR, Joshi AD, Cao Y, Warner ET, Manning A, Nguyen-Dumont T, Southey MC, Milne RL, Ford L, Sebra R, Schadt E, Gately L, Gibbs P, Thompson BA, Macrae FA, James P, Winship I, McLean C, Zalcberg JR, Woods RL, Chan AT, Murray AM, McNeil JJ.
    • Cancers (Basel). 2021 Jul 14;13(14):3533. doi: 10.3390/cancers13143533.
    • MRN complex and cancer risk: old bottles, new wine.
    • Elkholi IE, Foulkes WD, Rivera B.
    • Clin Cancer Res. 2021 Jul 14:clincanres.1509.2021. doi: 10.1158/1078-0432.CCR-21-1509. Epub ahead of print.
    • Commentary, Review
    • Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.
    • Bhai P, Levy MA, Rooney K, Carere DA, Reilly J, Kerkhof J, Volodarsky M, Stuart A, Kadour M, Panabaker K, Schenkel LC, Lin H, Ainsworth P, Sadikovic B.
    • Front Genet. 2021 Jul 13;12:698595. doi: 10.3389/fgene.2021.698595.
    • Mutational profile of hereditary breast and ovarian cancer - Establishing genetic testing guidelines in a developing country.
    • Krivokuca A, Mihajlovic M, Susnjar S, Spasojevic IB, Minic I, Popovic L, Brankovic-Magic M.
    • Curr Probl Cancer. 2021 Jul 10:100767. doi: 10.1016/j.currproblcancer.2021.100767. Epub ahead of print.
    • Case-case analysis addressing ascertainment bias for multigene panel testing implicates BRCA1 and PALB2 in endometrial cancer.
    • Johnatty SE, Pesaran T, Dolinsky J, Yussuf A, La Duca H, James PA, Mara TAO, Spurdle AB.
    • Hum Mutat. 2021 Jul 10. doi: 10.1002/humu.24256. Epub ahead of print.
    • Genetic analysis of functional rare germline variants across 9 cancer types from an electronic health record linked biobank.
    • Shivakumar M, Miller JE, Dasari VR, Zhang Y, Lee MTM, Carey DJ, Gogoi R, Kim D.
    • Cancer Epidemiol Biomarkers Prev. 2021 Jul 8:cebp.EPI-21-0082-E.2021. doi: 10.1158/1055-9965.EPI-21-0082. Epub ahead of print.
    • Pleiotropy-guided transcriptome imputation from normal and tumor tissues identifies candidate susceptibility genes for breast and ovarian cancer.
    • Kar SP, Considine DPC, Tyrer JP, Plummer JT, Chen S, Dezem FS, Barbeira AN, Rajagopal PS, Rosenow WT, Moreno F, Bodelon C, Chang-Claude J, Chenevix-Trench G, deFazio A, Dörk T, Ekici AB, Ewing A, Fountzilas G, Goode EL, Hartman M, Heitz F, Hillemanns P, Høgdall E, Høgdall CK, Huzarski T, Jensen A, Karlan BY, Khusnutdinova E, Kiemeney LA, Kjaer SK, Klapdor R, Köbel M, Li J, Liebrich C, May T, Olsson H, Permuth JB, Peterlongo P, Radice P, Ramus SJ, Riggan MJ, Risch HA, Saloustros E, Simard J, Szafron LM, Titus L, Thompson CL, Vierkant RA, Winham SJ, Zheng W, Doherty JA, Berchuck A, Lawrenson K, Im HK, Manichaikul AW, Pharoah PDP, Gayther SA, Schildkraut JM.
    • HGG Adv. 2021 Jul 8;2(3):100042. doi: 10.1016/j.xhgg.2021.100042. Epub 2021 Jun 16.
    • Germline variants in hereditary breast cancer genes are associated with early age at diagnosis and family history in Guatemalan breast cancer.
    • Ren M, Orozco A, Shao K, Albanez A, Ortiz J, Cao B, Wang L, Barreda L, Alvarez CS, Garland L, Wu D, Chung CC, Wang J, Frone M, Ralon S, Argueta V, Orozco R, Gharzouzi E, Dean M.
    • Breast Cancer Res Treat. 2021 Jul 1. doi: 10.1007/s10549-021-06305-5. Epub ahead of print.
    • Study: Cancer risks of people with inherited PALB2 mutations.
    • [No author given]
    • FORCE. XRAY. 2021 Jul 1.

    Original research:

    Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families.

    • Male and female breast cancer: the two faces of the same genetic susceptibility coin.
    • Silva SN, Gomes BC, André S, Félix A, Rodrigues AS, Rueff J.
    • Breast Cancer Res Treat. 2021 Jul;188(1):295-305. doi: 10.1007/s10549-021-06159-x. Epub 2021 May 3.
    • Precision medicine in breast cancer: From clinical trials to clinical practice.
    • Crimini E, Repetto M, Aftimos P, Botticelli A, Marchetti P, Curigliano G.
    • Cancer Treat Rev. 2021 Jul;98:102223. doi: 10.1016/j.ctrv.2021.102223. Epub 2021 May 12.
    • Review
    • The role of TP53 pathogenic variants in early-onset HER2-positive breast cancer.
    • Escudeiro C, Pinto C, Vieira J, Peixoto A, Pinto P, Pinheiro M, Santos C, Guerra J, Lisboa S, Santos R, Silva J, Leal C, Coimbra N, Lopes P, Ferreira M, Sousa AB, Teixeira MR.
    • Fam Cancer. 2021 Jul;20(3):173-180. doi: 10.1007/s10689-020-00212-2. Epub 2020 Oct 14.
    • Olaparib as maintenance therapy and salvage therapy in recurrent ovarian cancer: The early experience in Taiwan.
    • Hsu CC, Pan YB, Lai CH, Chang TC, Yang LY, Chou HH.
    • Taiwan J Obstet Gynecol. 2021 Jul;60(4):634-638. doi: 10.1016/j.tjog.2021.05.010.
    • Lynch syndrome-associated lung cancer: pitfalls of an immunotherapy-based treatment strategy in an unusual tumor type.
    • Maccaroni E, Lenci E, Agostinelli V, Cognigni V, Giampieri R, Mazzanti P, Di Pietro Paolo M, Bianchi F, Brugiati C, Belvederesi L, Pagliaretta S, Mandolesi A, Scarpelli M, Murrone A, Morgese F, Ballatore Z, Berardi R.
    • Explor Target Antitumor Ther. 2021 [Jun 28];2(3):240-248. doi: 10.37349/etat.2021.00044. Epub 2021 Jun 28.
    • 5' Region Large Genomic Rearrangements in the BRCA1 Gene in French Families: Identification of a Tandem Triplication and Nine Distinct Deletions with Five Recurrent Breakpoints.
    • Caputo SM, Telly D, Briaux A, Sesen J, Ceppi M, Bonnet F, Bourdon V, Coulet F, Castera L, Delnatte C, Hardouin A, Mazoyer S, Schultz I, Sevenet N, Uhrhammer N, Bonnet C, Tilkin-Mariamé AF, Houdayer C, Moncoutier V, Andrieu C, French Covar Group Collaborators, Bièche I, Stern MH, Stoppa-Lyonnet D, Lidereau R, Toulas C, Rouleau E.
    • Cancers (Basel). 2021 Jun 25;13(13):3171. doi: 10.3390/cancers13133171.
    • Single nucleotide polymorphisms in HOTAIR are related to breast cancer risk and prognosis in the northeastern Chinese population.
    • Cui J, Lv Z, Kou C, Chen N, Jia L, Sun X, Gao Y, Bai R, Yang M.
    • Front Oncol. 2021 Jun 25;10:706428. doi: 10.3389/fonc.2021.706428.
    • Genetic Variants in COX2 and ALOX Genes and Breast Cancer Risk in White and Black Women.
    • Mongiovi JM, Hong CC, Zirpoli GR, Khoury T, Omilian AR, Qin B, Bandera EV, Yao S, Ambrosone CB, Gong Z.
    • Front Oncol. 2021 Jun 24;11:679998. doi: 10.3389/fonc.2021.679998.
    • Comprehensive Breast Cancer Risk Assessment for CHEK2 and ATM Pathogenic Variant Carriers Incorporating a Polygenic Risk Score and the Tyrer-Cuzick Model.
    • Gallagher S, Hughes E, Kurian AW, Domchek SM, Garber J, Probst B, Morris B, Tshiaba P, Meek S, Rosenthal E, Roa B, Slavin TP, Wagner S, Weitzel J, Gutin A, Lanchbury JS, Robson M.
    • JCO Precis Oncol. 2021 Jun 24;5:PO.20.00484. doi: 10.1200/PO.20.00484.
    • PTEN Hamartoma Tumor Syndrome/Cowden Syndrome: Genomics, Oncogenesis, and Imaging Review for Associated Lesions and Malignancy.
    • Dragoo DD, Taher A, Wong VK, Elsaiey A, Consul N, Mahmoud HS, Mujtaba B, Stanietzky N, Elsayes KM.
    • Cancers (Basel). 2021 Jun 22;13(13):3120. doi: 10.3390/cancers13133120.
    • A novel BRCA1 duplication and new insights on the spectrum and frequency of germline large genomic rearrangements in BRCA1/BRCA2.
    • Sahin I, Saat H.
    • Mol Biol Rep. 2021 Jun 19. doi: 10.1007/s11033-021-06499-3. Epub ahead of print.
    • A DNA methylation-based liquid biopsy for triple-negative breast cancer.
    • Cristall K, Bidard FC, Pierga JY, Rauh MJ, Popova T, Sebbag C, Lantz O, Stern MH, Mueller CR.
    • NPJ Precis Oncol. 2021 Jun 16;5(1):53. doi: 10.1038/s41698-021-00198-9.
    • Mutational analysis of apoptotic genes in familial aggregation of hematological malignancies.
    • Hamadou WS, Mani R, Bouali N, Besbes S, Bourdon V, El Abed R, Ben Youssef Y, Mari V, Gesta P, Dreyfus H, Bonadona V, Dugast C, Zattara H, Faivre L, Noguchi T, Khélif A, Sobol H, Soua Z.
    • Bull Cancer. 2021 Jun 14:S0007-4551(21)00207-1. doi: 10.1016/j.bulcan.2021.04.009. Epub ahead of print.
    • Association between Predicted Effects of TP53 Missense Variants on Protein Conformation and Their Phenotypic Presentation as Li-Fraumeni Syndrome or Hereditary Breast Cancer.
    • Liu Y, Axell O, van Leeuwen T, Konrat R, Kharaziha P, Larsson C, Wright APH, Bajalica-Lagercrantz S.
    • Int J Mol Sci. 2021 Jun 14;22(12):6345. doi: 10.3390/ijms22126345.
    • Prevalence and Clinicopathological Characteristics of Moderate and High-Penetrance Genes in Non-BRCA1/2 Breast Cancer High-Risk Spanish Families.
    • Fonfria M, de Juan Jiménez I, Tena I, Chirivella I, Richart-Aznar P, Segura A, Sánchez-Heras AB, Martinez-Dueñas E.
    • J Pers Med. 2021 Jun 12;11(6):548. doi: 10.3390/jpm11060548.
    • Investigation of monogenic causes of familial breast cancer: data from the BEACCON case-control study.
    • Li N, Lim BWX, Thompson ER, McInerny S, Zethoven M, Cheasley D, Rowley SM, Wong-Brown MW, Devereux L, Gorringe KL, Sloan EK, Trainer A, Scott RJ, James PA, Campbell IG.
    • NPJ Breast Cancer. 2021 Jun 11;7(1):76. doi: 10.1038/s41523-021-00279-9.
    • LRRC3B Polymorphisms Contributed to Breast Cancer Susceptibility in Chinese Han Population.
    • Wang Y.
    • Front Oncol. 2021 Jun 10;11:657168. doi: 10.3389/fonc.2021.657168.
    • The predictive ability of the 313 variant-based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant.
    • Lakeman IMM, van den Broek AJ, Vos JAM, Barnes DR, Adlard J, Andrulis IL, Arason A, Arnold N, Arun BK, Balmaña J, Barrowdale D, Benitez J, Borg A, Caldés T, Caligo MA, Chung WK, Claes KBM; GEMO Study Collaborators; EMBRACE Collaborators, Collée JM, Couch FJ, Daly MB, Dennis J, Dhawan M, Domchek SM, Eeles R, Engel C, Evans DG, Feliubadaló L, Foretova L, Friedman E, Frost D, Ganz PA, Garber J, Gayther SA, Gerdes AM, Godwin AK, Goldgar DE, Hahnen E, Hake CR, Hamann U, Hogervorst FBL, Hooning MJ, Hopper JL, Hulick PJ, Imyanitov EN; OCGN Investigators; HEBON Investigators; KconFab Investigators, Isaacs C, Izatt L, Jakubowska A, James PA, Janavicius R, Jensen UB, Jiao Y, John EM, Joseph V, Karlan BY, Kets CM, Konstantopoulou I, Kwong A, Legrand C, Leslie G, Lesueur F, Loud JT, Lubinski J, Manoukian S, McGuffog L, Miller A, Gomes DM, Montagna M, Mouret-Fourme E, Nathanson KL, Neuhausen SL, Nevanlinna H, Yie JNY, Olah E, Olopade OI, Park SK, Parsons MT, Peterlongo P, Piedmonte M, Radice P, Rantala J, Rennert G, Risch HA, Schmutzler RK, Sharma P, Simard J, Singer CF, Stadler Z, Stoppa-Lyonnet D, Sutter C, Tan YY, Teixeira MR, Teo SH, Teulé A, Thomassen M, Thull DL, Tischkowitz M, Toland AE, Tung N, van Rensburg EJ, Vega A, Wappenschmidt B, Devilee P, van Asperen CJ, Bernstein JL, Offit K, Easton DF, Rookus MA, Chenevix-Trench G, Antoniou AC, Robson M, Schmidt MK.
    • Genet Med. 2021 Jun 10. doi: 10.1038/s41436-021-01198-7. Epub ahead of print.
    • Clinical utility of testing for PALB2 and CHEK2 c.1100delC in breast and ovarian cancer.
    • Woodward ER, van Veen EM, Forde C, Harkness EF, Byers HJ, Ellingford JM, Burghel GJ, Schlech H, Bowers NL, Wallace AJ, Howell SJ, Howell A, Lalloo F, Newman WG, Smith MJ, Gareth Evans D.
    • Genet Med. 2021 Jun 10. doi: 10.1038/s41436-021-01234-6. Epub ahead of print.
    • A homozygous nonsense mutation early in exon 5 of BRCA2 is associated with very severe Fanconi anemia.
    • Radulovic I, Kuechler A, Schündeln MM, Paulussen M, von Neuhoff N, Reinhardt D, Hanenberg H.
    • Eur J Med Genet. 2021 Jun 9:104260. doi: 10.1016/j.ejmg.2021.104260.
    • Case report
    • Management of Women With Breast Cancer and Pathogenic Variants in Genes Other Than BRCA1 or BRCA2.
    • Robson M.
    • J Clin Oncol. 2021 Jun 9:JCO2100999. doi: 10.1200/JCO.21.00999. Epub ahead of print.
    • Case report
    • Risk of Breast Cancer Among Carriers of Pathogenic Variants in Breast Cancer Predisposition Genes Varies by Polygenic Risk Score.
    • Gao C, Polley EC, Hart SN, Huang H, Hu C, Gnanaolivu R, Lilyquist J, Boddicker NJ, Na J, Ambrosone CB, Auer PL, Bernstein L, Burnside ES, Eliassen AH, Gaudet MM, Haiman C, Hunter DJ, Jacobs EJ, John EM, Lindström S, Ma H, Neuhausen SL, Newcomb PA, O'Brien KM, Olson JE, Ong IM, Patel AV, Palmer JR, Sandler DP, Tamimi R, Taylor JA, Teras LR, Trentham-Dietz A, Vachon CM, Weinberg CR, Yao S, Weitzel JN, Goldgar DE, Domchek SM, Nathanson KL, Couch FJ, Kraft P.
    • J Clin Oncol. 2021 Jun 8:JCO2001992. doi: 10.1200/JCO.20.01992. Epub ahead of print.
    • Myriad Genetics Recalibrates Breast Cancer PRS for All Ancestries in Anticipation of Broader Launch.
    • Ray T.
    • GenomeWeb. Diagnostics. Home Diagnostics. 2021 Jun 5.
    • News
    • Double heterozygotes of BRCA1/BRCA2 and mismatch repair gene pathogenic variants: case series and clinical implications.
    • Laish I, Friedman E, Levi-Reznick G, Kedar I, Katz L, Levi Z, Halpern N, Parnasa S, Abu-Shatya A, Half E, Goldberg Y.
    • Breast Cancer Res Treat. 2021 Jun 4. doi: 10.1007/s10549-021-06258-9. Epub ahead of print.
    • Fanconi Anemia.
    • Mehta PA, Ebens C.
    • 2002 Feb 14 [updated 2021 Jun 3]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2021.
    • Oncological Follow-up with 2-[18F]-FDG PET/CT in Li-Fraumeni Syndrome.
    • Hernandez MA, Vega Gonzalez IF, Vélez LL, Arango CM.
    • Mol Imaging Radionucl Ther. 2021 Jun 3;30(2):110-112. doi: 10.4274/mirt.galenos.2020.33255.
    • Quality and Quantity: How to Organize a Countrywide Genetic Counseling and Testing.
    • Schmutzler RK.
    • Breast Care (Basel). 2021 Jun;16(3):196-201. doi: 10.1159/000515429. Epub 2021 May 7.
    • From BRCA1 to Polygenic Risk Scores: Mutation-Associated Risks in Breast Cancer-Related Genes.
    • Woodward ER, van Veen EM, Evans DG.
    • Breast Care (Basel). 2021 Jun;16(3):202-213. doi: 10.1159/000515319. Epub 2021 Mar 31.
    • Re: ERCC3, a new ovarian cancer susceptibility gene?
    • Soukupova J, Zemankova P, Nehasil P, Kleibl Z; CZECANCA consortium.
    • Eur J Cancer. 2021 Jun;150:278-280. doi: 10.1016/j.ejca.2021.03.014. Epub 2021 Apr 21.
    • Letter, Comment

    Original research:

    ERCC3, a new ovarian cancer susceptibility gene?

    Letter, Reply:

    Response to letter entitled: Re: ERCC3 a new ovarian cancer susceptibility gene?

    • [A Case of Diagnosed Lynch Syndrome in a Patient with Ureteral Cancer].
    • Kobayashi G, Takayanagi A, Shindo T, Hashimoto K, Kobayashi K, Fukuta F, Tanaka T, Masumori N.
    • Hinyokika Kiyo. 2021 Jun;67(6):229-232. Japanese. doi: 10.14989/ActaUrolJap_67_6_229.
    • Case report. [Article in Japanese]
    • Comprehensive Mutational Analysis of the BRCA1-Associated DNA Helicase and Tumor-Suppressor FANCJ/BACH1/BRIP1.
    • Calvo JA, Fritchman B, Hernandez D, Persky NS, Johannessen CM, Piccioni F, Kelch BA, Cantor SB.
    • Mol Cancer Res. 2021 Jun;19(6):1015-1025. doi: 10.1158/1541-7786.MCR-20-0828. Epub 2021 Feb 22.
    • DNA methylation variations in familial female and male breast cancer.
    • Abeni E, Grossi I, Marchina E, Coniglio A, Incardona P, Cavalli P, Zorzi F, Chiodera PL, Paties CT, Crosatti M, De Petro G, Salvi A.
    • Oncol Lett. 2021 Jun;21(6):468. doi: 10.3892/ol.2021.12729. Epub 2021 Apr 12.
    • Study of the Genetic Variants in BRCA1/2 and Non-BRCA Genes in a Population-Based Cohort of 2155 Breast/Ovary Cancer Patients, Including 443 Triple-Negative Breast Cancer Patients, in Argentina.
    • Solano AR, Mele PG, Jalil FS, Liria NC, Podesta EJ, Gutiérrez LG.
    • Cancers (Basel). 2021 May 31;13(11):2711. doi: 10.3390/cancers13112711.
    • Detecting Variants in the NBN Gene While Testing for Hereditary Breast Cancer: What to Do Next?
    • Zuntini R, Bonora E, Pradella LM, Amato LB, Vidone M, De Fanti S, Catucci I, Cortesi L, Medici V, Ferrari S, Gasparre G, Peterlongo P, Sazzini M, Turchetti D.
    • Int J Mol Sci. 2021 May 29;22(11):5832. doi: 10.3390/ijms22115832.
    • Genetic Testing Challenges in Oncology: Immigrant Mislabeled as BRCA-Positive, Regrets Ovary Removal.
    • Ray T.
    • Precision Oncology News. Diagnostics. Molecular Diagnostics. 2021 May 28.
    • A hereditary ovarian cancer family with rare pathogenic splicing mutation: Implications for variant interpretation.
    • Wang K, Ye Y, Bao L, Cheng Y, Cao Y, Yu J.
    • Cancer Genet. 2021 May 26;256-257:127-130. doi: 10.1016/j.cancergen.2021.05.007. Epub ahead of print.
    • Case report
    • Identification of a Splice Variant (c.5074+3A>C) of BRCA1 by RNA Sequencing and TOPO Cloning.
    • Hong J, Kim JH, Ahn SH, Gu H, Chang S, Lee W, Kim DY, Chun S, Min WK.
    • Genes (Basel). 2021 May 26;12(6):810. doi: 10.3390/genes12060810.
    • Ex vivo analysis of DNA repair targeting in extreme rare cutaneous apocrine sweat gland carcinoma.
    • Mäkelä R, Härmä V, Fajardo NB, Wells G, Lygerou Z, Sangfelt O, Kononen J, Rantala JK.
    • Oncotarget. 2021 May 25;12(11):1100-1109. doi: 10.18632/oncotarget.27961.
    • Epidemiology and clinicopathological features of lung cancer in patients with prior history of breast cancer.
    • Wang KY, Newman J, Lee CS, Seetharamu N.
    • SAGE Open Med. 2021 May 25;9:20503121211017757. doi: 10.1177/20503121211017757.
    • Homologous recombination deficiency: cancer predispositions and treatment implications.
    • Toh MR, Ngeow J.
    • Oncologist. 2021 May 22. doi: 10.1002/onco.13829. Epub ahead of print.
    • Mutations in BRCA1/2 and Other Panel Genes in Patients With Metastatic Breast Cancer -Association With Patient and Disease Characteristics and Effect on Prognosis.
    • Fasching PA, Yadav S, Hu C, Wunderle M, Häberle L, Hart SN, Rübner M, Polley EC, Lee KY, Gnanaolivu RD, Hadji P, Hübner H, Tesch H, Ettl J, Overkamp F, Lux MP, Ekici AB, Volz B, Uhrig S, Lüftner D, Wallwiener M, Müller V, Belleville E, Untch M, Kolberg HC, Beckmann MW, Reis A, Hartmann A, Janni W, Wimberger P, Taran FA, Fehm TN, Wallwiener D, Brucker SY, Schneeweiss A, Hartkopf AD, Couch FJ.
    • J Clin Oncol. 2021 May 20;39(15):1619-1630. doi: 10.1200/JCO.20.01200. Epub 2021 Mar 29.
    • Feasibility of predicting allele specific expression from DNA sequencing using machine learning.
    • Zhang Z, van Dijk F, de Klein N, van Gijn ME, Franke LH, Sinke RJ, Swertz MA, van der Velde KJ.
    • Sci Rep. 2021 May 19;11(1):10606. doi: 10.1038/s41598-021-89904-y.
    • Predictive and Prognostic Value of Microsatellite Instability in Gynecologic Cancer (Endometrial and Ovarian).
    • Evrard C, Alexandre J.
    • Cancers (Basel). 2021 May 18;13(10):2434. doi: 10.3390/cancers13102434.
    • Breast Cancer-Related Low Penetrance Genes.
    • Kang D, Choi JY.
    • Adv Exp Med Biol. 2021 [First Online: 14 May 2021];1187:419-434. doi: 10.1007/978-981-32-9620-6_22.
    • Review, eBook chapter
    • BRCA and Breast Cancer-Related High-Penetrance Genes.
    • Han SA, Kim SW.
    • Adv Exp Med Biol. 2021 [First Online: 14 May 2021];1187:473-490. doi: 10.1007/978-981-32-9620-6_25.
    • Review, eBook chapter
    • Gene-Environment Interactions Relevant to Estrogen and Risk of Breast Cancer: Can Gene-Environment Interactions Be Detected Only among Candidate SNPs from Genome-Wide Association Studies?
    • Park J, Choi JY, Choi J, Chung S, Song N, Park SK, Han W, Noh DY, Ahn SH, Lee JW, Kim MK, Jee SH, Wen W, Bolla MK, Wang Q, Dennis J, Michailidou K, Shah M, Conroy DM, Harrington PA, Mayes R, Czene K, Hall P, Teras LR, Patel AV, Couch FJ, Olson JE, Sawyer EJ, Roylance R, Bojesen SE, Flyger H, Lambrechts D, Baten A, Matsuo K, Ito H, Guénel P, Truong T, Keeman R, Schmidt MK, Wu AH, Tseng CC, Cox A, Cross SS, kConFab Investigators, Andrulis IL, Hopper JL, Southey MC, Wu PE, Shen CY, Fasching PA, Ekici AB, Muir K, Lophatananon A, Brenner H, Arndt V, Jones ME, Swerdlow AJ, Hoppe R, Ko YD, Hartman M, Li J, Mannermaa A, Hartikainen JM, Benitez J, González-Neira A, Haiman CA, Dörk T, Bogdanova NV, Teo SH, Mohd Taib NA, Fletcher O, Johnson N, Grip M, Winqvist R, Blomqvist C, Nevanlinna H, Lindblom A, Wendt C, Kristensen VN, Nbcs Collaborators, Tollenaar RAEM, Heemskerk-Gerritsen BAM, Radice P, Bonanni B, Hamann U, Manoochehri M, Lacey JV, Martinez ME, Dunning AM, Pharoah PDP, Easton DF, Yoo KY, Kang D.
    • Cancers (Basel). 2021 May 14;13(10):2370. doi: 10.3390/cancers13102370.
    • The ATM Gene in Breast Cancer: Its Relevance in Clinical Practice.
    • Stucci LS, Internò V, Tucci M, Perrone M, Mannavola F, Palmirotta R, Porta C.
    • Genes (Basel). 2021 May 13;12(5):727. doi: 10.3390/genes12050727.
    • Breast Cancer Adjuvant Radiotherapy in BRCA1/2, TP53, ATM Genes Mutations: Are There Solved Issues?
    • Lazzari G, Buono G, Zannino B, Silvano G.
    • Breast Cancer (Dove Med Press). 2021 May 12;13:299-310. doi: 10.2147/BCTT.S306075.
    • Frequency of CDH1 Germline Mutations in Non-Gastric Cancers.
    • Massari G, Magnoni F, Favia G, Peradze N, Veronesi P, La Vecchia C, Corso G.
    • Cancers (Basel). 2021 May 12;13(10):2321. doi: 10.3390/cancers13102321.
    • Evaluation of the association of heterozygous germline variants in NTHL1 with breast cancer predisposition: an international multi-center study of 47,180 subjects.
    • Li N, Zethoven M, McInerny S, Devereux L, Huang YK, Thio N, Cheasley D, Gutiérrez-Enríquez S, Moles-Fernández A, Diez O, Nguyen-Dumont T, Southey MC, Hopper JL, Simard J, Dumont M, Soucy P, Meindl A, Schmutzler R, Schmidt MK, Adank MA, Andrulis IL, Hahnen E, Engel C, Lesueur F, Girard E, Neuhausen SL, Ziv E, Allen J, Easton DF, Scott RJ, Gorringe KL, James PA, Campbell IG.
    • NPJ Breast Cancer. 2021 May 12;7(1):52. doi: 10.1038/s41523-021-00255-3.
    • Fanconi Anemia Gene Variants in Patients with Gonadal Dysfunction.
    • Daum H, Zlotogora J.
    • Reprod Sci. 2021 May 11. doi: 10.1007/s43032-021-00582-7. Epub ahead of print.
    • Review
    • Penetrance of Breast Cancer Susceptibility Genes From the eMERGE III Network.
    • Fan X, Wynn J, Shang N, Liu C, Fedotov A, Hallquist MLG, Buchanan AH, Williams MS, Smith ME, Hoell C, Rasmussen-Torvik LJ, Peterson JF, Wiesner GL, Murad AM, Jarvik GP, Gordon AS, Rosenthal EA, Stanaway IB, Crosslin DR, Larson EB, Leppig KA, Henrikson NB, Williams JL, Li R, Hebbring S, Weng C, Shen Y, Crew KD, Chung WK.
    • JNCI Cancer Spectr. 2021 May 8;5(4):pkab044. doi: 10.1093/jncics/pkab044.
    • Exome sequencing in BRCA1-2 candidate familias: the contribution of other cancer susceptibility genes.
    • Doddato G, Valentino F, Giliberti A, Papa FT, Tita R, Bruno LP, Resciniti S, Fallerini C, Benetti E, Palmieri M, Mencarelli MA, Fabbiani A, Bruttini M, Orrico A, Baldassarri M, Fava F, Lopergolo D, Lo Rizzo C, Lamacchia V, Mannucci S, Pinto AM, Curr A, Mancini V; Oncologic Multidisciplinary Team, Azienda Ospedaliera Universitaria Senese; Oncologic Multidisciplinary Team, Azienda Usl Toscana Sud Est, Mari F, Renieri A, Ariani F.
    • Front Oncol. 2021 May 7;11:649435. doi: 10.3389/fonc.2021.649435. Erratum in: Front Oncol. 2021 Aug 17;11:740860.
    • BRCA2 3'-UTR Polymorphism rs15869 Alters Susceptibility to Papillary Thyroid Carcinoma via Binding hsa-mir-1178-3p.
    • Guo N, Qu P, Li H, Liu L, Jin H, Liu R, Zhang Z, Zhang X, Li Y, Lu X, Zhao Y.
    • Pharmgenomics Pers Med. 2021 May 6;14:533-544. doi: 10.2147/PGPM.S300783.
    • A Validated Functional Analysis of PALB2 (Partner and Localizer of BRCA2) Missense Variants for Use in Clinical Variant Interpretation.
    • Brnich SE, Arteaga EC, Wang Y, Tan X, Berg JS.
    • J Mol Diagn. 2021 May 5:S1525-1578(21)00119-7. doi: 10.1016/j.jmoldx.2021.04.010. Epub ahead of print.
    • Functional consequences of a rare missense BARD1 c.403G>A germline mutation identified in a triple-negative breast cancer patient.
    • Zheng Y, Li B, Pan D, Cao J, Zhang J, Wang X, Li X, Hou W, Bao D, Ren L, Yang J, Wang S, Qiu Y, Zhou F, Liu Z, Zhu S, Zhang L, Qing T, Wang Y, Yu Y, Wu J, Hu X, Shi L.
    • Breast Cancer Res. 2021 May 1;23(1):53. doi: 10.1186/s13058-021-01428-5.
    • Characteristics of Li-Fraumeni Syndrome in Japan; A Review Study by the Special Committee of JSHT.
    • Funato M, Tsunematsu Y, Yamazaki F, Tamura C, Kumamoto T, Takagi M, Kato S, Sugimura H, Tamura K.
    • Cancer Sci. 2021 May 1. doi: 10.1111/cas.14919. Epub ahead of print.
    • Further delineation of the NTHL1 associated syndrome: A report from the French Oncogenetic Consortium.
    • Boulouard F, Kasper E, Buisine MP, Lienard G, Vasseur S, Manase S, Bahuau M, Barouk Simonet E, Bubien V, Coulet F, Cusin V, Dhooge M, Golmard L, Goussot V, Hamzaoui N, Lacaze E, Lejeune S, Mauillon J, Beaumont MP, Pinson S, Tlemsani C, Toulas C, Rey JM, Uhrhammer N, Bougeard G, Frebourg T, Houdayer C, Baert-Desurmont S.
    • Clin Genet. 2021 May;99(5):662-672. doi: 10.1111/cge.13925. Epub 2021 Feb 12.
    • Case report
    • Single nucleotide polymorphisms in breast cancer susceptibility gene 1 are associated with susceptibility to lung cancer.
    • Liu D, Gao Y, Li L, Chen H, Bai L, Qu Y, Zhou B, Yan Y, Zhao Y.
    • Oncol Lett. 2021 May;21(5):424. doi: 10.3892/ol.2021.12685. Epub 2021 Mar 29.
    • Age of ovarian cancer diagnosis among BRIP1, RAD51C, and RAD51D mutation carriers identified through multi-gene panel testing.
    • Cummings S, Roman SS, Saam J, Bernhisel R, Brown K, Lancaster JM, Usha L.
    • J Ovarian Res. 2021 Apr 29;14(1):61. doi: 10.1186/s13048-021-00809-w.
    • Ovarian carcinoma in children with constitutional mutation of SMARCA4: single-family report and literature review.
    • Pastorczak A, Krajewska K, Urbanska Z, Szmyd B, Salacinska-Los E, Kobos J, Mlynarski W, Trelinska J.
    • Fam Cancer. 2021 Apr 28. doi: 10.1007/s10689-021-00258-w. Epub ahead of print.
    • CHEK2 Pathogenic Variants in Greek Breast Cancer Patients: Evidence for Strong Associations with Estrogen Receptor Positivity, Overuse of Risk-Reducing Procedures and Population Founder Effects.
    • Apostolou P, Dellatola V, Papadimitriou C, Kalfakakou D, Fountzilas E, Faliakou E, Fountzilas G, Romanidou O, Konstantopoulou I, Fostira F.
    • Cancers (Basel). 2021 Apr 27;13(9):2106. doi: 10.3390/cancers13092106.
    • Congenital bilateral cryptorchidism in an infant conceived after maternal breast cancer treatment: A case report.
    • Hu WK, Liu J, Liu RX, Liu XW, Yin CH.
    • World J Clin Cases. 2021 Apr 26;9(12):2923-2929. doi: 10.12998/wjcc.v9.i12.2923.
    • Functional Genomic Analyses of the 21q22.3 Locus Identifying Functional Variants and Candidate Gene YBEY for Breast Cancer Risk.
    • Shidal C, Shu X, Wu J, Wang J, Huang S, Long J, Bauer JA, Ping J, Guo X, Zheng W, Shu XO, Cai Q.
    • Cancers (Basel). 2021 Apr 23;13(9):2037. doi: 10.3390/cancers13092037.
    • Characterisation of PALB2 tumours through whole-exome and whole-transcriptomic analyses.
    • Ng PS, Pan JW, Ahmad Zabidi MM, Rajadurai P, Yip CH, Reuda OM, Dunning AM, Antoniou AC, Easton DF, Caldas C, Chin SF, Teo SH.
    • NPJ Breast Cancer. 2021 Apr 23;7(1):46. doi: 10.1038/s41523-021-00254-4.
    • Comments on "Association between breast cancer risk and disease aggressiveness: Characterizing underlying gene expression patterns".
    • Brane A, Behring M, Halilova KI, Norian L.
    • Int J Cancer. 2021 Apr 22. doi: 10.1002/ijc.33605. Epub ahead of print.
    • Letter, Commentary

    Original research:

    Association between breast cancer risk and disease aggressiveness: Characterizing underlying gene expression patterns.

    • The Quandary of DNA-Based Treatment Assessment in De Novo Metastatic Prostate Cancer in the Era of Precision Oncology.
    • Nakken S, Lilleby W, Switlyk MD, Knudsen KE, Lilleby O, Zhao S, Kaveh F, Ekstrøm PO, Urbanucci A, Hovig E.
    • J Pers Med. 2021 Apr 22;11(5):330. doi: 10.3390/jpm11050330.
    • Clinicopathologic Profile of Breast Cancer in Germline ATM and CHEK2 Mutation Carriers.
    • Toss A, Tenedini E, Piombino C, Venturelli M, Marchi I, Gasparini E, Barbieri E, Razzaboni E, Domati F, Caggia F, Grandi G, Combi F, Tazzioli G, Dominici M, Tagliafico E, Cortesi L.
    • Genes (Basel). 2021 Apr 21;12(5):616. doi: 10.3390/genes12050616.
    • Disease Spectrum of Breast Cancer Susceptibility Genes.
    • Wang J, Singh P, Yin K, Zhou J, Bao Y, Wu M, Pathak K, McKinley SK, Braun D, Hughes KS.
    • Front Oncol. 2021 Apr 20;11:663419. doi: 10.3389/fonc.2021.663419.
    • Fast Five Quiz: Breast Cancer Myths.
    • Chalasani P.
    • Medscape. Drugs & Diseases. 2021 Apr 20.
    • A Case Report of Breast Implant-Associated Anaplastic Large-Cell Lymphoma in a PALB2 Mutation-Positive Woman.
    • Bonev V.
    • Am Surg. 2021 Apr 15:31348211011056. doi: 10.1177/00031348211011056. Epub ahead of print.
    • Case report
    • Familial wild-type gastrointestinal stromal tumour in association with germline truncating variants in both SDHA and PALB2.
    • Whitworth J, Casey RT, Smith PS, Giger O, Martin JE, Clark G, Cook J, Fernando MS, Taniere P; NIHR BioResource, Maher ER.
    • Eur J Hum Genet. 2021 Apr 15. doi: 10.1038/s41431-021-00862-5. Epub ahead of print.
    • Gene- and pathway-level analyses of iCOGS variants highlight novel signaling pathways underlying familial breast cancer susceptibility.
    • Lonjou C, Eon-Marchais S, Truong T, Dondon MG, Karimi M, Jiao Y, Damiola F, Barjhoux L, Le Gal D, Beauvallet J, Mebirouk N, Cavaciuti E, Chiesa J, Floquet A, Audebert-Bellanger S, Giraud S, Frebourg T, Limacher JM, Gladieff L, Mortemousque I, Dreyfus H, Lejeune-Dumoulin S, Lasset C, Venat-Bouvet L, Bignon YJ, Pujol P, Maugard CM, Luporsi E, Bonadona V, Noguès C, Berthet P, Delnatte C, Gesta P, Lortholary A, Faivre L, Buecher B, Caron O, Gauthier-Villars M, Coupier I, Mazoyer S, Monraz LC, Kondratova M, Kuperstein I, Guénel P, Barillot E, Stoppa-Lyonnet D, Andrieu N, Lesueur F.
    • Int J Cancer. 2021 Apr 15;148(8):1895-1909. doi: 10.1002/ijc.33457. Epub 2021 Jan 9.
    • Germline Structural Variations in Cancer Predisposition Genes.
    • Pócza T, Grolmusz VK, Papp J, Butz H, Patócs A, Bozsik A.
    • Front Genet. 2021 Apr 14;12:634217. doi: 10.3389/fgene.2021.634217.
    • Cellular Mechanism of Gene Mutations and Potential Therapeutic Targets in Ovarian Cancer.
    • Guo T, Dong X, Xie S, Zhang L, Zeng P, Zhang L.
    • Cancer Manag Res. 2021 Apr 8;13:3081-3100. doi: 10.2147/CMAR.S292992.
    • Malignant Phyllodes Tumor of the Breast: A Practice Review.
    • Fede ÂBS, Pereira Souza R, Doi M, De Brot M, Aparecida Bueno de Toledo Osorio C, Rocha Melo Gondim G, Casali-da-Rocha JC, Jbili R, Bitencourt AGV, Alves de Souza J, Caparica Bitton R, Baroni Alves Makdissi F, Moraes Sanches S.
    • Clin Pract. 2021 Apr 6;11(2):205-215. doi: 10.3390/clinpract11020030.
    • Association of Vitamin D Receptor and Vitamin D-Binding Protein Polymorphisms with Familial Breast Cancer Prognosis in a Mono-Institutional Cohort.
    • Aristarco V, Johansson H, Gandini S, Macis D, Zanzottera C, Tolva G, Feroce I, Accornero C, Bonanni B, Guerrieri-Gonzaga A, Serrano D.
    • Nutrients. 2021 Apr 6;13(4):1208. doi: 10.3390/nu13041208.
    • Genetic Association Analysis Implicates Six MicroRNA-Related SNPs With Increased Risk of Breast Cancer in Australian Caucasian Women.
    • Arif KMT, Bradshaw G, Nguyen TTN, Smith RA, Okolicsanyi RK, Youl PH, Haupt LM, Griffiths LR.
    • Clin Breast Cancer. 2021 Apr 5:S1526-8209(21)00067-7. doi: 10.1016/j.clbc.2021.03.012. Epub ahead of print.
    • HER2-positive breast cancer in a germline BRCA1 gene large deletion carrier.
    • Uchida N, Takeshita M, Suda T, Matsui Y, Yoshida M.
    • Int Cancer Conf J. 2021 Apr 3;10(3):181-185. doi: 10.1007/s13691-021-00481-3.
    • Case report
    • Chronic Lymphocytic Leukemia in Neurofibromatosis Type 1 Patients: Case Report and Literature Review of a Rare Occurrence.
    • Cohen PR.
    • Cureus. 2021 Apr 2;13(4):e14258. doi: 10.7759/cureus.14258.
    • Characterisation of protein-truncating and missense variants in PALB2 in 15 768 women from Malaysia and Singapore.
    • Ng PS, Boonen RA, Wijaya E, Chong CE, Sharma M, Knaup S, Mariapun S, Ho WK, Lim J, Yoon SY, Mohd Taib NA, See MH, Li J, Lim SH, Tan EY, Tan BK, Tan SM, Tan VK, van Dam RM, Rahmat K, Yip CH, Carvalho S, Luccarini C, Baynes C, Dunning AM, Antoniou A, van Attikum H, Easton DF, Hartman M, Teo SH.
    • J Med Genet. 2021 Apr 2:jmedgenet-2020-107471. doi: 10.1136/jmedgenet-2020-107471. Epub ahead of print.
    • Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.
    • Cobain EF, Wu YM, Vats P, Chugh R, Worden F, Smith DC, Schuetze SM, Zalupski MM, Sahai V, Alva A, Schott AF, Caram MEV, Hayes DF, Stoffel EM, Jacobs MF, Kumar-Sinha C, Cao X, Wang R, Lucas D, Ning Y, Rabban E, Bell J, Camelo-Piragua S, Udager AM, Cieslik M, Lonigro RJ, Kunju LP, Robinson DR, Talpaz M, Chinnaiyan AM.
    • JAMA Oncol. 2021 Apr 1;7(4):525-533. doi: 10.1001/jamaoncol.2020.7987.

    Editorial:

    Precision Medicine in Oncology-Toward the Integrated Targeting of Somatic and Germline Genomic Aberrations.

    Letter, Comment:

    Is Universal Next-Generation Sequencing Testing of Patients With Advanced Cancer Ready for Prime Time?

    Letter, Reply:

    Is Universal Next-Generation Sequencing Testing of Patients With Advanced Cancer Ready for Prime Time?-Reply.

    Press: Germline Testing: Variant in 1 in 6 Cases of Advanced Cancer. (Medscape Oncology)

    • Systemic alterations play a dominant role in epigenetic predisposition to breast cancer in offspring of obese fathers and is transmitted to a second generation.
    • Fontelles CC, da Cruz RS, Gonsiewski AK, Barin E, Tekmen V, Jin L, Cruz MI, Loudig O, Warri A, de Assis S.
    • Sci Rep. 2021 Apr 1;11(1):7317. doi: 10.1038/s41598-021-86548-w.
    • Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report.
    • Dominguez-Valentin M, Crosbie EJ, Engel C, Aretz S, Macrae F, Winship I, Capella G, Thomas H, Nakken S, Hovig E, Nielsen M, Sijmons RH, Bertario L, Bonanni B, Tibiletti MG, Cavestro GM, Mints M, Gluck N, Katz L, Heinimann K, Vaccaro CA, Green K, Lalloo F, Hill J, Schmiegel W, Vangala D, Perne C, Strauß HG, Tecklenburg J, Holinski-Feder E, Steinke-Lange V, Mecklin JP, Plazzer JP, Pineda M, Navarro M, Vidal JB, Kariv R, Rosner G, Piñero TA, Gonzalez ML, Kalfayan P, Ryan N, Ten Broeke SW, Jenkins MA, Sunde L, Bernstein I, Burn J, Greenblatt M, de Vos Tot Nederveen Cappel WH, Della Valle A, Lopez-Koestner F, Alvarez K, Büttner R, Görgens H, Morak M, Holzapfel S, Hüneburg R, von Knebel Doeberitz M, Loeffler M, Rahner N, Weitz J, Pylvänäinen K, Renkonen-Sinisalo L, Lepistö A, Auranen A, Hopper JL, Win AK, Haile RW, Lindor NM, Gallinger S, Le Marchand L, Newcomb PA, Figueiredo JC, Thibodeau SN, Therkildsen C, Okkels H, Ketabi Z, Denton OG, Rødland EA, Vasen H, Neffa F, Esperon P, Tjandra D, Möslein G, Sampson JR, Evans DG, Seppälä TT, Møller P.
    • Genet Med. 2021 Apr;23(4):705-712. doi: 10.1038/s41436-020-01029-1. Epub 2020 Dec 1.
    • Structure analysis of deleterious nsSNPs in human PALB2 protein for functional inference.
    • Nawar N, Paul A, Mahmood HN, Faisal MI, Hosen MI, Shekhar HU.
    • Bioinformation. 2021 Mar 31;17(3):424-438. doi: 10.6026/97320630017424.
    • Germline mutations in apoptosis pathway genes in ovarian cancer; the functional role of a TP53I3 (PIG3) variant in ROS production and DNA repair.
    • Chaudhry SR, Lopes J, Levin NK, Kalpage H, Tainsky MA.
    • Cell Death Discov. 2021 Mar 29;7(1):62. doi: 10.1038/s41420-021-00442-y.
    • What’s Autism Got To Do With It?
    • [No author given]
    • My Gene Counsel. Genetic Journal. 2021 Mar 27.
    • Solid Pseudopapillary Neoplasm of the Pancreas and Abdominal Desmoid Tumor in a Patient Carrying Two Different BRCA2 Germline Mutations: New Horizons from Tumor Molecular Profiling.
    • Mafficini A, Lawlor RT, Ghimenton C, Antonello D, Cantù C, Paolino G, Nottegar A, Piredda ML, Salvia R, Milella M, Dei Tos AP, Fassan M, Scarpa A, Luchini C.
    • Genes (Basel). 2021 Mar 26;12(4):481. doi: 10.3390/genes12040481.
    • Case Report: Coinheritance of Germline Mutations in APC and BRCA1 in Colorectal Cancer.
    • Huang W, Bian J, Qian X, Shao L, Li H, Zhang L, Wang L.
    • Front Oncol. 2021 Mar 25;11:658389. doi: 10.3389/fonc.2021.658389.
    • Delineation of an unknown significance FANCA genetic variant in a recurrent breast cancer patient.
    • Kastora S, Triantafyllidou O, Kounidas G, Vlahos N.
    • BMJ Case Rep. 2021 Mar 24;14(3):e241251. doi: 10.1136/bcr-2020-241251.
    • Case report
    • Rare Germline Pathogenic Variants Identified by Multigene Panel Testing and the Risk of Aggressive Prostate Cancer.
    • Nguyen-Dumont T, Dowty JG, MacInnis RJ, Steen JA, Riaz M, Dugué PA, Renault AL, Hammet F, Mahmoodi M, Theys D, Tsimiklis H, Severi G, Bolton D, Lacaze P, Sebra R, Schadt E, McNeil J, Giles GG, Milne RL, Southey MC.
    • Cancers (Basel). 2021 Mar 24;13(7):1495. doi: 10.3390/cancers13071495.
    • Investigation of The Relationship of TNFRSF11A Gene Polymorphisms with Breast Cancer Development and Metastasis Risk in Patients with BRCA1 Or BRCA2 Pathogenic Variants Living in The Trakya Region of Turkey.
    • Özdemir K, Gürkan H, Demir S, Atli E, Özen Y, Sezer A, Tunçbilek N, Çicin I.
    • Balkan J Med Genet. 2021 Mar 23;23(2):49-58. doi: 10.2478/bjmg-2020-0016. eCollection 2020 Nov.
    • The Prognostic and Predictive Role of Somatic BRCA Mutations in Ovarian Cancer: Results from a Multicenter Cohort Study.
    • Toss A, Piombino C, Tenedini E, Bologna A, Gasparini E, Tarantino V, Filieri ME, Cottafavi L, Giovanardi F, Madrigali S, Civallero M, Marcheselli L, Marchi I, Domati F, Venturelli M, Barbieri E, Grandi G, Tagliafico E, Cortesi L.
    • Diagnostics (Basel). 2021 Mar 21;11(3):565. doi: 10.3390/diagnostics11030565.
    • The Clinical and Pathological Profile of BRCA1 Gene Methylated Breast Cancer Women: A Meta-Analysis.
    • Ruscito I, Gasparri ML, De Marco MP, Costanzi F, Besharat AR, Papadia A, Kuehn T, Gentilini OD, Bellati F, Caserta D.
    • Cancers (Basel). 2021 Mar 19;13(6):1391. doi: 10.3390/cancers13061391.
    • Population-Based Estimates of the Age-Specific Cumulative Risk of Breast Cancer for Pathogenic Variants in CHEK2: Findings from the Australian Breast Cancer Family Registry.
    • Nguyen-Dumont T, Dowty JG, Steen JA, Renault AL, Hammet F, Mahmoodi M, Theys D, Rewse A, Tsimiklis H, Winship IM, Giles GG, Milne RL, Hopper JL, Southey MC.
    • Cancers (Basel). 2021 Mar 18;13(6):1378. doi: 10.3390/cancers13061378.
    • Uptake of hysterectomy and bilateral salpingo-oophorectomy in carriers of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report.
    • Seppälä TT, Dominguez-Valentin M, Crosbie EJ, Engel C, Aretz S, Macrae F, Winship I, Capella G, Thomas H, Hovig E, Nielsen M, Sijmons RH, Bertario L, Bonanni B, Tibiletti MG, Cavestro GM, Mints M, Gluck N, Katz L, Heinimann K, Vaccaro CA, Green K, Lalloo F, Hill J, Schmiegel W, Vangala D, Perne C, Strauß HG, Tecklenburg J, Holinski-Feder E, Steinke-Lange V, Mecklin JP, Plazzer JP, Pineda M, Navarro M, Vida JB, Kariv R, Rosner G, Piñero TA, Pavicic W, Kalfayan P, Ten Broeke SW, Jenkins MA, Sunde L, Bernstein I, Burn J, Greenblatt M, de Vos Tot Nederveen Cappel WH, Della Valle A, Lopez-Koestner F, Alvarez K, Büttner R, Görgens H, Morak M, Holzapfel S, Hüneburg R, von Knebel Doeberitz M, Loeffler M, Redler S, Weitz J, Pylvänäinen K, Renkonen-Sinisalo L, Lepistö A, Hopper JL, Win AK, Lindor NM, Gallinger S, Le Marchand L, Newcomb PA, Figueiredo JC, Thibodeau SN, Therkildsen C, Wadt KAW, Mourits MJE, Ketabi Z, Denton OG, Rødland EA, Vasen H, Neffa F, Esperon P, Tjandra D, Möslein G, Rokkones E, Sampson JR, Evans DG, Møller P.
    • Eur J Cancer. 2021 Mar 17;148:124-133. doi: 10.1016/j.ejca.2021.02.022. Epub ahead of print.
    • E2F1 copy number variations in germline and breast cancer: a retrospective study of 222 Italian women.
    • Rocca MS, Benna C, Goldin E, Di Nisio A, De Toni L, Cosci I, Marchet A, Nitti D, Foresta C.
    • Mol Med. 2021 Mar 10;27(1):26. doi: 10.1186/s10020-021-00287-2.
    • Genome-wide association meta-analysis identifies pleiotropic risk loci for aerodigestive squamous cell cancers.
    • Lesseur C, Ferreiro-Iglesias A, McKay JD, Bossé Y, Johansson M, Gaborieau V, Landi MT, Christiani DC, Caporaso NC, Bojesen SE, Amos CI, Shete S, Liu G, Rennert G, Albanes D, Aldrich MC, Tardon A, Chen C, Triantafillos L, Field JK, Teare MD, Kiemeney LA, Diergaarde B, Ferris RL, Zienolddiny S, Lam S, Olshan AF, Weissler MC, Lacko M, Risch A, Bickeböller H, Ness AR, Thomas S, Le Marchand L, Schabath MB, Wünsch-Filho V, Tajara EH, Andrew AS, Clifford GM, Lazarus P, Grankvist K, Johansson M, Arnold S, Melander O, Brunnström H, Boccia S, Cadoni G, Timens W, Obeidat M, Xiao X, Houlston RS, Hung RJ, Brennan P.
    • PLoS Genet. 2021 Mar 5;17(3):e1009254. doi: 10.1371/journal.pgen.1009254.
    • Mismatch Repair Deficiency and Microsatellite Instability in Triple-Negative Breast Cancer: A Retrospective Study of 440 Patients.
    • Ren XY, Song Y, Wang J, Chen LY, Pang JY, Zhou LR, Shen SJ, Cao X, Wang YX, Shao MM, Liang ZY, Sun Q, Wu HW.
    • Front Oncol. 2021 Mar 4;11:570623. doi: 10.3389/fonc.2021.570623.

    Commentary:

    Commentary: Mismatch Repair Deficiency and Microsatellite Instability in Triple-Negative Breast Cancer: A Retrospective Study of 440 Patients.

    • VTRNA2-1: Genetic Variation, Heritable Methylation and Disease Association.
    • Dugué PA, Yu C, McKay T, Wong EM, Joo JE, Tsimiklis H, Hammet F, Mahmoodi M, Theys D, kConFab, Hopper JL, Giles GG, Milne RL, Steen JA, Dowty JG, Nguyen-Dumont T, Southey MC.
    • Int J Mol Sci. 2021 Mar 3;22(5):2535. doi: 10.3390/ijms22052535.
    • Prospective Evaluation of the Addition of Polygenic Risk Scores to Breast Cancer Risk Models.
    • Li SX, Milne RL, Nguyen-Dumont T, Wang X, English DR, Giles GG, Southey MC, Antoniou AC, Lee A, Li S, Winship I, Hopper JL, Terry MB, MacInnis RJ.
    • JNCI Cancer Spectr. 2021 Mar 2;5(3):pkab021. doi: 10.1093/jncics/pkab021.
    • Germline and tumor BRCA1/2 mutations in Chinese high grade serous ovarian cancer patients.
    • Ji G, Yao Q, Bao L, Zhang J, Bai Q, Zhu X, Tu X, Bi R, Zhou X.
    • Ann Transl Med. 2021 Mar;9(6):453. doi: 10.21037/atm-20-6827.
    • Ovarian cancer risk in Lynch syndrome: it's time to individualise.
    • Ring KL.
    • BJOG. 2021 Mar;128(4):737. doi: 10.1111/1471-0528.16481. Epub 2020 Sep 29.

    Original research:

    A mismatch in care: results of a United Kingdom-wide patient and clinician survey of gynaecological services for women with Lynch syndrome

    • Variant in BCAR4 gene correlated with the breast cancer susceptibility and mRNA expression of lncRNA BCAR4 in Chinese Han population.
    • Peng R, Cao J, Guo Q, Sun Q, Xu L, Xie X, Song C.
    • Breast Cancer. 2021 Mar;28(2):424-433. doi: 10.1007/s12282-020-01174-0. Epub 2020 Oct 28.
    • New germline mutations in BRCA1, ATM, MUTYH, and RAD51D genes in Tuvans early-onset breast cancer patients.
    • Gervas P, Molokov A, Ivanova A, Panferova Y, Kiselev A, Chernyshova A, Pisareva L, Choynzonov E, Cherdyntseva N.
    • Exp Oncol. 2021 Mar;43(1):52-55. doi: 10.32471/exp-oncology.2312-8852.vol-43-no-1.15587.
    • Prevalence of BRCA1 and BRCA2 genes promoter hypermethylation in breast cancer tissue.
    • Lobanova OE, Rossokha ZI, Medvedieva NL, Cheshuk VE, Vereshchako RI, Vershyhora VO, Fishchuk LY, Zakhartseva LM, Gorovenko NG.
    • Exp Oncol. 2021 Mar;43(1):56-60. doi: 10.32471/exp-oncology.2312-8852.vol-43-no-1.15703.
    • Co-occurrence of germline pathogenic variants for different hereditary cancer syndromes in patients with Lynch syndrome.
    • Ferrer-Avargues R, Castillejo MI, Dámaso E, Díez-Obrero V, Garrigos N, Molina T, Codoñer-Alejos A, Segura Á, Sánchez-Heras AB, Castillejo A, Soto JL.
    • Cancer Commun (Lond). 2021 Feb 25. doi: 10.1002/cac2.12134. Epub ahead of print.
    • Modification of Homologous Recombination Deficiency Score Threshold and Association with Long-Term Survival in Epithelial Ovarian Cancer.
    • How JA, Jazaeri AA, Fellman B, Daniels MS, Penn S, Solimeno C, Yuan Y, Schmeler K, Lanchbury JS, Timms K, Lu KH, Yates MS.
    • Cancers (Basel). 2021 Feb 24;13(5):946. doi: 10.3390/cancers13050946.
    • Case Report: Detection of a Novel Germline PALB2 Deletion in a Young Woman With Hereditary Breast Cancer: When the Patient's Phenotype History Doesn't Lie.
    • De Angelis C, Nardelli C, Concolino P, Pagliuca M, Setaro M, De Paolis E, De Placido P, Forestieri V, Scaglione GL, Ranieri A, Lombardo B, Pastore L, De Placido S, Capoluongo E.
    • Front Oncol. 2021 Feb 24;11:602523. doi: 10.3389/fonc.2021.602523.
    • A synergetic effect of BARD1 mutations on tumorigenesis.
    • Li W, Gu X, Liu C, Shi Y, Wang P, Zhang N, Wu R, Leng L, Xie B, Song C, Li M.
    • Nat Commun. 2021 Feb 23;12(1):1243. doi: 10.1038/s41467-021-21519-3.
    • Application of Multilayer Evidence for Annotation of C-Terminal BRCA2 Variants.
    • Butz H, Papp J, Bozsik A, Krokker L, Pócza T, Oláh E, Patócs A.
    • Cancers (Basel). 2021 Feb 20;13(4):881. doi: 10.3390/cancers13040881.
    • Recurrent Mutations in BRCA1, BRCA2, RAD51C, PALB2 and CHEK2 in Polish Patients with Ovarian Cancer.
    • Lukomska A, Menkiszak J, Gronwald J, Tomiczek-Szwiec J, Szwiec M, Jasiówka M, Blecharz P, Kluz T, Stawicka-Nielacna M, Madry R, Bialkowska K, Prajzendanc K, Kluzniak W, Cybulski C, Debniak T, Huzarski T, Toloczko-Grabarek A, Byrski T, Baszuk P, Narod SA, Lubinski J, Jakubowska A.
    • Cancers (Basel). 2021 Feb 18;13(4):849. doi: 10.3390/cancers13040849.
    • A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers.
    • Coignard J, Lush M, Beesley J, O'Mara TA, Dennis J, Tyrer JP, Barnes DR, McGuffog L, Leslie G, Bolla MK, Adank MA, Agata S, Ahearn T, Aittomäki K, Andrulis IL, Anton-Culver H, Arndt V, Arnold N, Aronson KJ, Arun BK, Augustinsson A, Azzollini J, Barrowdale D, Baynes C, Becher H, Bermisheva M, Bernstein L, Bialkowska K, Blomqvist C, Bojesen SE, Bonanni B, Borg A, Brauch H, Brenner H, Burwinkel B, Buys SS, Caldés T, Caligo MA, Campa D, Carter BD, Castelao JE, Chang-Claude J, Chanock SJ, Chung WK, Claes KBM, Clarke CL; GEMO Study Collaborators; EMBRACE Collaborators, Collée JM, Conroy DM, Czene K, Daly MB, Devilee P, Diez O, Ding YC, Domchek SM, Dörk T, Dos-Santos-Silva I, Dunning AM, Dwek M, Eccles DM, Eliassen AH, Engel C, Eriksson M, Evans DG, Fasching PA, Flyger H, Fostira F, Friedman E, Fritschi L, Frost D, Gago-Dominguez M, Gapstur SM, Garber J, Garcia-Barberan V, García-Closas M, García-Sáenz JA, Gaudet MM, Gayther SA, Gehrig A, Georgoulias V, Giles GG, Godwin AK, Goldberg MS, Goldgar DE, González-Neira A, Greene MH, Guénel P, Haeberle L, Hahnen E, Haiman CA, Håkansson N, Hall P, Hamann U, Harrington PA, Hart SN, He W, Hogervorst FBL, Hollestelle A, Hopper JL, Horcasitas DJ, Hulick PJ, Hunter DJ, Imyanitov EN; KConFab Investigators; HEBON Investigators; ABCTB Investigators, Jager A, Jakubowska A, James PA, Jensen UB, John EM, Jones ME, Kaaks R, Kapoor PM, Karlan BY, Keeman R, Khusnutdinova E, Kiiski JI, Ko YD, Kosma VM, Kraft P, Kurian AW, Laitman Y, Lambrechts D, Le Marchand L, Lester J, Lesueur F, Lindstrom T, Lopez-Fernández A, Loud JT, Luccarini C, Mannermaa A, Manoukian S, Margolin S, Martens JWM, Mebirouk N, Meindl A, Miller A, Milne RL, Montagna M, Nathanson KL, Neuhausen SL, Nevanlinna H, Nielsen FC, O'Brien KM, Olopade OI, Olson JE, Olsson H, Osorio A, Ottini L, Park-Simon TW, Parsons MT, Pedersen IS, Peshkin B, Peterlongo P, Peto J, Pharoah PDP, Phillips KA, Polley EC, Poppe B, Presneau N, Pujana MA, Punie K, Radice P, Rantala J, Rashid MU, Rennert G, Rennert HS, Robson M, Romero A, Rossing M, Saloustros E, Sandler DP, Santella R, Scheuner MT, Schmidt MK, Schmidt G, Scott C, Sharma P, Soucy P, Southey MC, Spinelli JJ, Steinsnyder Z, Stone J, Stoppa-Lyonnet D, Swerdlow A, Tamimi RM, Tapper WJ, Taylor JA, Terry MB, Teulé A, Thull DL, Tischkowitz M, Toland AE, Torres D, Trainer AH, Truong T, Tung N, Vachon CM, Vega A, Vijai J, Wang Q, Wappenschmidt B, Weinberg CR, Weitzel JN, Wendt C, Wolk A, Yadav S, Yang XR, Yannoukakos D, Zheng W, Ziogas A, Zorn KK, Park SK, Thomassen M, Offit K, Schmutzler RK, Couch FJ, Simard J, Chenevix-Trench G, Easton DF, Andrieu N, Antoniou AC.
    • Nat Commun. 2021 Feb 17;12(1):1078. doi: 10.1038/s41467-020-20496-3.
    • Comparative validation of the BOADICEA and Tyrer-Cuzick breast cancer risk models incorporating classical risk factors and polygenic risk in a population-based prospective cohort of women of European ancestry.
    • Pal Choudhury P, Brook MN, Hurson AN, Lee A, Mulder CV, Coulson P, Schoemaker MJ, Jones ME, Swerdlow AJ, Chatterjee N, Antoniou AC, Garcia-Closas M.
    • Breast Cancer Res. 2021 Feb 15;23(1):22. doi: 10.1186/s13058-021-01399-7.
    • Association between breast cancer risk and disease aggressiveness: Characterizing underlying gene expression patterns.
    • Ugalde-Morales E, Grassmann F, Humphreys K, Li J, Eriksson M, Tobin NP, Borg Å, Vallon-Christersson J, Hall P, Czene K.
    • Int J Cancer. 2021 Feb 15;148(4):884-894. doi: 10.1002/ijc.33270. Epub 2020 Sep 5.

    Letter, Commentary:

    Comments on "Association between breast cancer risk and disease aggressiveness: Characterizing underlying gene expression patterns".

    • The Rare Diagnosis of Synchronous Breast and Colonic Cancers: A Case Report and Review of Literature.
    • Asaad A, Barron M, Rasheed N, Idaewor P, Saad Abdalla Al-Zawi A.
    • Cureus. 2021 Feb 12;13(2):e13314. doi: 10.7759/cureus.13314.
    • The RAD51D c.82G>A (p.Val28Met) variant disrupts normal splicing and is associated with hereditary ovarian cancer.
    • Yang C, Arnold AG, Catchings A, Rai V, Stadler ZK, Zhang L.
    • Breast Cancer Res Treat. 2021 Feb;185(3):869-877. doi: 10.1007/s10549-020-06066-7. Epub 2021 Jan 16.
    • Effects of Germline Pathogenic Variants, Cancer Subtypes, Tumor-related Characteristics, and Pregnancy-associated Diagnosis on Outcomes.
    • Tsai ML, Knaack M, Martone P, Krueger J, Baldinger SR, Lillemoe TJ, Susnik B, Grimm E, Olet S, Rueth N, Swenson KK.
    • Clin Breast Cancer. 2021 Feb;21(1):47-56. doi: 10.1016/j.clbc.2020.07.003. Epub 2020 Jul 9.
    • Analysis of 11 candidate genes in 849 adult patients with suspected hereditary cancer predisposition.
    • Cavaillé M, Uhrhammer N, Privat M, Ponelle-Chachuat F, Gay-Bellile M, Lepage M, Molnar I, Viala S, Bidet Y, Bignon YJ.
    • Genes Chromosomes Cancer. 2021 Feb;60(2):73-78. doi: 10.1002/gcc.22911. Epub 2020 Nov 10.
    • Concurrent germline BRCA1, BRCA2, and CHEK2 pathogenic variants in hereditary breast cancer: a case series.
    • Sukumar J, Kassem M, Agnese D, Pilarski R, Ramaswamy B, Sweet K, Sardesai S.
    • Breast Cancer Res Treat. 2021 Jan 28. doi: 10.1007/s10549-021-06095-w. Epub ahead of print.
    • Germline pathogenic variants in the Ataxia Telangiectasia Mutated (ATM) gene are associated with high and moderate risks for multiple cancers.
    • Hall MJ, Bernhisel R, Hughes E, Larson K, Rosenthal ET, Singh NA, Lancaster JM, Kurian AW.
    • Cancer Prev Res (Phila). 2021 Jan 28:canprevres.0448.2020. doi: 10.1158/1940-6207.CAPR-20-0448. Epub ahead of print.
    • Integrating Clinical and Polygenic Factors to Predict Breast Cancer Risk in Women Undergoing Genetic Testing.
    • Hughes E, Tshiaba P, Wagner S, Judkins T, Rosenthal E, Roa B, Gallagher S, Meek S, Dalton K, Hedegard W, Adami CA, Grear DF, Domchek SM, Garber J, Lancaster JM, Weitzel JN, Kurian AW, Lanchbury JS, Gutin A, Robson ME.
    • JCO Precis Oncol. 2021 Jan 28;5:PO.20.00246. doi: 10.1200/PO.20.00246.
    • Investigating the causal role of MRE11A p.E506* in breast and ovarian cancer.
    • Elkholi IE, Di Iorio M, Fahiminiya S, Arcand SL, Han H, Nogué C, Behl S, Hamel N, Giroux S, de Ladurantaye M, Aleynikova O, Gotlieb WH, Côté JF, Rousseau F, Tonin PN, Provencher D, MesMasson AM, Akbari MR, Rivera B, Foulkes WD.
    • Sci Rep. 2021 Jan 28;11(1):2409. doi: 10.1038/s41598-021-81106-w.
    • Germline copy number variations in BRCA1/2 negative families: Role in the molecular etiology of hereditary breast cancer in Tunisia.
    • Boujemaa M, Hamdi Y, Mejri N, Romdhane L, Ghedira K, Bouaziz H, El Benna H, Labidi S, Dallali H, Jaidane O, Ben Nasr S, Haddaoui A, Rahal K, Abdelhak S, Boussen H, Boubaker MS.
    • PLoS One. 2021 Jan 27;16(1):e0245362. doi: 10.1371/journal.pone.0245362.
    • K3326X and Other C-Terminal BRCA2 Variants Implicated in Hereditary Cancer Syndromes: A Review.
    • Baughan S, Tainsky MA.
    • Cancers (Basel). 2021 Jan 25;13(3):447. doi: 10.3390/cancers13030447.
    • Incidence of the CHEK2 Germline Mutation and Its Impact on Clinicopathological Features, Treatment Responses, and Disease Course in Patients with Papillary Thyroid Carcinoma.
    • Gasior-Perczak D, Kowalik A, Gruszczynski K, Walczyk A, Siolek M, Palyga I, Trepka S, Mikina E, Trybek T, Kopczynski J, Suligowska A, Slusarczyk R, Gonet A, Jaskulski J, Orlowski P, Chrapek M, Gózdz S, Kowalska A.
    • Cancers (Basel). 2021 Jan 26;13(3):470. doi: 10.3390/cancers13030470.
    • ASCO 2020: highlights in breast cancer.
    • Bartsch R.
    • Memo. 2021 Jan 24:1-4. doi: 10.1007/s12254-021-00674-9. Epub ahead of print.
    • BARD1 Pathogenic Variants are Associated with Triple-Negative Breast Cancer in a Spanish Hereditary Breast and Ovarian Cancer Cohort.
    • Rofes P, Del Valle J, Torres-Esquius S, Feliubadaló L, Stradella A, Moreno-Cabrera JM, López-Doriga A, Munté E, De Cid R, Campos O, Cuesta R, Teulé Á, Grau È, Sanz J, Capellá G, Díez O, Brunet J, Balmaña J, Lázaro C.
    • Genes (Basel). 2021 Jan 23;12(2):150. doi: 10.3390/genes12020150.
    • Inherited predisposition to breast cancer in the Carolina Breast Cancer Study.
    • Walsh T, Gulsuner S, Lee MK, Troester MA, Olshan AF, Earp HS, Perou CM, King MC.
    • NPJ Breast Cancer. 2021 Jan 21;7(1):6. doi: 10.1038/s41523-020-00214-4.
    • Interpretation of BRCA2 Splicing Variants: A Case Series of Challenging Variant Interpretations and the Importance of Functional RNA Analysis.
    • Nix P, Mundt E, Coffee B, Goossen E, Warf BM, Brown K, Bowles K, Roa B.
    • Fam Cancer. 2021 Jan 20. doi: 10.1007/s10689-020-00224-y. Epub ahead of print.
    • ATM germline variants and male breast cancer.
    • Cunha R, Nejo P, Bento S, Vaz F.
    • BMJ Case Rep. 2021 Jan 18;14(1):e238100. doi: 10.1136/bcr-2020-238100.
    • Case report
    • A Case Report of Germline Compound Heterozygous Mutations in the BRCA1 Gene of an Ovarian and Breast Cancer Patient.
    • Kwong A, Ho CYS, Shin VY, Au CH, Chan TL, Ma ESK.
    • Int J Mol Sci. 2021 Jan 17;22(2):E889. doi: 10.3390/ijms22020889.
    • Double heterozygosity for TP53 and BRCA1 mutations: clinical implications in populations with founder mutations.
    • Shani H, Bernstein-Molho R, Laitman Y, Netzer I, Friedman E.
    • Breast Cancer Res Treat. 2021 Jan 15. doi: 10.1007/s10549-020-06084-5. Epub ahead of print.
    • Case report
    • Morbidity, risk of cancer and mortality in 3,645 HFE mutations carriers.
    • Hagström H, Ndegwa N, Jalmeus M, Ekstedt M, Posserud I, Rorsman F, Nyhlin N, Klintman D, Werner M, Marschall HU, Askling J, Stål P; Swedish Hepatology Study Group (SweHep).
    • Liver Int. 2021 Jan 15. doi: 10.1111/liv.14792. Epub ahead of print.
    • Pathogenic Germline Variants in Cancer Susceptibility Genes in Children and Young Adults With Rhabdomyosarcoma.
    • Kim J, Light N, Subasri V, Young EL, Wegman-Ostrosky T, Barkauskas DA, Hall D, Lupo PJ, Patidar R, Maese LD, Jones K, Wang M, Tavtigian SV, Wu D, Shlien A, Telfer F, Goldenberg A, Skapek SX, Wei JS, Wen X, Catchpoole D, Hawkins DS, Schiffman JD, Khan J, Malkin D, Stewart DR.
    • JCO Precis Oncol. 2021 Jan 11;5:PO.20.00218. doi: 10.1200/PO.20.00218.
    • Targeting mTOR and DNA repair pathways in residual triple negative breast cancer post neoadjuvant chemotherapy.
    • Anand K, Patel T, Niravath P, Rodriguez A, Darcourt J, Belcheva A, Boone T, Ensor J, Chang J.
    • Sci Rep. 2021 Jan 8;11(1):82. doi: 10.1038/s41598-020-80081-y.
    • Germline APOBEC3B deletion increases somatic hypermutation in Asian breast cancer that is associated with Her2 subtype, PIK3CA mutations, and immune activation.
    • Pan JW, Zabidi MMA, Chong BK, Meng MY, Ng PS, Hasan SN, Sandey B, Bahnu S, Rajadurai P, Yip CH, Rueda OM, Caldas C, Chin SF, Teo SH.
    • Int J Cancer. 2021 Jan 7. doi: 10.1002/ijc.33463. Epub ahead of print.
    • Peripheral blood BRCA1 methylation profiling to predict familial ovarian cancer.
    • Jung Y, Hur S, Liu J, Lee S, Kang BS, Kim M, Choi YJ.
    • J Gynecol Oncol. 2021 Jan 7. doi: 10.3802/jgo.2021.32.e23. Epub ahead of print.

    Editorial, Research review:

    Peripheral blood BRCA1 methylation profiling to predict familial ovarian cancer.

    • Correlation between ZBRK1/ZNF350 gene polymorphism and breast cancer.
    • Wu J, Eni A, Roussuri E, Ma B.
    • BMC Med Genomics. 2021 Jan 6;14(1):7. doi: 10.1186/s12920-020-00862-2.
    • Reduced translation efficiency due to novel splicing variants in 5' untranslated region and identification of novel cis-regulatory elements in canine and human BRCA2.
    • Yoshikawa Y, Kozuma H, Morimatsu M, Sugawara K, Orino K.
    • BMC Mol Cell Biol. 2021 Jan 6;22(1):2. doi: 10.1186/s12860-020-00336-4.
    • Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology.
    • Daly MB, Pal T, Berry MP, Buys SS, Dickson P, Domchek SM, Elkhanany A, Friedman S, Goggins M, Hutton ML; CGC, Karlan BY, Khan S, Klein C, Kohlmann W; CGC, Kurian AW, Laronga C, Litton JK, Mak JS; LCGC, Menendez CS, Merajver SD, Norquist BS, Offit K, Pederson HJ, Reiser G; CGC, Senter-Jamieson L; CGC, Shannon KM, Shatsky R, Visvanathan K, Weitzel JN, Wick MJ, Wisinski KB, Yurgelun MB, Darlow SD, Dwyer MA.
    • J Natl Compr Canc Netw. 2021 Jan 6;19(1):77-102. doi: 10.6004/jnccn.2021.0001.
    • Beyond BRCA: Cowden Syndrome (PTEN)
    • [No author given]
    • My Gene Counsel. Genetic Journal. 2021 Jan 6.
    • Two tSNPs in BRIP1 are associated with breast cancer during TDT analysis.
    • Li X, Li Z, Yang M, Luo Y, Hu L, Xiao Z, Huang A, Huang J.
    • Mol Genet Genomic Med. 2021 Jan 5:e1578. doi: 10.1002/mgg3.1578. Epub ahead of print.
    • Impact of xenobiotic-metabolizing gene polymorphisms on breast cancer risk in South Indian women.
    • Rajagopal T, Seshachalam A, Rathnam KK, Jothi A, Talluri S, Venkatabalasubramanian S, Dunna NR.
    • Breast Cancer Res Treat. 2021 Jan 4. doi: 10.1007/s10549-020-06028-z. Epub ahead of print.
    • Prevalence of germline TP53 variants among early-onset breast cancer patients from Polish population.
    • Rogoza-Janiszewska E, Malinska K, Górski B, Scott RJ, Cybulski C, Kluzniak W, Lener M, Jakubowska A, Gronwald J, Huzarski T, Lubinski J, Debniak T.
    • Breast Cancer. 2021 Jan;28(1):226-235. doi: 10.1007/s12282-020-01151-7. Epub 2020 Sep 4.
    • Cross-Cancer Genome-Wide Association Study of Endometrial Cancer and Epithelial Ovarian Cancer Identifies Genetic Risk Regions Associated with Risk of Both Cancers.
    • Glubb DM, Thompson DJ, Aben KKH, Alsulimani A, Amant F, Annibali D, Attia J, Barricarte A, Beckmann MW, Berchuck A, Bermisheva M, Bernardini MQ, Bischof K, Bjorge L, Bodelon C, Brand AH, Brenton JD, Brinton LA, Bruinsma F, Buchanan DD, Burghaus S, Butzow R, Cai H, Carney ME, Chanock SJ, Chen C, Chen XQ, Chen Z, Cook LS, Cunningham JM, De Vivo I, deFazio A, Doherty JA, Dörk T, du Bois A, Dunning AM, Dürst M, Edwards T, Edwards RP, Ekici AB, Ewing A, Fasching PA, Ferguson S, Flanagan JM, Fostira F, Fountzilas G, Friedenreich CM, Gao B, Gaudet MM, Gawelko J, Gentry-Maharaj A, Giles GG, Glasspool R, Goodman MT, Gronwald J, Harris HR, Harter P, Hein A, Heitz F, Hildebrandt MAT, Hillemanns P, Høgdall E, Høgdall CK, Holliday EG, Huntsman DG, Huzarski T, Jakubowska A, Jensen A, Jones ME, Karlan BY, Karnezis A, Kelley JL, Khusnutdinova E, Killeen JL, Kjaer SK, Klapdor R, Köbel M, Konopka B, Konstantopoulou I, Kopperud RK, Koti M, Kraft P, Kupryjanczyk J, Lambrechts D, Larson MC, Le Marchand L, Lele S, Lester J, Li AJ, Liang D, Liebrich C, Lipworth L, Lissowska J, Lu L, Lu KH, Macciotta A, Mattiello A, May T, McAlpine JN, McGuire V, McNeish IA, Menon U, Modugno F, Moysich KB, Nevanlinna H, Odunsi K, Olsson H, Orsulic S, Osorio A, Palli D, Park-Simon TW, Pearce CL, Pejovic T, Permuth JB, Podgorska A, Ramus SJ, Rebbeck TR, Riggan MJ, Risch HA, Rothstein JH, Runnebaum IB, Scott RJ, Sellers TA, Senz J, Setiawan VW, Siddiqui N, Sieh W, Spiewankiewicz B, Sutphen R, Swerdlow AJ, Szafron LM, Teo SH, Thompson PJ, Thomsen LCV, Titus L, Tone A, Tumino R, Turman C, Vanderstichele A, Edwards DV, Vergote I, Vierkant RA, Wang Z, Wang-Gohrke S, Webb PM; OPAL Study Group; AOCS Group, White E, Whittemore AS, Winham SJ, Wu X, Wu AH, Yannoukakos D, Spurdle AB, O'Mara TA.
    • Cancer Epidemiol Biomarkers Prev. 2021 Jan;30(1):217-228. doi: 10.1158/1055-9965.EPI-20-0739. Epub 2020 Nov 3.
    • New surveillance guidelines for Li-Fraumeni and hereditary TP53 related cancer syndrome: implications for germline TP53 testing in breast cancer.
    • Evans DG, Woodward ER.
    • Fam Cancer. 2021 Jan;20(1):1-7. doi: 10.1007/s10689-020-00207-z.
    • Relationship between MUTYH, OGG1 and BRCA1 mutations and mRNA expression in breast and ovarian cancer predisposition.
    • Moscatello C, Di Nicola M, Veschi S, Di Gregorio P, Cianchetti E, Stuppia L, Battista P, Cama A, Curia MC, Aceto GM.
    • Mol Clin Oncol. 2021 Jan;14(1):15. doi: 10.3892/mco.2020.2177. Epub 2020 Nov 26.

Continue to Older References