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

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    Commentary:

    One Size Does Not Fit All: Breast Cancer in Young Women.

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    • Letter, Case report

    Case report:

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

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    Commentary:

    Mismatch repair deficiency in ovarian cancer.

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    • Truncating TINF2 p.Tyr312Ter variant and inherited breast cancer susceptibility.
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    • Apparent regional differences in the spectrum of BARD1 pathogenic variants in Spanish population and importance of copy number variants.
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    • Understanding the Experience of Canadian Women Living with Ovarian Cancer through the Every Woman Study™.
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    • Review
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    • A Review of MutSa and its Absence in Mismatch Repair Related Ovarian Carcinomas.
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    • Identification of hereditary breast and ovarian cancer germline variants in Granada (Spain): NGS perspective.
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    • The Genetic and Molecular Analyses of RAD51C and RAD51D Identifies Rare Variants Implicated in Hereditary Ovarian Cancer from a Genetically Unique Population.
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    • Editorial: Familial Cancer in China: From Detection to Screening and Management.
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    • 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.
    • Clinical relevance of pathogenic germline variants in mismatch repair genes in Chinese breast cancer patients.
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    • 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, Long Roche K, Zivanovic O, Maio A, Kemel Y, Chi DS, O'Cearbhaill RE, Aghajanian C, Weigelt B, Chui MH, Grisham RN.
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    • Male Breast Cancer: From Molecular Genetics to Clinical Management.
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    • Overall survival analysis of > 65-year-old patients with breast cancer based on their molecular, clinicopathological and laboratory factors.
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    • Germline Mutational Landscape in Chinese Patients With Advanced Breast Cancer.
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    • Evaluation of a Four-Gene Panel for Hereditary Cancer Risk Assessment.
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    • Management of BRCA Tumour Testing in an Integrated Molecular Tumour Board Multidisciplinary Model.
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    • Contribution of large genomic rearrangements in PALB2 to familial breast cancer: implications for genetic testing.
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    • Identification and Somatic Characterization of the Germline PTEN Promoter Variant rs34149102 in a Family with Gastrointestinal and Breast Tumors.
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    • Population-based estimates of age-specific cumulative risk of breast cancer for pathogenic variants in ATM.
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    • Cancer Causative Mutations Occurring in Early Embryogenesis.
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    • Cancer Discov. 2022 Apr 1;12(4):949-957. doi: 10.1158/2159-8290.CD-21-1110.

    Commentary:

    Patchwork Cancer Predisposition.

    • Consensus Recommendations of the German Consortium for Hereditary Breast and Ovarian Cancer.
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    • 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.
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    • A founder CHEK2 pathogenic variant in association with kidney cancer.
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    • Case report
    • Germline pathogenic variants in cancer risk genes among patients with thyroid cancer and suspected predisposition.
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    • 30 year experience of index case identification and outcomes of cascade testing in high-risk breast and colorectal cancer predisposition genes.
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    • Questioning the validity of clinically available breast cancer polygenic risk scores: comparison of two labs reveals discrepancies.
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    • Letter, Commentary
    • Extended gene panel testing in lobular breast cancer.
    • van Veen EM, Evans DG, Harkness EF, Byers HJ, Ellingford JM, Woodward ER, Bowers NL, Wallace AJ, Howell SJ, Howell A, Lalloo F, Newman WG, Smith MJ.
    • Fam Cancer. 2022 Apr;21(2):129-136. doi: 10.1007/s10689-021-00241-5. Epub 2021 Mar 25.
    • 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.
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    • Conference report
    • The psychological impact and experience of breast cancer screening in young women with an increased risk of breast cancer due to neurofibromatosis type 1.
    • Crook A, Kwa R, Ephraums S, Wilding M, Thiyagarajan L, Fleming J, Moore K, Berman Y.
    • Fam Cancer. 2022 Apr;21(2):241-253. doi: 10.1007/s10689-021-00259-9. Epub 2021 May 8.
    • Evaluation of hereditary/familial breast cancer patients with multigene targeted next generation sequencing panel and MLPA analysis in Turkey.
    • Bora E, Caglayan AO, Koc A, Cankaya T, Ozkalayci H, Kocabey M, Kemer D, Aksoy S, Alicikus ZA, Akin IB, Durak MG, Gurel D, Yavuzsen T, Sevinc A, Somali I, Gorken I, Balci P, Karaoglu A, Saydam S, Ulgenalp A.
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    • Comparison of mutational profiles between triple-negative and hormone receptor-positive/human epidermal growth factor receptor 2-negative breast cancers in T2N0-1M0 stage: Implications of TP53 and PIK3CA mutations in Korean early-stage breast cancers.
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    • Curr Probl Cancer. 2022 Apr;46(2):100843. doi: 10.1016/j.currproblcancer.2022.100843. Epub 2022 Feb 9.
    • Next step in molecular genetics of hereditary breast/ovarian cancer: Multigene panel testing in clinical actionably genes and prioritization algorithms in the study of variants of uncertain significance.
    • Castillo-Guardiola V, Rosado-Jiménez L, Sarabia-Meseguer MD, Marín-Vera M, Macías-Cerrolaza JA, García-Hernández R, Zafra-Poves M, Sánchez-Henarejos P, Moreno-Locubiche MÁ, Cuevas-Tortosa E, Arnaldos-Carrillo M, Ayala de la Peña F, Alonso-Romero JL, Noguera-Velasco JA, Ruiz-Espejo F.
    • Eur J Med Genet. 2022 Apr;65(4):104468. doi: 10.1016/j.ejmg.2022.104468. Epub 2022 Mar 1.
    • 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.
    • Association Between Genetic Testing for Hereditary Breast Cancer and Contralateral Prophylactic Mastectomy Among Multiethnic Women Diagnosed With Early-Stage Breast Cancer.
    • Ro V, McGuinness JE, Guo B, Trivedi MS, Jones T, Chung WK, Rao R, Levinson E, Koval C, Russo D, Chilton I, Kukafka R, Crew KD.
    • JCO Oncol Pract. 2022 Apr;18(4):e472-e483. doi: 10.1200/OP.21.00322. Epub 2021 Oct 27.
    • Hereditary Diffuse Gastric Cancer-Update Based on the Current Consort Recommendations.
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    • Health influenced by genetics: A first comprehensive analysis of breast cancer high and moderate penetrance susceptibility genes in the Tunisian population.
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    • Germline Variants in Cancer Genes from Young Breast Cancer Mexican Patients.
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    • 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.
    • "You Always Have It in the Back of Your Mind"-Feelings, Coping, and Support Needs of Women with Pathogenic Variants in Moderate-Risk Genes for Hereditary Breast Cancer Attending Genetic Counseling in Germany: A Qualitative Interview Study.
    • Stracke C, Lemmen C, Rhiem K, Schmutzler R, Kautz-Freimuth S, Stock S.
    • Int J Environ Res Public Health. 2022 Mar 16;19(6):3525. doi: 10.3390/ijerph19063525.
    • Prevalence and spectrum of pathogenic variants among patients with multiple primary cancers evaluated by clinical characteristics.
    • Bychkovsky BL, Lo MT, Yussuf A, Horton C, Richardson M, LaDuca H, Garber JE, Rana HQ.
    • Cancer. 2022 Mar 15;128(6):1275-1283. doi: 10.1002/cncr.34056. Epub 2021 Dec 7.
    • Platinum-based chemotherapy for pancreatic cancer: impact of mutations in the homologous recombination repair and Fanconi anemia genes.
    • Emelyanova M, Pudova E, Khomich D, Krasnov G, Popova A, Abramov I, Mikhailovich V, Filipenko M, Menshikova S, Tjulandin S, Pokataev I.
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    • 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.
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    • Case report
    • Real-World Data on Detection of Germline and Somatic Pathogenic/Likely Pathogenic Variants in BRCA1/2 and Other Susceptibility Genes in Ovarian Cancer Patients Using Next Generation Sequencing.
    • Stegel V, Blatnik A, Škof E, Dragoš VŠ, Krajc M, Gregoric B, Škerl P, Strojnik K, Klancar G, Banjac M, Žgajnar J, Ravnik M, Novakovic S.
    • Cancers (Basel). 2022 Mar 10;14(6):1434. doi: 10.3390/cancers14061434.
    • Germline Mutation Analysis in Sporadic Breast Cancer Cases With Clinical Correlations.
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    • Front Genet. 2022 Mar 9;13:820610. doi: 10.3389/fgene.2022.820610.
    • Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.
    • Guindalini RSC, Viana DV, Kitajima JPFW, Rocha VM, López RVM, Zheng Y, Freitas É, Monteiro FPM, Valim A, Schlesinger D, Kok F, Olopade OI, Folgueira MAAK.
    • Sci Rep. 2022 Mar 9;12(1):4190. doi: 10.1038/s41598-022-07383-1.
    • 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.
    • Clinician-Reported Impact of Germline Multigene Panel Testing on Cancer Risk Management Recommendations.
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    • JNCI Cancer Spectr. 2022 Mar 2;6(2):pkac002. doi: 10.1093/jncics/pkac002.
    • 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)

    • 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.
    • 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
    • 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
    • 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.
    • Genetic predisposition to cancer across people of different ancestries in Qatar: a population-based, cohort study.
    • Saad M, Mokrab Y, Halabi N, Shan J, Razali R, Kunji K, Syed N, Temanni R, Subramanian M, Ceccarelli M; Qatar Genome Programme Research Consortium, Rafii Tabrizi A, Bedognetti D, Chouchane L.
    • Lancet Oncol. 2022 Mar;23(3):341-352. doi: 10.1016/S1470-2045(21)00752-X. Epub 2022 Feb 9.

    Commentary:

    Genetic risk of cancer: a tale of diversity from the Middle East.

    Research news: Genetic Cancer Risk Varies by Ancestry in Qatari Population, New Analysis Finds. (GenomeWeb)

    Research news: Qatar Genome Program Reports Genetic Cancer Risk in Diverse Arab Populations. (Inside Precision Medicine)

    • 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.
    • Hereditary Breast and Ovarian Cancer: An Updated Primer for OB/GYNs.
    • Bellcross CA.
    • Obstet Gynecol Clin North Am. 2022 Mar;49(1):117-147. doi: 10.1016/j.ogc.2021.11.005.
    • Review
    • 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.
    • 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.

    • Germline pathogenic variants in Mexican patients with hereditary triple-negative breast cancer.
    • Chavarri-Guerra Y, Villarreal-Garza C, Ferrigno AS, Mohar A, Aguilar D, Alvarez-Gomez RM, Gallardo-Alvarado L, Del Toro-Valero A, Quintero-Beulo G, Gutierrez-Delgado F, Rodriguez-Olivares JL, Ochoa-Chavez MF, Gutierrez-Seymour G, Castillo D, Herzog J, Weitzel JN.
    • Salud Publica Mex. 2022 Feb 25;64(1):41-48. doi: 10.21149/12704.
    • 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.
    • 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)

    • BRCA testing and testing results among women 18-65 years old.
    • Guo F, Scholl M, Fuchs EL, Berenson AB, Kuo YF.
    • Prev Med Rep. 2022 Feb 19;26:101738. doi: 10.1016/j.pmedr.2022.101738.
    • 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.
    • 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
    • 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.
    • 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.
    • 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.
    • ASO Author Reflections: Germline Testing for All Patients With Breast Cancer: Has the Time Finally Come?
    • Mittal A, Pramanik R.
    • Ann Surg Oncol. 2022 Feb;29(2):1433-1434. doi: 10.1245/s10434-021-10880-8. Epub 2021 Oct 15.
    • 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.
    • Polygenic risk in familial breast cancer: Changing the dynamics of communicating genetic risk.
    • Gregory G, Das Gupta K, Meiser B, Barlow-Stewart K, Geelan-Small P, Kaur R, Scheepers-Joynt M, McInerny S, Taylor S, Antill Y, Salmon L, Smyth C, Young MA, James PA, Yanes T.
    • J Genet Couns. 2022 Feb;31(1):120-129. doi: 10.1002/jgc4.1458. Epub 2021 Jul 5.
    • 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.
    • Novel Insights From the Germline Landscape of Breast Cancer in Brazil.
    • Barbalho D, Sandoval R, Santos E, Pisani J, Quirino C, Garicochea B, Rossi B, Achatz MI.
    • Front Oncol. 2022 Jan 28;11:743231. doi: 10.3389/fonc.2021.743231.
    • 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 Jan 27:e216744. doi: 10.1001/jamaoncol.2021.6744. Epub ahead of print.

    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)

    • 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.
    • Germline sequence variants contributing to cancer susceptibility in South African breast cancer patients of African ancestry.
    • Eygelaar D, van Rensburg EJ, Joubert F.
    • Sci Rep. 2022 Jan 17;12(1):802. doi: 10.1038/s41598-022-04791-1.
    • 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.
    • Tempus, GSK Initiate Phase II Trial of Niraparib in PALB2-Mutated Tumors.
    • [No author given]
    • Precision Oncology News. Diagnostics. 2022 Jan 14.
    • 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.
    • 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.
    • Beyond BRCA1/2: Homologous Recombination Repair Genetic Profile in a Large Cohort of Apulian Ovarian Cancers.
    • Turchiano A, Loconte DC, De Nola R, Arezzo F, Chiarello G, Pantaleo A, Iacoviello M, Bagnulo R, De Luisi A, Perrelli S, Martino S, Ranieri C, Garganese A, Stella A, Forleo C, Loizzi V, Marinaccio M, Cicinelli E, Cormio G, Resta N.
    • Cancers (Basel). 2022 Jan 12;14(2):365. doi: 10.3390/cancers14020365.
    • Next-Generation Sequencing Reveals a Very Low Prevalence of Deleterious Mutations of Homologous Recombination Repair Genes and Homologous Recombination Deficiency in Ovarian Clear Cell Carcinoma.
    • Liu H, Zhang Z, Chen L, Pang J, Wu H, Liang Z.
    • Front Oncol. 2022 Jan 12;11:798173. doi: 10.3389/fonc.2021.798173.
    • Comprehensive Analysis of Somatic Reversion Mutations in Homologous Recombination Repair (HRR) Genes in A Large Cohort of Chinese Pan-cancer Patients.
    • Zong H, Zhang J, Xu Z, Pan JN, Wang R, Han J, Jiang M, Ren R, Zang L, Wang H, Cao WM.
    • J Cancer. 2022 Jan 9;13(4):1119-1129. doi: 10.7150/jca.65650.
    • Identification and Characterization of an Exonic Duplication in PALB2 in a Man with Synchronous Breast and Prostate Cancer.
    • Bouras A, Lafaye C, Leone M, Kherraf ZE, Martin-Denavit T, Fert-Ferrer S, Calender A, Boutry-Kryza N.
    • Int J Mol Sci. 2022 Jan 8;23(2):667. doi: 10.3390/ijms23020667.
    • Identification of CHEK2 germline mutations in BRCA1/2 and PALB2 negative breast and ovarian cancer patients.
    • Aksoy F, Tezcan Unlu H, Cecener G, Guney Eskiler G, Egeli U, Tunca B, Efendi Erdem E, Senol K, Gokgoz MS.
    • Hum Hered. 2022 Jan 6. doi: 10.1159/000521369. Epub ahead of print.
    • 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.
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    • Landscape of homologous recombination deficiencies in solid tumours: analyses of two independent genomic datasets.
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    • 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.
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    • Cancer Res. 2022 Jan 1;82(1):25-35. doi: 10.1158/0008-5472.CAN-21-1207. Epub 2021 Oct 28.
    • Investigation of discordant sibling pairs from hereditary breast cancer families and analysis of a rare PMS1 variant.
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    Commentary:

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

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    • Pathogenicity of VHL variants in families with non-syndromic von Hippel-Lindau phenotypes: An integrated evaluation of germline and somatic genomic results.
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    • Epigenetic Dysregulation of KCNK9 Imprinting and Triple-Negative Breast Cancer.
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    • 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.
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    • 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.
    • Exonic sequencing and MLH3 gene expression analysis of breast cancer patients.
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    • 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.
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    • RAD52: Paradigm of Synthetic Lethality and New Developments.
    • Rossi MJ, DiDomenico SF, Patel M, Mazin AV.
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    • The Mutational Landscape of Early-Onset Breast Cancer: a Next-generation Sequencing Analysis.
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    • Implication and Influence of Multigene Panel Testing with Genetic Counseling in Korean Patients with BRCA1/2 Mutation-Negative Breast Cancer.
    • Park JS, Shin S, Lee YJ, Lee ST, Nam EJ, Han JW, Lee SH, Kim TI, Park HS.
    • Cancer Res Treat. 2021 Nov 17. doi: 10.4143/crt.2021.978. Epub ahead of print.
    • A Review of Breast Cancer Risk Factors in Adolescents and Young Adults.
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    • 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.
    • Germline DNA damage repair gene mutations in pancreatic cancer patients with personal/family histories of pancreas/breast/ovarian/prostate cancer in a Japanese population.
    • Hata T, Mizuma M, Motoi F, Ishida M, Ohtsuka H, Nakagawa K, Morikawa T, Furukawa T, Unno M.
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    • Mutations in BRCA-related breast and ovarian cancer in the South African Indian population: A descriptive study.
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    • Cancer Genet. 2021 Nov;258-259:1-6. doi: 10.1016/j.cancergen.2021.06.002. Epub 2021 Jun 15.

    Dataset description:

    A South African Indian population group dataset for breast cancer and BRCA1/2 variants.

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    • Breast cancer characteristics and surgery among women with Li-Fraumeni syndrome in Germany-A retrospective cohort study.
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    • Rapid Breakpoint Mapping of a Novel Germline PALB2 Duplication by PCR-Free Long-Read Sequencing for Interpretation of Its Pathogenicity.
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    • JCO Precis Oncol. 2021 Nov;5:1044-1047. doi: 10.1200/PO.20.00454.
    • Case report
    • 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.
    • Massive parallel sequencing in individuals with multiple primary tumours reveals the benefit of re-analysis.
    • Karin W, Håkan T, Daniel N, Emma T.
    • Hered Cancer Clin Pract. 2021 Oct 28;19(1):46. doi: 10.1186/s13053-021-00203-z.
    • Genetic Testing Challenges in Oncology: Same Multigene Cancer Risk Panel Not Right for All.
    • Ray T.
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    • Penetrance of male breast cancer susceptibility genes: a systematic review.
    • Chamseddine RS, Wang C, Yin K, Wang J, Singh P, Zhou J, Robson ME, Braun D, Hughes KS.
    • Breast Cancer Res Treat. 2021 Oct 13. doi: 10.1007/s10549-021-06413-2. Epub ahead of print.
    • Review
    • 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.
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    • 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.
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    • 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.
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    • Racial and Ethnic Differences in Multigene Hereditary Cancer Panel Test Results for Women With Breast Cancer.
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    • [No author given]
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    Original research:

    Therapeutic Implications of Germline Testing in Patients With Advanced Cancers.

    • 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.
    • 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.
    • Genetic testing in women with early-onset breast cancer: a Traceback pilot study.
    • Augustinsson A, Nilsson MP, Ellberg C, Kristoffersson U, Olsson H, Ehrencrona H.
    • Breast Cancer Res Treat. 2021 Sep 16:1–9. doi: 10.1007/s10549-021-06351-z. Epub ahead of print.
    • 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.
    • 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.
    • Transcriptome of Male Breast Cancer Matched with Germline Profiling Reveals Novel Molecular Subtypes with Possible Clinical Relevance.
    • Zelli V, Silvestri V, Valentini V, Bucalo A, Rizzolo P, Zanna I, Bianchi S, Coppa A, Giannini G, Cortesi L, Calistri D, Tibiletti MG, Fox SB, Fab K, Palli D, Ottini L.
    • Cancers (Basel). 2021 Sep 8;13(18):4515. doi: 10.3390/cancers13184515.
    • Feasibility of genetic testing for cancer risk assessment programme in Nigeria.
    • Adejumo PO, Aniagwu TIG, Awolude OA, Oni AO, Ajayi OO, Fagbenle O, Ogungbade D, Kochheiser M, Ogundiran T, Olopade OI.
    • Ecancermedicalscience. 2021 Sep 7;15:1283. doi: 10.3332/ecancer.2021.1283.
    • 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.

    Original research:

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

    • 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.
    • 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

    • Multiple Mutation Detection for Risk Assessment in Patients with Breast Cancer by Using Next-Generation Sequencing.
    • Liu PF, Zhuo ZL, Xie F, Xian HP, Liu C, Wang S, Zhao XT.
    • Ann Clin Lab Sci. 2021 Sep;51(5):670-677.
    • 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.
    • Prevalence of mutations in BRCA and homologous recombination repair genes and real-world standard of care of Asian patients with HER2-negative metastatic breast cancer starting first-line systemic cytotoxic chemotherapy: subgroup analysis of the global BREAKOUT study.
    • Koh SJ, Ohsumi S, Takahashi M, Fukuma E, Jung KH, Ishida T, Dai MS, Chang CH, Dalvi T, Walker G, Bennett J, O'Shaughnessy J, Balmaña J.
    • Breast Cancer. 2021 Aug 31. doi: 10.1007/s12282-021-01283-4. Epub ahead of print.
    • Genetic predisposition to male breast cancer in Poland.
    • Szwiec M, Tomiczek-Szwiec J, Kluzniak W, Wokolorczyk D, Osowiecka K, Sibilski R, Wachowiak M, Gronwald J, Gronwald H, Lubinski J, Cybulski C, Narod SA, Huzarski T.
    • BMC Cancer. 2021 Aug 30;21(1):975. doi: 10.1186/s12885-021-08718-3.
    • Implementation of Multigene Germline and Parallel Somatic Genetic Testing in Epithelial Ovarian Cancer: SIGNPOST Study.
    • Chandrasekaran D, Sobocan M, Blyuss O, Miller RE, Evans O, Crusz SM, Mills-Baldock T, Sun L, Hammond RFL, Gaba F, Jenkins LA, Ahmed M, Kumar A, Jeyarajah A, Lawrence AC, Brockbank E, Phadnis S, Quigley M, El Khouly F, Wuntakal R, Faruqi A, Trevisan G, Casey L, Burghel GJ, Schlecht H, Bulman M, Smith P, Bowers NL, Legood R, Lockley M, Wallace A, Singh N, Evans DG, Manchanda R.
    • Cancers (Basel). 2021 Aug 27;13(17):4344. doi: 10.3390/cancers13174344.
    • 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.
    • Germline mutations in Black patients with ovarian, fallopian tube and primary peritoneal carcinomas.
    • Somasegar S, Weiss AS, Norquist BM, Khasnavis N, Radke M, Manhardt E, Pennil C, Pennington KP, Eckert MA, Chryplewicz A, Lengyel E, Swisher EM.
    • Gynecol Oncol. 2021 Aug 24:S0090-8258(21)01315-9. doi: 10.1016/j.ygyno.2021.08.017. Epub ahead of print.
    • 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
    • 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.
    • Genetic Variants and Tumor Immune Microenvironment: Clues for Targeted Therapies in Inflammatory Breast Cancer (IBC).
    • Gong Y, Nagarathinam R, Arisi MF, Gerratana L, Winn JS, Slifker M, Pei J, Cai KQ, Hasse Z, Obeid E, Noriega J, Sebastiano C, Ross E, Alpaugh K, Cristofanilli M, Fernandez SV.
    • Int J Mol Sci. 2021 Aug 19;22(16):8924. doi: 10.3390/ijms22168924.
    • Study: Frequency of inherited mutations linked to breast cancer are similar in Black and white women.
    • [No author given]
    • FORCE. XRAY. 2021 Aug 13.

    Original research:

    Comparison of the Prevalence of Pathogenic Variants in Cancer Susceptibility Genes in Black Women and Non-Hispanic White Women With Breast Cancer in the United States.

    • The Fanconi anemia pathway and Breast Cancer: A comprehensive review of clinical data.
    • Gianni P, Matenoglou E, Geropoulos G, Agrawal N, Adnani H, Zafeiropoulos S, Miyara SJ, Guevara S, Mumford JM, Molmenti EP, Giannis D.
    • Clin Breast Cancer. 2021 Aug 10:S1526-8209(21)00238-X. doi: 10.1016/j.clbc.2021.08.001. Epub ahead of print.
    • Review
    • 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.
    • 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
    • Risks and Function of Breast Cancer Susceptibility Alleles.
    • Torabi Dalivandan S, Plummer J, Gayther SA.
    • Cancers (Basel). 2021 Aug 5;13(16):3953. doi: 10.3390/cancers13163953.
    • 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
    • Optimization of prediction methods for risk assessment of pathogenic germline variants in the Japanese population.
    • Senda N, Kawaguchi-Sakita N, Kawashima M, Inagaki-Kawata Y, Yoshida K, Takada M, Kataoka M, Torii M, Nishimura T, Kawaguchi K, Suzuki E, Kataoka Y, Matsumoto Y, Yoshibayashi H, Yamagami K, Tsuyuki S, Takahara S, Yamauchi A, Shinkura N, Kato H, Moriguchi Y, Okamura R, Kan N, Suwa H, Sakata S, Mashima S, Yotsumoto F, Tachibana T, Tanaka M, Togashi K, Haga H, Yamada T, Kosugi S, Inamoto T, Sugimoto M, Ogawa S, Toi M.
    • Cancer Sci. 2021 Aug;112(8):3338-3348. doi: 10.1111/cas.14986. Epub 2021 Jun 28.
    • 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
    • The other side of the coin: dissecting molecular mechanisms behind hereditary breast cancer in search of therapeutic opportunities.
    • Stella S, Martorana F, Manzella L, Vigneri P.
    • Transl Oncol. 2021 Aug;14(8):101104. doi: 10.1016/j.tranon.2021.101104. Epub 2021 May 13.

    Original research:

    Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women.

    Original research:

    A Population-Based Study of Genes Previously Implicated in Breast Cancer.

    • 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.
    • Identifying Sequence Variants of 18 Hereditary Ovarian Cancer-Associated Genes in Chinese Epithelial Ovarian Cancer Patients.
    • Wu X, Chen Z, Ren P, Zhao X, Tang D, Geng H, Xu X, Zhao W.
    • Biomed Res Int. 2021 Jul 24;2021:5579543. doi: 10.1155/2021/5579543.
    • 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.
    • 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.
    • 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.
    • Incidental findings from cancer next generation sequencing panels.
    • Maani N, Panabaker K, McCuaig JM, Buckley K, Semotiuk K, Farncombe KM, Ainsworth P, Panchal S, Sadikovic B, Armel SR, Lin H, Kim RH.
    • NPJ Genom Med. 2021 Jul 19;6(1):63. doi: 10.1038/s41525-021-00224-6.
    • 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.
    • Genetic Landscape of Male Breast Cancer.
    • Campos FAB, Rouleau E, Torrezan GT, Carraro DM, Casali da Rocha JC, Mantovani HK, da Silva LR, Osório CABT, Moraes Sanches S, Caputo SM, Santana Dos Santos E.
    • Cancers (Basel). 2021 Jul 15;13(14):3535. doi: 10.3390/cancers13143535.
    • 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.
    • A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.
    • Magraner-Pardo L, Laskowski RA, Pons T, Thornton JM.
    • Sci Rep. 2021 Jul 12;11(1):14268. doi: 10.1038/s41598-021-93715-6.
    • 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.
    • 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.
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    • JAMA Oncol. 2021 Jul 1;7(7):1045-1050. doi: 10.1001/jamaoncol.2021.1492.

    Research news: Study: Frequency of inherited mutations linked to breast cancer are similar in Black and white women. (FORCE. XRAY)

    Research news: UPenn Study Finds Similar Rates of Risk Mutations Among Black, White Breast Cancer Patients. (Precision Oncology News)

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

    Original research:

    Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.

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    • 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?

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    • Arshad S, Ishaque I, Mumtaz S, Rashid MU, Malkani N.
    • Biochem Genet. 2021 May 4. doi: 10.1007/s10528-021-10074-7. Epub ahead of print.
    • Lynch Syndrome in Thai Endometrial Cancer Patients.
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    • Asian Pac J Cancer Prev. 2021 May 1;22(5):1477-1483. doi: 10.31557/APJCP.2021.22.5.1477.
    • 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.
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    • Characteristics of Li-Fraumeni Syndrome in Japan; A Review Study by the Special Committee of JSHT.
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    • Further delineation of the NTHL1 associated syndrome: A report from the French Oncogenetic Consortium.
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    • Clin Genet. 2021 May;99(5):662-672. doi: 10.1111/cge.13925. Epub 2021 Feb 12.
    • Case report
    • Intronic Breakpoint Signatures Enhance Detection and Characterization of Clinically Relevant Germline Structural Variants.
    • van den Akker J, Hon L, Ondov A, Mahkovec Z, O'Connor R, Chan RC, Lock J, Zimmer AD, Rostamianfar A, Ginsberg J, Leon A, Topper S.
    • J Mol Diagn. 2021 May;23(5):612-629. doi: 10.1016/j.jmoldx.2021.01.015. Epub 2021 Feb 20.

    Press: More than 500 Structural Variants Linked to Hereditary Cancer and Cardiovascular Disorders Identified. (Clinical OMICs)

    • The ten genes for breast (and ovarian) cancer susceptibility.
    • Foulkes WD.
    • Nat Rev Clin Oncol. 2021 May;18(5):259-260. doi: 10.1038/s41571-021-00491-3.

    Original research:

    Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women.

    Original research:

    A Population-Based Study of Genes Previously Implicated in Breast Cancer.

    • The results of multigene panel sequencing in Slovak HBOC families.
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    • Neoplasma. 2021 May;68(3):652-664. doi: 10.4149/neo_2021_201204N1307. Epub 2021 Mar 17.
    • Age of ovarian cancer diagnosis among BRIP1, RAD51C, and RAD51D mutation carriers identified through multi-gene panel testing.
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    • 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.
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    • 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.
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    • Cancers (Basel). 2021 Apr 27;13(9):2106. doi: 10.3390/cancers13092106.
    • 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.
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    • NPJ Breast Cancer. 2021 Apr 23;7(1):46. doi: 10.1038/s41523-021-00254-4.
    • Genetic Variation and the Role of Multigene Panel Testing for Hereditary Breast Cancer: A Single-Institution Experience.
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    • Cureus. 2021 Apr 22;13(4):e14637. doi: 10.7759/cureus.14637.
    • 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.
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    • Front Oncol. 2021 Apr 20;11:663419. doi: 10.3389/fonc.2021.663419.
    • Fast Five Quiz: Breast Cancer Myths.
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    • Medscape. Drugs & Diseases. 2021 Apr 20.
    • A Case Report of Breast Implant-Associated Anaplastic Large-Cell Lymphoma in a PALB2 Mutation-Positive Woman.
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    • 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.
    • What Is New on Ovarian Carcinoma: Integrated Morphologic and Molecular Analysis Following the New 2020 World Health Organization Classification of Female Genital Tumors.
    • De Leo A, Santini D, Ceccarelli C, Santandrea G, Palicelli A, Acquaviva G, Chiarucci F, Rosini F, Ravegnini G, Pession A, Turchetti D, Zamagni C, Perrone AM, De Iaco P, Tallini G, de Biase D.
    • Diagnostics (Basel). 2021 Apr 14;11(4):697. doi: 10.3390/diagnostics11040697.
    • Germline Structural Variations in Cancer Predisposition Genes.
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    • Front Genet. 2021 Apr 14;12:634217. doi: 10.3389/fgene.2021.634217.
    • The Prevent Ovarian Cancer Program (POCP): Identification of women at risk for ovarian cancer using complementary recruitment approaches.
    • Tone AA, McCuaig JM, Ricker N, Boghosian T, Romagnuolo T, Stickle N, Virtanen C, Zhang T, Kim RH, Ferguson SE, May T, Laframboise S, Armel S, Demsky R, Volenik A, Stuart-McEwan T, Shaw P, Oza A, Kamel-Reid S, Stockley T, Bernardini MQ.
    • Gynecol Oncol. 2021 Apr 13:S0090-8258(21)00321-8. doi: 10.1016/j.ygyno.2021.04.011. Epub ahead of print.
    • 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.
    • Comprehensive analysis of germline mutations in northern Brazil: a panel of 16 genes for hereditary cancer-predisposing syndrome investigation.
    • Vidal AF, Ferraz RS, El-Husny A, Silva CS, Vinasco-Sandoval T, Magalhães L, Raiol-Moraes M, Barra WF, Pereira CLBL, de Assumpção PP, de Brito LM, Vialle RA, Santos S, Ribeiro-Dos-Santos Â, Ribeiro-Dos-Santos AM.
    • BMC Cancer. 2021 Apr 7;21(1):363. doi: 10.1186/s12885-021-08089-9.
    • Multigene assessment of genetic risk for women for two or more breast cancers.
    • Weitzel JN, Kidd J, Bernhisel R, Shehayeb S, Frankel P, Blazer KR, Turco D, Nehoray B, McGreevy K, Svirsky K, Brown K, Gardiner A, Daly M, Hughes E, Cummings S, Saam J, Slavin TP.
    • Breast Cancer Res Treat. 2021 Apr 7. doi: 10.1007/s10549-021-06201-y. Epub ahead of print.
    • 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.
    • 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.
    • Breast cancer in multiple endocrine neoplasia type 1 (MEN1).
    • Cheah SK, Bisambar CR, Pitfield D, Giger O, Hoopen RT, Martin JE, Clark GR, Park SM, Parkinson C, Challis BG, Casey RT.
    • Endocrinol Diabetes Metab Case Rep. 2021 Apr 1;2021:EDM200196. doi: 10.1530/EDM-20-0196. 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)

    • Tumor phenotype and concordance in synchronous bilateral breast cancer in young women.
    • Pak LM, Gaither R, Rosenberg SM, Ruddy KJ, Tamimi RM, Peppercorn J, Schapira L, Borges VF, Come SE, Warner E, Snow C, Collins LC, King TA, Partridge AH.
    • Breast Cancer Res Treat. 2021 Apr;186(3):815-821. doi: 10.1007/s10549-020-06027-0. Epub 2020 Nov 26.
    • 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.
    • Germline Mutations in Other Homologous Recombination Repair-Related Genes Than BRCA1/2: Predictive or Prognostic Factors?
    • Cortesi L, Piombino C, Toss A.
    • J Pers Med. 2021 Mar 28;11(4):245. doi: 10.3390/jpm11040245.

    Original research:

    TBCRC 048: Phase II Study of Olaparib for Metastatic Breast Cancer and Mutations in Homologous Recombination-Related Genes.

    Original research:

    Effect of Germline Mutations in Homologous Recombination Repair Genes on Overall Survival of Patients with Pancreatic Adenocarcinoma.

    • What’s Autism Got To Do With It?
    • [No author given]
    • My Gene Counsel. Genetic Journal. 2021 Mar 27.
    • 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
    • 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.
    • Candidate Markers of Olaparib Response from Genomic Data Analyses of Human Cancer Cell Lines.
    • Amuzu S, Carmona E, Mes-Masson AM, Greenwood CMT, Tonin PN, Ragoussis J.
    • Cancers (Basel). 2021 Mar 15;13(6):1296. doi: 10.3390/cancers13061296.
    • BRCA mutation rate and characteristics of prostate tumor in breast and ovarian cancer families: analysis of 6,591 Italian pedigrees.
    • Cortesi L, Domati F, Guida A, Marchi I, Toss A, Barbieri E, Marcheselli L, Venturelli M, Piana S, Cirilli C, Federico M.
    • Cancer Biol Med. 2021 Mar 12;18(2):470–6. doi: 10.20892/j.issn.2095-3941.2020.0481. 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.
    • Genetic Testing for Breast and Ovarian Cancer: What Has Changed and What Still Needs To Change?
    • Lyss AP.
    • Medscape. News & Perspective. 2021 Mar 8.

    Original research:

    Time Trends in Receipt of Germline Genetic Testing and Results for Women Diagnosed With Breast Cancer or Ovarian Cancer, 2012-2019.

    • 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.
    • Thai patients who fulfilled NCCN criteria for breast/ovarian cancer genetic assessment demonstrated high prevalence of germline mutations in cancer susceptibility genes: implication to Asian population testing.
    • Lertwilaiwittaya P, Roothumnong E, Nakthong P, Dungort P, Meesamarnpong C, Tansa-Nga W, Pongsuktavorn K, Wiboonthanasarn S, Tititumjariya W, Thongnoppakhun W, Chanprasert S, Limwongse C, Pithukpakorn M.
    • Breast Cancer Res Treat. 2021 Mar 1. doi: 10.1007/s10549-021-06152-4. Epub ahead of print.
    • Gene Sequencing for Pathogenic Variants Among Adults With Breast and Ovarian Cancer in the Caribbean.
    • George SHL, Donenberg T, Alexis C, DeGennaro V Jr, Dyer H, Yin S, Ali J, Butler R, Chin SN, Curling D, Lowe D, Lunn J, Turnquest T, Wharfe G, Cerbon D, Barreto-Coelho P, Schlumbrecht MP, Akbari MR, Narod SA, Hurley JE.
    • JAMA Netw Open. 2021 Mar 1;4(3):e210307. doi: 10.1001/jamanetworkopen.2021.0307.
    • Homologous recombination repair gene mutations show no survival benefits in Chinese high-grade serous ovarian cancer patients.
    • Feng Z, Wen H, Ju X, Bi R, Chen X, Yang W, Wu X.
    • Ann Transl Med. 2021 Mar;9(5):364. doi: 10.21037/atm-20-5136.
    • 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

    • Germline variants of Brazilian women with breast cancer and detection of a novel pathogenic ATM deletion in early-onset breast cancer.
    • Bandeira G, Rocha K, Lazar M, Ezquina S, Yamamoto G, Varela M, Takahashi V, Aguena M, Gollop T, Zatz M, Passos-Bueno MR, Krepischi A, Okamoto OK.
    • Breast Cancer. 2021 Mar;28(2):346-354. doi: 10.1007/s12282-020-01165-1. Epub 2020 Sep 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.
    • Prospective pan-cancer germline testing using MSK-IMPACT informs clinical translation in 751 patients with pediatric solid tumors.
    • Fiala EM, Jayakumaran G, Mauguen A, Kennedy JA, Bouvier N, Kemel Y, Fleischut MH, Maio A, Salo-Mullen EE, Sheehan M, Arnold AG, Latham A, Carlo MI, Cadoo K, Murkherjee S, Slotkin EK, Trippett T, Glade Bender J, Meyers PA, Wexler L, Dela Cruz FS, Cheung NK, Basu E, Kentsis A, Ortiz M, Francis JH, Dunkel IJ, Khakoo Y, Gilheeney S, Farouk Sait S, Forlenza CJ, Sulis M, Karajannis M, Modak S, Gerstle JT, Heaton TE, Roberts S, Yang C, Jairam S, Vijai J, Topka S, Friedman DN, Stadler ZK, Robson M, Berger MF, Schultz N, Ladanyi M, O'Reilly RJ, Abramson DH, Ceyhan-Birsoy O, Zhang L, Mandelker D, Shukla NN, Kung AL, Offit K, Zehir A, Walsh MF.
    • Nat Cancer. 2021 Mar;2:357-365. doi: 10.1038/s43018-021-00172-1. Epub 2021 Feb 15.

    Press: Study Demonstrates the Reasons to Screen Children with Cancer for Inherited Cancer Genes. (Memorial Sloan Kettering Cancer Center. News & Information.)

    Press: MSK Researchers Detail Inherited Cancer Risk in Pediatric Patients. (Clinical OMICs)

    • PALB2 Variants: Protein Domains and Cancer Susceptibility.
    • Nepomuceno TC, Carvalho MA, Rodrigue A, Simard J, Masson JY, Monteiro ANA.
    • Trends Cancer. 2021 Mar;7(3):188-197. doi: 10.1016/j.trecan.2020.10.002. Epub 2020 Nov 1.
    • Review
    • Assessment of genetic referrals and outcomes for women with triple negative breast cancer in regional cancer centres in Australia.
    • Hallenstein LG, Sorensen C, Hodgson L, Wen S, Westhuyzen J, Hansen C, Last ATJ, Amalaseelan JV, Salindera S, Ross W, Spigelman AD, Shakespeare TP, Aherne NJ.
    • Hered Cancer Clin Pract. 2021 Feb 26;19(1):19. doi: 10.1186/s13053-021-00176-z.
    • 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.
    • Germline molecular data in hereditary breast cancer in Brazil: Lessons from a large single-center analysis.
    • Sandoval RL, Leite ACR, Barbalho DM, Assad DX, Barroso R, Polidorio N, Dos Anjos CH, de Miranda AD, Ferreira ACSM, Fernandes GDS, Achatz MI.
    • PLoS One. 2021 Feb 19;16(2):e0247363. doi: 10.1371/journal.pone.0247363.
    • 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.
    • Functional interrogation of DNA damage response variants with base editing screens.
    • Cuella-Martin R, Hayward SB, Fan X, Chen X, Huang JW, Taglialatela A, Leuzzi G, Zhao J, Rabadan R, Lu C, Shen Y, Ciccia A.
    • Cell. 2021 Feb 18;184(4):1081-1097.e19. doi: 10.1016/j.cell.2021.01.041.
    • A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers.
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    Research news: Genetic Testing for Breast and Ovarian Cancer: What Has Changed and What Still Needs To Change? (Medscape)

    • Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women.
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    •• Editorial:

    Which Genes for Hereditary Breast Cancer?

    •• Commentary:

    The ten genes for breast (and ovarian) cancer susceptibility.

    •• Commentary:

    The other side of the coin: dissecting molecular mechanisms behind hereditary breast cancer in search of therapeutic opportunities.

    •• Press: Breast Cancer Risk Gene Associations Refined in Large-Scale Studies. (Precision Oncology News)

    •• Press: New Breast Cancer Mutation Findings Could Change Risk Management. (Medscape)

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    • N Engl J Med. 2021 Feb 4;384(5):440-451. doi: 10.1056/NEJMoa2005936. Epub 2021 Jan 20.

    •• Editorial:

    Which Genes for Hereditary Breast Cancer?

    •• Commentary:

    The ten genes for breast (and ovarian) cancer susceptibility.

    •• Commentary:

    The other side of the coin: dissecting molecular mechanisms behind hereditary breast cancer in search of therapeutic opportunities.

    •• Press: Breast Cancer Risk Gene Associations Refined in Large-Scale Studies. (Precision Oncology News)

    •• Press: New Breast Cancer Mutation Findings Could Change Risk Management. (Medscape)

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    Letter, Comment:

    Re: ERCC3, a new ovarian cancer susceptibility gene?

    Letter, Reply:

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

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    • Review
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    Research news: Gene Testing for Patients With Breast Cancer and Second Cancer. (Medscape)

    • Clinical implications of prospective genomic profiling of metastatic breast cancer patients.
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    • Breast Cancer Res Treat. 2020 Aug 18. doi: 10.1007/s10549-020-05872-3. Epub ahead of print.
    • Performance characteristics of screening strategies to identify Lynch syndrome in women with ovarian cancer.
    • Kim SR, Tone A, Kim RH, Cesari M, Clarke BA, Eiriksson L, 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.
    • Cancer. 2020 Aug 18. doi: 10.1002/cncr.33144. Epub ahead of print.
    • A pedigree-based prediction model identifies carriers of deleterious de novo mutations in families with Li-Fraumeni syndrome.
    • Gao F, Pan X, Dodd-Eaton EB, Recio CV, Montierth MD, Bojadzieva J, Mai PL, Zelley K, Johnson VE, Braun D, Nichols KE, Garber JE, Savage SA, Strong LC, Wang W.
    • Genome Res. 2020 Aug 18. doi: 10.1101/gr.249599.119. Epub ahead of print.
    • Prevalence of Recurrent Mutations Predisposing to Breast Cancer in Early-Onset Breast Cancer Patients from Poland.
    • Rogoza-Janiszewska E, Malinska K, Cybulski C, Jakubowska A, Gronwald J, Huzarski T, Lener M, Górski B, Kluzniak W, Rudnicka H, Akbari MR, Kashyap A, Narod SA, Lubinski J, Debniak T, On Behalf Of The Polish Hereditary Breast Cancer Consortium.
    • Cancers (Basel). 2020 Aug 17;12(8):2321. doi: 10.3390/cancers12082321.
    • Common susceptibility loci for male breast cancer.
    • Maguire S, Perraki E, Tomczyk K, Jones ME, Fletcher O, Pugh M, Winter T, Thompson K, Cooke R; kConFab Consortium, Trainer A, James P, Bojesen S, Flyger H, Nevanlinna H, Mattson J, Friedman E, Laitman Y, Palli D, Masala G, Zanna I, Ottini L, Silvestri V, Hollestelle A, Hooning MJ, Novakovic S, Krajc M, Gago-Dominguez M, Castelao JE, Olsson H, Hedenfalk I, Saloustros E, Georgoulias V, Easton DF, Pharoah P, Dunning AM, Bishop DT, Neuhausen SL, Steele L, Ashworth A, Closas MG, Houlston R, Swerdlow A, Orr N.
    • J Natl Cancer Inst. 2020 Aug 12:djaa101. doi: 10.1093/jnci/djaa101. Epub ahead of print.
    • Genetic Testing Challenges in Oncology: Assuming All Labs Are Equal Gives False Reassurance of Risk.
    • Ray T.
    • Precision Oncology News. 2020 Aug 6.
    • BRCA status assessment in epithelial ovarian cancer and the challenge of tumor testing.
    • Marchetti C, Minucci A, Pietragalla A, Scambia G, Fagotti A.
    • Int J Gynecol Cancer. 2020 Aug 4:ijgc-2020-001670. doi: 10.1136/ijgc-2020-001670. Epub ahead of print.

    Guidelines:

    Germline and Somatic Tumor Testing in Epithelial Ovarian Cancer: ASCO Guideline.

    • Germline Genetic Findings Which May Impact Therapeutic Decisions in Families with a Presumed Predisposition for Hereditary Breast and Ovarian Cancer.
    • Velázquez C, De Leeneer K, Esteban-Cardeñosa EM, Avila Cobos F, Lastra E, Abella LE, de la Cruz V, Lobatón CD, Claes KB, Durán M, Infante M.
    • Cancers (Basel). 2020 Aug 3;12(8):E2151. doi: 10.3390/cancers12082151.
    • Risk for breast cancer and management of unaffected individuals with non-BRCA hereditary breast cancer.
    • Wood ME, McKinnon W, Garber J.
    • Breast J. 2020 Aug 2. doi: 10.1111/tbj.13969. Epub ahead of print.
    • Review
    • Differences in cancer prevalence among CHEK2 carriers identified via multi-gene panel testing.
    • Sutcliffe EG, Stettner AR, Miller SA, Solomon SR, Marshall ML, Roberts ME, Susswein LR, Arvai KJ, Klein RT, Murphy PD, Hruska KS.
    • Cancer Genet. 2020 Aug 1;246-247:12-17. doi: 10.1016/j.cancergen.2020.07.001. Epub ahead of print.
    • Ancestry-specific hereditary cancer panel yields: Moving toward more personalized risk assessment.
    • Roberts ME, Susswein LR, Janice Cheng W, Carter NJ, Carter AC, Klein RT, Hruska KS, Marshall ML.
    • J Genet Couns. 2020 Aug;29(4):598-606. doi: 10.1002/jgc4.1257. Epub 2020 Mar 30.
    • European polygenic risk score for prediction of breast cancer shows similar performance in Asian women.
    • Ho WK, Tan MM, Mavaddat N, Tai MC, Mariapun S, Li J, Ho PJ, Dennis J, Tyrer JP, Bolla MK, Michailidou K, Wang Q, Kang D, Choi JY, Jamaris S, Shu XO, Yoon SY, Park SK, Kim SW, Shen CY, Yu JC, Tan EY, Chan PMY, Muir K, Lophatananon A, Wu AH, Stram DO, Matsuo K, Ito H, Chan CW, Ngeow J, Yong WS, Lim SH, Lim GH, Kwong A, Chan TL, Tan SM, Seah J, John EM, Kurian AW, Koh WP, Khor CC, Iwasaki M, Yamaji T, Tan KMV, Tan KTB, Spinelli JJ, Aronson KJ, Hasan SN, Rahmat K, Vijayananthan A, Sim X, Pharoah PDP, Zheng W, Dunning AM, Simard J, van Dam RM, Yip CH, Taib NAM, Hartman M, Easton DF, Teo SH, Antoniou AC.
    • Nat Commun. 2020 Jul 31;11(1):3833. doi: 10.1038/s41467-020-17680-w.
    • PEG3 mutation is associated with elevated tumor mutation burden and poor prognosis in breast cancer.
    • Zhang M, Zhang J.
    • Biosci Rep. 2020 Jul 30:BSR20201648. doi: 10.1042/BSR20201648. Epub ahead of print.
    • Literature Review of BARD1 as a Cancer Predisposing Gene with a Focus on Breast and Ovarian Cancers.
    • Alenezi WM, Fierheller CT, Recio N, Tonin PN.
    • Genes (Basel). 2020 Jul 27;11(8):E856. doi: 10.3390/genes11080856.
    • Population genetic screening efficiently identifies carriers of autosomal dominant diseases.
    • Grzymski JJ, Elhanan G, Morales Rosado JA, Smith E, Schlauch KA, Read R, Rowan C, Slotnick N, Dabe S, Metcalf WJ, Lipp B, Reed H, Sharma L, Levin E, Kao J, Rashkin M, Bowes J, Dunaway K, Slonim A, Washington N, Ferber M, Bolze A, Lu JT.
    • Nat Med. 2020 Jul 27. doi: 10.1038/s41591-020-0982-5. Epub ahead of print.
    • Comparison of Patient Susceptibility Genes Across Breast Cancer: Implications for Prognosis and Therapeutic Outcomes.
    • Peleg Hasson S, Menes T, Sonnenblick A.
    • Pharmgenomics Pers Med. 2020 Jul 27;13:227-238. doi: 10.2147/PGPM.S233485.
    • Olaparib for metastatic breast cancer in a patient with a germline PALB2 variant.
    • Kuemmel S, Harrach H, Schmutzler RK, Kostara A, Ziegler-Löhr K, Dyson MH, Chiari O, Reinisch M.
    • NPJ Breast Cancer. 2020 Jul 24;6:31. doi: 10.1038/s41523-020-00174-9.
    • Expectations of Surveillance for Non-BRCA Gene Mutation Carriers at Increased Risk for Breast Cancer.
    • Caskey R, Singletary B, Ayre K, Parker C, Krontiras H, Lancaster RB.
    • J Surg Res. 2020 Jul 23;256:267-271. doi: 10.1016/j.jss.2020.06.029. Epub ahead of print.
    • The Effects of Genetic and Epigenetic Alterations of BARD1 on the Development of Non-Breast and Non-Gynecological Cancers.
    • Watters AK, Seltzer ES, MacKenzie D Jr, Young M, Muratori J, Hussein R, Sodoma AM, To J, Singh M, Zhang D.
    • Genes (Basel). 2020 Jul 21;11(7):E829. doi: 10.3390/genes11070829.
    • Risk-Reducing Gynecological Surgery in Lynch Syndrome: Results of an International Survey from the Prospective Lynch Syndrome Database.
    • Dominguez-Valentin M, Seppälä TT, 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, Vidal JB, Kariv R, Rosner G, Piñero TA, Gonzalez ML, Kalfayan P, Sampson JR, Ryan NAJ, Evans DG, Møller P, Crosbie EJ.
    • J Clin Med. 2020 Jul 18;9(7):2290. doi: 10.3390/jcm9072290.
    • Protein-Protein interactions uncover candidate 'core genes' within omnigenic disease networks.
    • Ratnakumar A, Weinhold N, Mar JC, Riaz N.
    • PLoS Genet. 2020 Jul 17;16(7):e1008903. doi: 10.1371/journal.pgen.1008903. Epub ahead of print.
    • Shared genomic segment analysis with equivalence testing.
    • Horpaopan S, Fann CSJ, Lathrop M, Ott J.
    • Genet Epidemiol. 2020 Jul 16. doi: 10.1002/gepi.22335. Epub ahead of print.
    • Etiologic Index - A Case-Only Measure of BRCA1/2-Associated Cancer Risk.
    • Hughley R, Karlic R, Joshi H, Turnbull C, Foulkes WD, Polak P.
    • N Engl J Med. 2020 Jul 16;383(3):286-288. doi: 10.1056/NEJMc1913988.
    • Letter
    • Secondary Prevention in Hereditary Breast and/or Ovarian Cancer Syndromes Other Than BRCA.
    • Piombino C, Cortesi L, Lambertini M, Punie K, Grandi G, Toss A.
    • J Oncol. 2020 Jul 14;2020:6384190. doi: 10.1155/2020/6384190.
    • Histopathologic features of breast cancer in Li-Fraumeni syndrome.
    • Kuba MG, Lester SC, Bowman T, Stokes SM, Taneja KL, Garber JE, Dillon DA.
    • Mod Pathol. 2020 Jul 7. doi: 10.1038/s41379-020-0610-4. Epub ahead of print.
    • Improved structural variant interpretation for hereditary cancer susceptibility using long-read sequencing.
    • Thibodeau ML, O'Neill K, Dixon K, Reisle C, Mungall KL, Krzywinski M, Shen Y, Lim HJ, Cheng D, Tse K, Wong T, Chuah E, Fok A, Sun S, Renouf D, Schaeffer DF, Cremin C, Chia S, Young S, Pandoh P, Pleasance S, Pleasance E, Mungall AJ, Moore R, Yip S, Karsan A, Laskin J, Marra MA, Schrader KA, Jones SJM.
    • Genet Med. 2020 Jul 6. doi: 10.1038/s41436-020-0880-8. Epub ahead of print.
    • Breast cancer risk (un)awareness among women suffering from neurofibromatosis type 1 in Poland.
    • Karwacki MW.
    • Contemp Oncol (Pozn). 2020;24(2):140-144. doi: 10.5114/wo.2020.97637. Epub 2020 Jul 3.
    • A Case of Male Breast Cancer Patient with CHEK2*1100delC Mutation.
    • Nguyen QD, Tavana A, Saenz Rios F, Posleman Monetto FE, Robinson AS.
    • Cureus. 2020 Jul 2;12(7):e8972. doi: 10.7759/cureus.8972.
    • Women with inherited genetic mutations for breast cancer do not always receive treatment according to guidelines.
    • Printz C.
    • Cancer. 2020 Jul 1;126(13):2955. doi: 10.1002/cncr.32999.

    Original research:

    Association of Germline Genetic Testing Results With Locoregional and Systemic Therapy in Patients With Breast Cancer.

    • Association of a Polygenic Risk Score With Breast Cancer Among Women Carriers of High- and Moderate-Risk Breast Cancer Genes.
    • Gallagher S, Hughes E, Wagner S, Tshiaba P, Rosenthal E, Roa BB, Kurian AW, Domchek SM, Garber J, Lancaster J, Weitzel JN, Gutin A, Lanchbury JS, Robson M.
    • JAMA Netw Open. 2020 Jul 1;3(7):e208501. doi: 10.1001/jamanetworkopen.2020.8501.

    Research news: Polygenic Risk Score Modifies Breast Cancer Risk in Pathogenic Variant Carriers. (GenomeWeb)

    • Young Adults With Early Onset Cancer May Benefit From Genetic Testing.
    • Brooks M.
    • Medscape. Medscape Oncology/Reuters Health. 2020 Jul 1.
    • Genetic Testing Challenges in Oncology: Lynch Syndrome Patient Has Ovaries, Uterus Removed at Age 22.
    • Ray T.
    • Precision Oncology News. 2020 Jul 1.
    • An overview of cancer genetics with focus on involvement of BRCA1/2 genes in breast carcinomas.
    • Tahir DE, Rehman MS, Rehman MU.
    • J Pak Med Assoc. 2020 Jul;70(7):1240-1247. doi: 10.5455/JPMA.20351.
    • New germline mutations in non-BRCA genes among breast cancer women of Mongoloid origin.
    • Gervas P, Molokov A, Schegoleva A, Kiselev A, Babyshkina N, Pisareva L, Tyukalov Y, Choynzonov E, Cherdyntseva N.
    • Mol Biol Rep. 2020 Jun 29. doi: 10.1007/s11033-020-05612-2. Epub ahead of print.
    • DNA Repair and Ovarian Carcinogenesis: Impact on Risk, Prognosis and Therapy Outcome.
    • Tomasova K, Cumova A, Seborova K, Horak J, Koucka K, Vodickova L, Vaclavikova R, Vodicka P.
    • Cancers (Basel). 2020 Jun 28;12(7):E1713. doi: 10.3390/cancers12071713.
    • Biomarkers in Triple-Negative Breast Cancer: State-of-the-Art and Future Perspectives.
    • Cocco S, Piezzo M, Calabrese A, Cianniello D, Caputo R, Lauro VD, Fusco G, Gioia GD, Licenziato M, Laurentiis M.
    • Int J Mol Sci. 2020 Jun 27;21(13):E4579. doi: 10.3390/ijms21134579.
    • Malignant fibroadenoma with CHEK2 mutation: a novel case.
    • Ching D, Pirasteh S, Vora B, Martin R, Gill J.
    • Pathology. 2020 Jun 27:S0031-3025(20)30829-1. doi: 10.1016/j.pathol.2020.04.009. Epub ahead of print.
    • Letter, Case report
    • MSK Researches Find High Prevalence of Germline Mutations in Patients With Early-Onset Cancers.
    • Hopkins C.
    • GenomeWeb. 2020 Jun 22.
    • UKCGG Consensus Group guidelines for the management of patients with constitutional TP53 pathogenic variants.
    • Hanson H, Brady AF, Crawford G, Eeles RA, Gibson S, Jorgensen M, Izatt L, Sohaib A, Tischkowitz M, Evans DG; Consensus Group Members.
    • J Med Genet. 2020 Jun 22:jmedgenet-2020-106876. doi: 10.1136/jmedgenet-2020-106876. Epub ahead of print.
    • Study: Promising research using a PARP inhibitor to treat metastatic breast cancer in people with an inherited PALB2 mutation or a tumor mutation in a gene that repairs DNA damage.
    • [No author given]
    • FORCE. XRAYS. 2020 Jun 18.

    Conference abstract:

    TBCRC 048: A phase II study of olaparib monotherapy in metastatic breast cancer patients with germline or somatic mutations in DNA damage response (DDR) pathway genes (Olaparib Expanded).

    • CHEK2 Mutation in Patient with Multiple Endocrine Glands Tumors. Case Report.
    • Szeliga A, Pralat A, Witczak W, Podfigurna A, Wojtyla C, Kostrzak A, Meczekalski B.
    • Int J Environ Res Public Health. 2020 Jun 18;17(12):E4397. doi: 10.3390/ijerph17124397.
    • Hereditary Gastric and Breast Cancer Syndromes Related to CDH1 Germline Mutation: A Multidisciplinary Clinical Review.
    • Corso G, Montagna G, Figueiredo J, La Vecchia C, Fumagalli Romario U, Fernandes MS, Seixas S, Roviello F, Trovato C, Guerini-Rocco E, Fusco N, Pravettoni G, Petrocchi S, Rotili A, Massari G, Magnoni F, De Lorenzi F, Bottoni M, Galimberti V, Sanches JM, Calvello M, Seruca R, Bonanni B.
    • Cancers (Basel). 2020 Jun 17;12(6):E1598. doi: 10.3390/cancers12061598.
    • Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer.
    • Song H, Dicks EM, Tyrer J, Intermaggio M, Chenevix-Trench G, Bowtell DD, Traficante N, Group A, Brenton J, Goranova T, Hosking K, Piskorz A, van Oudenhove E, Doherty J, Harris HR, Rossing MA, Duerst M, Dork T, Bogdanova NV, Modugno F, Moysich K, Odunsi K, Ness R, Karlan BY, Lester J, Jensen A, Krüger Kjaer S, Høgdall E, Campbell IG, Lázaro C, Pujara MA, Cunningham J, Vierkant R, Winham SJ, Hildebrandt M, Huff C, Li D, Wu X, Yu Y, Permuth JB, Levine DA, Schildkraut JM, Riggan MJ, Berchuck A, Webb PM, Group OS, Cybulski C, Gronwald J, Jakubowska A, Lubinski J, Alsop J, Harrington P, Chan I, Menon U, Pearce CL, Wu AH, de Fazio A, Kennedy CJ, Goode E, Ramus S, Gayther S, Pharoah P.
    • J Med Genet. 2020 Jun 16:jmedgenet-2019-106739. doi: 10.1136/jmedgenet-2019-106739. Epub ahead of print.
    • Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk.
    • Liu J, Prager-van der Smissen WJC, Collée JM, Bolla MK, Wang Q, Michailidou K, Dennis J, Ahearn TU, Aittomäki K, Ambrosone CB, Andrulis IL, Anton-Culver H, Antonenkova NN, Arndt V, Arnold N, Aronson KJ, Augustinsson A, Auvinen P, Becher H, Beckmann MW, Behrens S, Bermisheva M, Bernstein L, Bogdanova NV, Bogdanova-Markov N, Bojesen SE, Brauch H, Brenner H, Briceno I, Brucker SY, Brüning T, Burwinkel B, Cai Q, Cai H, Campa D, Canzian F, Castelao JE, Chang-Claude J, Chanock SJ, Choi JY, Christiaens M, Clarke CL; NBCS Collaborators, Couch FJ, Czene K, Daly MB, Devilee P, Dos-Santos-Silva I, Dwek M, Eccles DM, Eliassen AH, Fasching PA, Figueroa J, Flyger H, Fritschi L, Gago-Dominguez M, Gapstur SM, García-Closas M, García-Sáenz JA, Gaudet MM, Giles GG, Goldberg MS, Goldgar DE, Guénel P, Haiman CA, Håkansson N, Hall P, Harrington PA, Hart SN, Hartman M, Hillemanns P, Hopper JL, Hou MF, Hunter DJ, Huo D; ABCTB Investigators, Ito H, Iwasaki M, Jakimovska M, Jakubowska A, John EM, Kaaks R, Kang D, Keeman R, Khusnutdinova E, Kim SW, Kraft P, Kristensen VN, Kurian AW, Le Marchand L, Li J, Lindblom A, Lophatananon A, Luben RN, Lubinski J, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Mariapun S, Matsuo K, Maurer T, Mavroudis D, Meindl A, Menon U, Milne RL, Muir K, Mulligan AM, Neuhausen SL, Nevanlinna H, Offit K, Olopade OI, Olson JE, Olsson H, Orr N, Park SK, Peterlongo P, Peto J, Plaseska-Karanfilska D, Presneau N, Rack B, Rau-Murthy R, Rennert G, Rennert HS, Rhenius V, Romero A, Ruebner M, Saloustros E, Schmutzler RK, Schneeweiss A, Scott C, Shah M, Shen CY, Shu XO, Simard J, Sohn C, Southey MC, Spinelli JJ, Tamimi RM, Tapper WJ, Teo SH, Terry MB, Torres D, Truong T, Untch M, Vachon CM, van Asperen CJ, Wolk A, Yamaji T, Zheng W, Ziogas A, Ziv E, Torres-Mejía G, Dörk T, Swerdlow AJ, Hamann U, Schmidt MK, Dunning AM, Pharoah PDP, Easton DF, Hooning MJ, Martens JWM, Hollestelle A.
    • Sci Rep. 2020 Jun 16;10(1):9688. doi: 10.1038/s41598-020-65665-y.
    • Prevalence of disease-causing genes in Japanese patients with BRCA1/2-wildtype hereditary breast and ovarian cancer syndrome.
    • Kaneyasu T, Mori S, Yamauchi H, Ohsumi S, Ohno S, Aoki D, Baba S, Kawano J, Miki Y, Matsumoto N, Nagasaki M, Yoshida R, Akashi-Tanaka S, Iwase T, Kitagawa D, Masuda K, Hirasawa A, Arai M, Takei J, Ide Y, Gotoh O, Yaguchi N, Nishi M, Kaneko K, Matsuyama Y, Okawa M, Suzuki M, Nezu A, Yokoyama S, Amino S, Inuzuka M, Noda T, Nakamura S.
    • NPJ Breast Cancer. 2020 Jun 12;6(1):25. doi: 10.1038/s41523-020-0163-1.
    • Prevalence of disease-causing genes in Japanese patients with BRCA1/2-wildtype hereditary breast and ovarian cancer syndrome.
    • Kaneyasu T, Mori S, Yamauchi H, Ohsumi S, Ohno S, Aoki D, Baba S, Kawano J, Miki Y, Matsumoto N, Nagasaki M, Yoshida R, Akashi-Tanaka S, Iwase T, Kitagawa D, Masuda K, Hirasawa A, Arai M, Takei J, Ide Y, Gotoh O, Yaguchi N, Nishi M, Kaneko K, Matsuyama Y, Okawa M, Suzuki M, Nezu A, Yokoyama S, Amino S, Inuzuka M, Noda T, Nakamura S.
    • NPJ Breast Cancer. 2020 Jun 12;6:25. doi: 10.1038/s41523-020-0163-1.
    • Validation of a next generation sequencing assay for BRCA1, BRCA2, CHEK2 and PALB2 genetic testing.
    • Sim WC, Lee CY, Richards R, Karolien B, Mottier V, Goh LL.
    • Exp Mol Pathol. 2020 Jun 9:104483. doi: 10.1016/j.yexmp.2020.104483. Epub ahead of print.
    • Development and Validation of a Clinical Polygenic Risk Score to Predict Breast Cancer Risk.
    • Hughes E, Tshiaba P, Gallagher S, Wagner S, Judkins T, Roa B, Rosenthal E, Domchek S, Garber J, Lancaster J, Weitzel J, Kurian AW, Lanchbury JS, Gutin A, Robson M.
    • JCO Precis Oncol. 2020 Jun 8;4:PO.19.00360. doi: 10.1200/PO.19.00360.
    • Germline Genetic Mutations in a Multi-center Contemporary Cohort of 550 Phyllodes Tumors: An Opportunity for Expanded Multi-gene Panel Testing.
    • Rosenberger LH, Thomas SM, Nimbkar SN, Hieken TJ, Ludwig KK, Jacobs LK, Miller ME, Gallagher KK, Wong J, Neuman HB, Tseng J, Hassinger TE, Jakub JW.
    • Ann Surg Oncol. 2020 Jun 5. doi: 10.1245/s10434-020-08480-z. Epub ahead of print.
    • RECQ1 Helicase in Genomic Stability and Cancer.
    • Debnath S, Sharma S.
    • Genes (Basel). 2020 Jun 5;11(6):E622. doi: 10.3390/genes11060622.
    • Review
    • Setting a baseline: A 7-year review of referral rates and outcomes for serous ovarian cancer prior to implementation of oncologist mediated genetic testing.
    • Armel SR, Volenik A, Demsky R, Malcolmson J, Maganti M, McCuaig J.
    • Gynecol Oncol. 2020 Jun 3:S0090-8258(20)31082-9. doi: 10.1016/j.ygyno.2020.05.014. Epub ahead of print.
    • Frequency of heterozygous germline pathogenic variants in genes for Fanconi anemia in patients with non-BRCA1/BRCA2 breast cancer: a meta-analysis.
    • Alter BP, Best AF.
    • Breast Cancer Res Treat. 2020 Jun 2. doi: 10.1007/s10549-020-05710-6. Epub ahead of print.
    • Suggested application of HER2+ breast tumor phenotype for germline TP53 variant classification within ACMG/AMP guidelines.
    • Fortuno C, Mester J, Pesaran T, Weitzel JN, Dolinsky J, Yussuf A, McGoldrick K, Garber JE, Savage SA, Khincha PP, Gareth Evans D, Achatz MI, Nichols KE, Maxwell K, Schiffman JD, Sandoval R; Li-Fraumeni Exploration (LIFE) Consortium, James PA, Spurdle AB.
    • Hum Mutat. 2020 Jun 2. doi: 10.1002/humu.24060. Epub ahead of print.
    • Evaluating the Utility of Polygenic Risk Scores in Identifying High-Risk Individuals for Eight Common Cancers.
    • Jia G, Lu Y, Wen W, Long J, Liu Y, Tao R, Li B, Denny JC, Shu XO, Zheng W.
    • JNCI Cancer Spectr. 2020 Mar 12;4(3):pkaa021. doi: 10.1093/jncics/pkaa021. eCollection 2020 Jun.
    • Polygenic Risk Score, Family History Refine Breast Cancer Risk Assessment in CHEK2 Mutation Carriers.
    • Anderson A.
    • Precision Oncology News. 2020 May 31.
    • Lynch Syndrome Germline Mutations in Breast Cancer: Next Generation Sequencing Case-Control Study of 1,263 Participants.
    • Nikitin AG, Chudakova DA, Enikeev RF, Sakaeva D, Druzhkov M, Shigapova LH, Brovkina OI, Shagimardanova EI, Gusev OA, Gordiev MG.
    • Front Oncol. 2020 May 29;10:666. doi: 10.3389/fonc.2020.00666.
    • Genetic Testing and Screening Recommendations for Patients with Hereditary Breast Cancer.
    • Bharucha PP, Chiu KE, François FM, Scott JL, Khorjekar GR, Tirada NP.
    • Radiographics. 2020 May 29:190181. doi: 10.1148/rg.2020190181. Epub ahead of print.
    • Review

    Commentary:

    Invited Commentary: Breast Cancer Risk Assessment and Screening Strategies-What's New?

    • Microsatellite instability and mismatch repair protein expressions in lymphocyte-predominant breast cancer.
    • Horimoto Y, Thinzar Hlaing M, Saeki H, Kitano S, Nakai K, Sasaki R, Kurisaki-Arakawa A, Arakawa A, Otsuji N, Matsuoka S, Tokuda E, Arai M, Saito M.
    • Cancer Sci. 2020 May 24. doi: 10.1111/cas.14500. Epub ahead of print.
    • Germline Mutation in MUS81 Resulting in Impaired Protein Stability is Associated with Familial Breast and Thyroid Cancer.
    • Pinheiro M, Lupinacci FCS, Santiago KM, Drigo SA, Marchi FA, Fonseca-Alves CE, Andrade SCDS, Aagaard MM, Basso TR, Dos Reis MB, Villacis RAR, Roffé M, Hajj GNM, Jurisica I, Kowalski LP, Achatz MI, Rogatto SR.
    • Cancers (Basel). 2020 May 20;12(5):E1289. doi: 10.3390/cancers12051289.
    • Uptake of oophorectomy in women with findings on multigene panel testing: Results from the Prospective Registry of Multiplex Testing (PROMPT).
    • Domchek SM, Brower J, Symecko H, Marcell V, Walsh MF, Hamilton JG, Couch F, Offit K, Garber JE, Robson ME.
    • J Clin Oncol. 2020 May 20;38(15 Suppl):1508-1508. doi: 10.1200/JCO.2020.38.15_suppl.1508. Epub 2020 May 25.
    • Conference abstract
    • Comparison of mutation profile between primary phyllodes tumors of the breast and their paired local recurrences.
    • Mitus J, Adamczyk A, Majchrzyk K, Kowalik A, Rys J, Niemiec J.
    • Pol J Pathol. 2020 May 20;71(1):7-12. doi: 10.5114/pjp.2020.94899.
    • Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses.
    • Zhang H, Ahearn TU, Lecarpentier J, Barnes D, Beesley J, Qi G, Jiang X, et al.
    • Nat Genet. 2020 May 18. doi: 10.1038/s41588-020-0609-2. Epub ahead of print.

    Research news: Breast Cancer Susceptibility GWAS Highlights Dozens New Loci, Some Subtype-Specific. (GenomeWeb)

    Research news: Analysis of 100 Studies Reveals 32 New Sites of Genetic Variation Linked to Breast Cancer. (Clinical OMICS)

    • Biallelic NF1 inactivation in high grade serous ovarian cancers from patients with neurofibromatosis type 1.
    • Courtney E, Chan SH, Li ST, Ishak D, Merchant K, Shaw T, Chay WY, Chin FHX, Wong WL, Wong A, Ngeow J.
    • Fam Cancer. 2020 May 13. doi: 10.1007/s10689-020-00184-3. Epub ahead of print.
    • Case report
    • A commentary on germline mutations of multiple breast cancer-related genes are differentially associated with triple-negative breast cancers and prognostic factors.
    • Kaname T.
    • J Hum Genet. 2020 May 11. doi: 10.1038/s10038-020-0767-1. Epub ahead of print.

    Original research:

    Germline mutations of multiple breast cancer-related genes are differentially associated with triple-negative breast cancers and prognostic factors.

    • Clustering of known low and moderate risk alleles rather than a novel recessive high-risk gene in non-BRCA1/2 sib trios affected with breast cancer.
    • Hilbers FS, van 't Hof PJ, Meijers CM, Mei H, Michailidou K, Dennis J, Hogervorst FBL, Nederlof PM, van Asperen CJ, Devilee P.
    • Int J Cancer. 2020 May 7. doi: 10.1002/ijc.33039. [Epub ahead of print]
    • Germline RBBP8 variants associated with early-onset breast cancer compromise replication fork stability.
    • Zarrizi R, Higgs MR, Voßgröne K, Rossing M, Bertelsen B, Bose M, Kousholt AN, Rösner HI, Ejlertsen B, Stewart GS, Nielsen FC, Sørensen C.
    • J Clin Invest. 2020 May 7. pii: 127521. doi: 10.1172/JCI127521. [Epub ahead of print]
    • Pathogenic Variants in CHEK2 Are Associated With an Adverse Prognosis in Symptomatic Early-Onset Breast Cancer.
    • Greville-Heygate SL, Maishman T, Tapper WJ, Cutress RI, Copson E, Dunning AM, Haywood L, Jones LJ, Eccles DM.
    • JCO Precis Oncol. 2020 May 4;4:PO.19.00178. doi: 10.1200/PO.19.00178.
    • Combined associations of a polygenic risk score and classical risk factors with breast cancer risk.
    • Kapoor PM, Mavaddat N, Choudhury PP, Wilcox AN, Lindström S, Behrens S, Michailidou K, Dennis J, Bolla MK, Wang Q, Jung A, Abu-Ful Z, Ahearn T, Andrulis IL, Anton-Culver H, Arndt V, Aronson KJ, Auer PL, Freeman LEB, Becher H, Beckmann MW, Beeghly-Fadiel A, Benitez J, Bernstein L, Bojesen SE, Brauch H, Brenner H, Brüning T, Cai Q, Campa D, Canzian F, Carracedo A, Carter BD, Castelao JE, Chanock SJ, Chatterjee N, Chenevix-Trench G, Clarke CL, Couch FJ, Cox A, Cross SS, Czene K, Dai JY, Earp HS, Ekici AB, Eliassen AH, Eriksson M, Evans DG, Fasching PA, Figueroa J, Fritschi L, Gabrielson M, Gago-Dominguez M, Gao C, Gapstur SM, Gaudet MM, Giles GG, González-Neira A, Guénel P, Haeberle L, Haiman CA, Håkansson N, Hall P, Hamann U, Hatse S, Heyworth J, Holleczek B, Hoover RN, Hopper JL, Howell A, Hunter DJ; ABCTB Investigators; kConFab/AOCS Investigators, John EM, Jones ME, Kaaks R, Keeman R, Kitahara CM, Ko YD, Koutros S, Kurian AW, Lambrechts D, Marchand LL, Lee E, Lejbkowicz F, Linet M, Lissowska J, Llaneza A, MacInnis RJ, Martinez ME, Maurer T, McLean C, Neuhausen SL, Newman WG, Norman A, O'Brien KM, Olshan AF, Olson JE, Olsson H, Orr N, Perou CM, Pita G, Polley EC, Prentice RL, Rennert G, Rennert HS, Ruddy KJ, Sandler DP, Saunders C, Schoemaker MJ, Schöttker B, Schumacher F, Scott C, Scott RJ, Shu XO, Smeets A, Southey MC, Spinelli JJ, Stone J, Swerdlow AJ, Tamimi RM, Taylor JA, Troester MA, Vachon CM, van Veen EM, Wang X, Weinberg CR, Weltens C, Willett W, Winham SJ, Wolk A, Yang XR, Zheng W, Ziogas A, Dunning AM, Pharoah PDP, Schmidt MK, Kraft P, Easton DF, Milne RL, García-Closas M, Chang-Claude J.
    • J Natl Cancer Inst. 2020 May 2. pii: djaa056. doi: 10.1093/jnci/djaa056. [Epub ahead of print]
    • BRIP1, RAD51C, and RAD51D mutations are associated with high susceptibility to ovarian cancer: mutation prevalence and precise risk estimates based on a pooled analysis of ~30,000 cases.
    • Suszynska M, Ratajska M, Kozlowski P.
    • J Ovarian Res. 2020 May 2;13(1):50. doi: 10.1186/s13048-020-00654-3.
    • Male Breast Cancer: Results of the Application of Multigene Panel Testing to an Italian Cohort of Patients.
    • Tedaldi G, Tebaldi M, Zampiga V, Cangini I, Pirini F, Ferracci E, Danesi R, Arcangeli V, Ravegnani M, Martinelli G, Falcini F, Ulivi P, Calistri D.
    • Diagnostics (Basel). 2020 Apr 30;10(5). pii: E269. doi: 10.3390/diagnostics10050269.
    • Spectrum of PALB2 germline mutations and characteristics of PALB2-related breast cancer: Screening of 16,501 unselected patients with breast cancer and 5890 controls by next-generation sequencing.
    • Zhou J, Wang H, Fu F, Li Z, Feng Q, Wu W, Liu Y, Wang C, Chen Y.
    • Cancer. 2020 Apr 27. doi: 10.1002/cncr.32905. [Epub ahead of print]
    • Primary fallopian tube carcinoma (PFTC) in a BRIP-1 mutation carrier: the first case report.
    • Grandi G, Caroli M, Alboni C, Cortesi L, Toss A, Barbieri E, Botticelli L, Facchinetti F.
    • Fam Cancer. 2020 Apr 24. doi: 10.1007/s10689-020-00179-0. [Epub ahead of print]
    • Case report
    • Broadening risk profile in familial colorectal cancer type X; increased risk for five cancer types in the national Danish cohort.
    • Therkildsen C, Rasmussen M, Smith-Hansen L, Kallemose T, Lindberg LJ, Nilbert M.
    • BMC Cancer. 2020 Apr 22;20(1):345. doi: 10.1186/s12885-020-06859-5.
    • Evaluation of pathogenetic mutations in breast cancer predisposition genes in population-based studies conducted among Chinese women.
    • Zeng C, Guo X, Wen W, Shi J, Long J, Cai Q, Shu XO, Xiang Y, Zheng W.
    • Breast Cancer Res Treat. 2020 Apr 21. doi: 10.1007/s10549-020-05643-0. [Epub ahead of print]
    • Gene-to-gene interactions and the association of TP53, XRCC1, TNFa, HMMR, MDM2 and PALB2 with breast cancer in Kyrgyz females.
    • Isakova JT, Vinnikov D, Kipen VN, Talaibekova ET, Aldashev AA, Aldasheva NM, Makieva KB, Semetei Kyzy A, Bukuev NM, Tilekov EA, Shaimbetov BO, Kudaibergenova IO.
    • Breast Cancer. 2020 Apr 15. doi: 10.1007/s12282-020-01092-1. [Epub ahead of print]
    • Tumor sequencing is useful to refine the analysis of germline variants in unexplained high-risk breast cancer families.
    • Van Marcke C, Helaers R, De Leener A, Merhi A, Schoonjans , Ambroise J, Galant C, Delrée P, Rothé F, Bar I, Khoury E, Brouillard P, Canon JL, Vuylsteke P, Machiels JP, Berlière M, Limaye N, Vikkula M, Duhoux FP.
    • Breast Cancer Res. 2020 Apr 15;22(1):36. doi: 10.1186/s13058-020-01273-y.
    • Analysis of Epigenetic Alterations in Homologous Recombination DNA Repair Genes in Male Breast Cancer.
    • André S, P Nunes S, Silva F, Henrique R, Félix A, Jerónimo C.
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    • Germline APOBEC3B deletion influences clinicopathological parameters in luminal-A breast cancer: evidences from a southern Brazilian cohort.
    • Vitiello GAF, de Sousa Pereira N, Amarante MK, Banin-Hirata BK, Campos CZ, de Oliveira KB, Losi-Guembarovski R, Watanabe MAE.
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    • Germline and Somatic Tumor Testing in Epithelial Ovarian Cancer: ASCO Guideline.
    • Konstantinopoulos PA, Norquist B, Lacchetti C, Armstrong D, Grisham RN, Goodfellow PJ, Kohn EC, Levine DA, Liu JF, Lu KH, Sparacio D, Annunziata CM.
    • J Clin Oncol. 2020 Apr 10;38(11):1222-1245. doi: 10.1200/JCO.19.02960. Epub 2020 Jan 27.

    Commentary:

    BRCA status assessment in epithelial ovarian cancer and the challenge of tumor testing.

    • Analysis of BRCA1 and RAD51C Promoter Methylation in Italian Families at High-Risk of Breast and Ovarian Cancer.
    • Tabano S, Azzollini J, Pesenti C, Lovati S, Costanza J, Fontana L, Peissel B, Miozzo M, Manoukian S.
    • Cancers (Basel). 2020 Apr 8;12(4). pii: E910. doi: 10.3390/cancers12040910.
    • Optimal age for genetic cancer predisposition testing in hereditary SMARCA4 Ovarian Cancer Families: How young is too young?
    • Podwika SE, Jenkins TM, Khokhar JK, Erickson SH, Modesitt SC.
    • Gynecol Oncol Rep. 2020 Apr 7;32:100569. doi: 10.1016/j.gore.2020.100569. eCollection 2020 May.
    • Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes.
    • Subramanian DN, Zethoven M, McInerny S, Morgan JA, Rowley SM, Lee JEA, Li N, Gorringe KL, James PA, Campbell IG.
    • Nat Commun. 2020 Apr 2;11(1):1640. doi: 10.1038/s41467-020-15461-z.
    • Investigating the Link between Lynch Syndrome and Breast Cancer.
    • Sheehan M, Heald B, Yanda C, Kelly ED, Grobmyer S, Eng C, Kalady M, Pederson H.
    • Eur J Breast Health. 2020 Apr 1;16(2):106-109. doi: 10.5152/ejbh.2020.5198. eCollection 2020 Apr.
    • Bilateral Paget's Disease of the Breast in a Patient with CHEK2 Mutation.
    • Owusu-Brackett N, Menon PD, Nazarullah A, Jatoi I, Elmi M.
    • Eur J Breast Health. 2020 Apr 1;16(2):152-154. doi: 10.5152/ejbh.2020.5568. eCollection 2020 Apr.
    • Fast Five Quiz: How Much Do You Know About the Genetics of Breast Cancer?
    • Markman M.
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    • Clinical Impact of Somatic Variants in Homologous Recombination Repair-Related Genes in Ovarian High-Grade Serous Carcinoma.
    • Choi MC, Hwang S, Kim S, Jung SG, Park H, Joo WD, Song SH, Lee C, Kim TH, Kang H, An HJ.
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    • Missense PALB2 germline variant disrupts nuclear localization of PALB2 in a patient with breast cancer.
    • Toh MR, Low CE, Chong ST, Chan SH, Ishak NDB, Courtney E, Kolinjivadi AM Rodrigue A, Masson JY, Ngeow J.
    • Fam Cancer. 2020 Apr;19(2):123-131. doi: 10.1007/s10689-020-00163-8.
    • Case report
    • Facilitated referral pathway for genetic testing at the time of ovarian cancer diagnosis: uptake of genetic counseling and testing and impact on patient-reported stress, anxiety and depression.
    • Frey MK, Lee SS, Gerber D, Schwartz ZP, Martineau J, Lutz K, Reese E, Dalton E, Olsen A, Girdler J, Pothuri B, Boyd L, Curtin JP, Levine DA, Blank SV.
    • Gynecol Oncol. 2020 Apr;157(1):280-286. doi: 10.1016/j.ygyno.2020.01.007. Epub 2020 Feb 11.
    • Germline Mutation in 1338 BRCA-Negative Chinese Hereditary Breast and/or Ovarian Cancer Patients: Clinical Testing with a Multigene Test Panel.
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    • PALB2 Genetic Variants: Can Functional Assays Assist Translation?
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    • Review
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    • Review, [Article in French]
    • Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients.
    • Del Valle J, Rofes P, Moreno-Cabrera JM, López-Dóriga A, Belhadj S, Vargas-Parra G, Teulé À, Cuesta R, Muñoz X, Campos O, Salinas M, de Cid R, Brunet J, González S, Capellá G, Pineda M, Feliubadaló L, Lázaro C.
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    • Pathologic findings and clinical outcomes in women undergoing risk-reducing surgery to prevent ovarian and fallopian tube carcinoma: A large prospective single institution experience.
    • Rush SK, Swisher EM, Garcia RL, Pennington KP, Agnew KJ, Kilgore MR, Norquist BM.
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    • Frequency of mutations in BRCA genes and other candidate genes in high-risk probands or probands with breast or ovarian cancer in the Czech Republic.
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    • The RAD52-S346X variant reduces risk of developing breast cancer in carriers of pathogenic germline BRCA2 mutations.
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    • Mol Oncol. 2020 Mar 16. doi: 10.1002/1878-0261.12665. [Epub ahead of print]
    • ATM-Deficient Cancers Provide New Opportunities for Precision Oncology.
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    • Cancers (Basel). 2020 Mar 14;12(3). pii: E687. doi: 10.3390/cancers12030687.
    • Lack of evidence for CDK12 as an ovarian cancer predisposing gene.
    • Eeckhoutte A, Saint-Ghislain M, Reverdy M, Raynal V, Baulande S, Bataillon G, Golmard L, Stoppa-Lyonnet D, Popova T, Houdayer C, Manié E, Stern MH.
    • Fam Cancer. 2020 Mar 14. doi: 10.1007/s10689-020-00169-2. [Epub ahead of print]
    • Small Cell Carcinoma of the Ovary, Hypercalcaemic Type - genetics, new treatment targets and current management guidelines.
    • Tischkowitz M, Huang S, Banerjee S, Hague J, Hendricks WPD, Huntsman DG, Lang JD, Orlando KA, Oza AM, Pautier P, Ray-Coquard I, Trent JM, Wichter M, Witkowski L, McCluggage WG, Levine DA, Foulkes WD, Weissman BE.
    • Clin Cancer Res. 2020 Mar 10. pii: clincanres.3797.2019. doi: 10.1158/1078-0432.CCR-19-3797. [Epub ahead of print]
    • Prevalence of Pathogenic Variants in Cancer Susceptibility Genes Among Women With Postmenopausal Breast Cancer.
    • Kurian AW, Bernhisel R, Larson K, Caswell-Jin JL, Shadyab AH, Ochs-Balcom H, Stefanick ML.
    • JAMA. 2020 Mar 10;323(10):995-997. doi: 10.1001/jama.2020.0229.

    Press: Inherited Mutations in Postmenopausal Breast Cancer Patients Suggest Genetic Testing Is Warranted. (GenomeWeb)

    Press Release: Older women with breast cancer may benefit from genetic testing. (Stanford Medicine)

    Press: Genetic testing may benefit some postmenopausal women with breast cancer. (Healio)

    • Feasibility, patient compliance and acceptability of ovarian cancer surveillance using two serum biomarkers and Risk of Ovarian Cancer Algorithm compared to standard ultrasound and CA 125 among women with BRCA mutations.
    • Haque R, Skates SJ, Armstrong MA, Lentz SE, Anderson M, Jiang W, Alvarado MM, Chillemi G, Shaw SF, Kushi LH, Powell CB.
    • Gynecol Oncol. 2020 Mar 4. pii: S0090-8258(20)30164-5. doi: 10.1016/j.ygyno.2020.02.027. [Epub ahead of print]
    • Gene Panel Testing in Hereditary Breast Cancer.
    • Rostami P, Zendehdel K, Shirkoohi R, Ebrahimi E, Ataei M, Imanian H, Najmabadi H, Akbari MR, Sanati MH.
    • Arch Iran Med. 2020 Mar 1;23(3):155-162.
    • Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families.
    • Yang X, Leslie G, Doroszuk A, Schneider S, Allen J, Decker B, Dunning AM, Redman J, Scarth J, Plaskocinska I, Luccarini C, Shah M, Pooley K, Dorling L, Lee A, Adank MA, Adlard J, Aittomäki K, Andrulis IL, Ang P, Barwell J, Bernstein JL, Bobolis K, Borg Å, Blomqvist C, Claes KBM, Concannon P, Cuggia A, Culver JO, Damiola F, de Pauw A, Diez O, Dolinsky JS, Domchek SM, Engel C, Evans DG, Fostira F, Garber J, Golmard L, Goode EL, Gruber SB, Hahnen E, Hake C, Heikkinen T, Hurley JE, Janavicius R, Kleibl Z, Kleiblova P, Konstantopoulou I, Kvist A, Laduca H, Lee ASG, Lesueur F, Maher ER, Mannermaa A, Manoukian S, McFarland R, McKinnon W, Meindl A, Metcalfe K, Mohd Taib NA, Moilanen J, Nathanson KL, Neuhausen S, Ng PS, Nguyen-Dumont T, Nielsen SM, Obermair F, Offit K, Olopade OI, Ottini L, Penkert J, Pylkäs K, Radice P, Ramus SJ, Rudaitis V, Side L, Silva-Smith R, Silvestri V, Skytte AB, Slavin T, Soukupova J, Tondini C, Trainer AH, Unzeitig G, Usha L, van Overeem Hansen T, Whitworth J, Wood M, Yip CH, Yoon SY, Yussuf A, Zogopoulos G, Goldgar D, Hopper JL, Chenevix-Trench G, Pharoah P, George SHL, Balmaña J, Houdayer C, James P, El-Haffaf Z, Ehrencrona H, Janatova M, Peterlongo P, Nevanlinna H, Schmutzler R, Teo SH, Robson M, Pal T, Couch F, Weitzel JN, Elliott A, Southey M, Winqvist R, Easton DF, Foulkes WD, Antoniou AC, Tischkowitz M.
    • J Clin Oncol. 2020 Mar 1;38(7):674-685. doi: 10.1200/JCO.19.01907. Epub 2019 Dec 16.

    Research news: Study: Cancer risks of people with inherited PALB2 mutations (FORCE. XRAY.)

    • Clinical Validity of Next-Generation Sequencing Multi-Gene Panel Testing for Detecting Pathogenic Variants in Patients With Hereditary Breast-Ovarian Cancer Syndrome.
    • Yoo J, Lee GD, Kim JH, Lee SN, Chae H, Han E, Kim Y, Kim M.
    • Ann Lab Med. 2020 Mar;40(2):148-154. doi: 10.3343/alm.2020.40.2.148.

    Introductory article:

    From Genetic Testing to Treatment and Prevention of BRCA-Related Breast Cancer.

    • Risk-reducing mastectomy in germline CDH1 mutation carriers: Pathologic findings.
    • Gianella CA, Bendito B, Iglesias C, Bengoechea MP, Miñón C, Ruiz A.
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    • Recommendations for Advancing the Diagnosis and Management of Hereditary Breast and Ovarian Cancer in Brazil.
    • Achatz MI, Caleffi M, Guindalini R, Marques RM, Nogueira-Rodrigues A, Ashton-Prolla P.
    • JCO Glob Oncol. 2020 Mar;6:439-452. doi: 10.1200/JGO.19.00170.
    • Germline PALB2, ATM variants in a patient with breast and ovarian cancer at risk for familial cancer syndrome: Is there a role for risk-reducing salpingo-oophorectomy?
    • Carbajal-Mamani SL, Markham MJ, Santolaya-Forgas J, Castagno JC, Cardenas-Goicoechea J.
    • Obstet Gynecol Sci. 2020 Mar;63(2):205-208. doi: 10.5468/ogs.2020.63.2.205. Epub 2020 Feb 5.
    • Molecular Mechanisms of PALB2 Function and Its Role in Breast Cancer Management.
    • Wu S, Zhou J, Zhang K, Chen H, Luo M, Lu Y, Sun Y, Chen Y.
    • Front Oncol. 2020 Feb 28;10:301. doi: 10.3389/fonc.2020.00301. eCollection 2020.
    • Ovarian and breast cancer risks associated with pathogenic variants in RAD51C and RAD51D.
    • Yang X, Song H, Leslie G, Engel C, Hahnen E, Auber B, Horváth J, Kast K, Niederacher D, Turnbull C, Houlston R, Hanson H, Loveday C, Dolinsky JS, LaDuca H, Ramus SJ, Menon U, Rosenthal AN, Jacobs I, Gayther SA, Dicks E, Nevanlinna H, Aittomäki K, Pelttari LM, Ehrencrona H, Borg Å, Kvist A, Rivera B, Hansen TVO, Djursby M, Lee A, Dennis J, Bowtell DD, Traficante N, Diez O, Balmaña J, Gruber SB, Chenevix-Trench G; kConFab Investigators, Jensen A, Kjær SK, Høgdall E, Castéra L, Garber J, Janavicius R, Osorio A, Golmard L, Vega A, Couch FJ, Robson M, Gronwald J, Domchek SM, Culver JO, de la Hoya M, Easton DF, Foulkes WD, Tischkowitz M, Meindl A, Schmutzler RK, Pharoah PDP, Antoniou AC.
    • J Natl Cancer Inst. 2020 Feb 28. pii: djaa030. doi: 10.1093/jnci/djaa030. [Epub ahead of print]
    • Comparison of BRCA versus non-BRCA germline mutations and associated somatic mutation profiles in patients with unselected breast cancer.
    • Chen B, Zhang G, Li X, Ren C, Wang Y, Li K, Mok H, Cao L, Wen L, Jia M, Li C, Guo L, Wei G, Lin J, Li Y, Zhang Y, Han-Zhang H, Liu J, Lizaso A, Liao N.
    • Aging (Albany NY). 2020 Feb 24;12(4):3140-3155. doi: 10.18632/aging.102783. Epub 2020 Feb 24.
    • Prevalence of mutations in a diverse cohort of 3162 women tested via the same multigene cancer panel in a managed care health plan.
    • Alvarado M, Tiller GE, Chung J, Haque R.
    • J Community Genet. 2020 Feb 24. doi: 10.1007/s12687-020-00456-6. [Epub ahead of print]
    • The contribution of germline predisposition gene mutations to clinical subtypes of invasive breast cancer from a clinical genetic testing cohort.
    • Hu C, Polley EC, Yadav S, Lilyquist J, Shimelis H, Na J, Hart SN, Goldgar DE, Shah S, Pesaran T, Dolinsky JS, LaDuca H, Couch FJ.
    • J Natl Cancer Inst. 2020 Feb 24. pii: djaa023. doi: 10.1093/jnci/djaa023. [Epub ahead of print]
    • Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes.
    • Landrith T, Li B, Cass AA, Conner BR, LaDuca H, McKenna DB, Maxwell KN, Domchek S, Morman NA, Heinlen C, Wham D, Koptiuch C, Vagher J, Rivera R, Bunnell A, Patel G, Geurts JL, Depas MM, Gaonkar S, Pirzadeh-Miller S, Krukenberg R, Seidel M, Pilarski R, Farmer M, Pyrtel K, Milliron K, Lee J, Hoodfar E, Nathan D, Ganzak AC, Wu S, Vuong H, Xu D, Arulmoli A, Parra M, Hoang L, Molparia B, Fennessy M, Fox S, Charpentier S, Burdette J, Pesaran T, Profato J, Smith B, Haynes G, Dalton E, Crandall JR, Baxter R, Lu HM, Tippin-Davis B, Elliott A, Chao E, Karam R.
    • NPJ Precis Oncol. 2020 Feb 24;4:4. doi: 10.1038/s41698-020-0109-y. eCollection 2020.
    • Association Between Genetically Proxied Inhibition of HMG-CoA Reductase and Epithelial Ovarian Cancer.
    • Yarmolinsky J, Bull CJ, Vincent EE, Robinson J, Walther A, Smith GD, Lewis SJ, Relton CL, Martin RM.
    • JAMA. 2020 Feb 18;323(7):646-655. doi: 10.1001/jama.2020.0150.
    • Clinical applications of polygenic breast cancer risk: a critical review and perspectives of an emerging field.
    • Yanes T, Young MA, Meiser B, James PA.
    • Breast Cancer Res. 2020 Feb 17;22(1):21. doi: 10.1186/s13058-020-01260-3.
    • Mismatch repair gene pathogenic germline variants in a population-based cohort of breast cancer.
    • Nguyen-Dumont T, Steen JA, Winship I, Park DJ, Pope BJ, Hammet F, Mahmoodi M, Tsimiklis H, Theys D, Clendenning M, Giles GG, Hopper JL, Southey MC.
    • Fam Cancer. 2020 Feb 14. doi: 10.1007/s10689-020-00164-7. [Epub ahead of print]
    • Genetic Variants Detected Using Cell-Free DNA from Blood and Tumor Samples in Patients with Inflammatory Breast Cancer.
    • Winn JS, Hasse Z, Slifker M, Pei J, Arisi-Fernandez SM, Talarchek JN, Obeid E, Baldwin DA, Gong Y, Ross E, Cristofanilli M, Alpaugh RK, Fernandez SV.
    • Int J Mol Sci. 2020 Feb 14;21(4). pii: E1290. doi: 10.3390/ijms21041290.
    • Loss-of-function variants in CTNNA1 detected on multigene panel testing in individuals with gastric or breast cancer.
    • Clark DF, Michalski ST, Tondon R, Nehoray B, Ebrahimzadeh J, Hughes SK, Soper ER, Domchek SM, Rustgi AK, Pineda-Alvarez D, Anderson MJ, Katona BW.
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    • BRCA and PALB2 mutations in a cohort of male breast cancer with one bilateral case.
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    Commentary, Research review:

    A commentary on germline mutations of multiple breast cancer-related genes are differentially associated with triple-negative breast cancers and prognostic factors

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    Press: Breast Cancer Care After Genetic Testing Often Doesn’t Follow Guidelines. (Clinical OMICs)

    Research news:

    Women with inherited genetic mutations for breast cancer do not always receive treatment according to guidelines.

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    Letter, Comment:

    RE: Mismatch repair protein loss in breast cancer: clinicopathological associations in a large British Columbia cohort.

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