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    •• Reply:

    Reply to: Comments on {The CHK2 kinase is recurrently mutated and functionally impaired in the germline of pediatric cancer patients}.

    •• Original research:

    The CHK2 kinase is recurrently mutated and functionally impaired in the germline of pediatric cancer patients.

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    •• Letter, Commentary:

    Comments on [The CHK2 kinase is recurrently mutated and functionally impaired in the germline of pediatric cancer patients].

    •• Reply:

    Reply to: Comments on { The CHK2 kinase is recurrently mutated and functionally impaired in the germline of pediatric cancer patients}.

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

    Reply, Letter:

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

    Original research:

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

    • Whole-Exome Sequencing Among Chinese Patients With Hereditary Diffuse Gastric Cancer.
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    • Gynecol Oncol. 2022 Dec;167(3):404-413. doi: 10.1016/j.ygyno.2022.08.021. Epub 2022 Oct 20.

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

    •• Letter:

    AML and MDS associated with PARP inhibitor treatment of ovarian cancer.

    •• Reply, Letter:

    Response to letter to the editor "AML and MDS associated with PARP inhibitor treatment of ovarian cancer".

    •• Podcast: December 2022 Editor’s Choice: Exceptional PARP inhibitor responders: the good and the bad. (Gynecologic Oncology. Podcasts.)

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    Clinical and molecular characteristics of ARIEL3 patients who derived exceptional benefit from rucaparib maintenance treatment for high-grade ovarian carcinoma.

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

    •• Research news: Genetic Variants Could Predict Prostate Cancer Risk in Black Men. (Inside Precision Medicine)

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    • JAMA Oncol. 2022 Nov 17. doi: 10.1001/jamaoncol.2022.5218. Epub ahead of print.

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

    •• Commentary:

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

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

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

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    Comment, Letter:

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

    Reply, Letter:

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

    • MAPK Pathway Genetic Alterations Are Associated with Prolonged Overall Survival in Low-Grade Serous Ovarian Carcinoma.
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    • Clin Cancer Res. 2022 Oct 14;28(20):4456-4465. doi: 10.1158/1078-0432.CCR-21-4183.

    Commentary:

    Taking the Road Less Traveled: Following Molecular Trail Markers.

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

    Special article:

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

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

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

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

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

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

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

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

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

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

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

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

    Reply, Letter:

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

    Original research:

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

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    Research news:

    Novel Germline Loci Are Associated with Clonal Hematopoiesis Risk.

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

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    • Cancers (Basel). 2022 Jun 15;14(12):2960. doi: 10.3390/cancers14122960.
    • Common Multiple Primary Cancers Associated With Breast and Gynecologic Cancers and Their Risk Factors, Pathogenesis, Treatment and Prognosis: A Review.
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    • Update Breast Cancer 2022 Part 1 - Early Stage Breast Cancer.
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    • Geburtshilfe Frauenheilkd. 2022 Jun 3;82(6):580-589. doi: 10.1055/a-1811-6106.
    • Comprehensive evaluation and efficient classification of BRCA1 RING domain missense substitutions.
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    • Am J Hum Genet. 2022 Jun 2;109(6):1153-1174. doi: 10.1016/j.ajhg.2022.05.004.
    • Are Mutation Carrier Patients Different from Non-Carrier Patients? Genetic, Pathology, and US Features of Patients with Breast Cancer.
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    • Cancers (Basel). 2022 Jun 2;14(11):2759. doi: 10.3390/cancers14112759.
    • Genetic Aspects of Mammographic Density Measures Associated with Breast Cancer Risk.
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    • Cancers (Basel). 2022 Jun 2;14(11):2767. doi: 10.3390/cancers14112767.
    • BARD1 mystery: tumor suppressors are cancer susceptibility genes.
    • Hawsawi YM, Shams A, Theyab A, Abdali WA, Hussien NA, Alatwi HE, Alzahrani OR, Oyouni AAA, Babalghith AO, Alreshidi M.
    • BMC Cancer. 2022 Jun 1;22(1):599. doi: 10.1186/s12885-022-09567-4.
    • The yield and effectiveness of breast cancer surveillance in women with PTEN Hamartoma Tumor Syndrome.
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    • Cancer. 2022 Jun 1. doi: 10.1002/cncr.34326. Epub ahead of print
    • Association of Pathogenic Variants in Hereditary Cancer Genes With Multiple Diseases.
    • Zeng C, Bastarache LA, Tao R, Venner E, Hebbring S, Andujar JD, Bland ST, Crosslin DR, Pratap S, Cooley A, Pacheco JA, Christensen KD, Perez E, Zawatsky CLB, Witkowski L, Zouk H, Weng C, Leppig KA, Sleiman PMA, Hakonarson H, Williams MS, Luo Y, Jarvik GP, Green RC, Chung WK, Gharavi AG, Lennon NJ, Rehm HL, Gibbs RA, Peterson JF, Roden DM, Wiesner GL, Denny JC.
    • JAMA Oncol. 2022 Jun 1;8(6):835-844. doi: 10.1001/jamaoncol.2022.0373.

    Commentary:

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

    Comment, Letter:

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

    Reply, Letter:

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

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

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

    Case report:

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

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

    Original research:

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

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

    Commentary:

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

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

    Commentary:

    Patchwork Cancer Predisposition.

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

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

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

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

    Original research:

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

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

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

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

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

    Commentary:

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

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

    Commentary:

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

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

    Commentary:

    Polygenic embryo testing: understated ethics, unclear utility.

    Commentary:

    The uncertain science of preimplantation and prenatal genetic testing.

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

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

    Original research:

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

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

    Original research:

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

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

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

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

    Guideline:

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

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

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

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

    • The Mutational Landscape of Early-Onset Breast Cancer: A Next-Generation Sequencing Analysis.
    • Andrikopoulou A, Chatzinikolaou S, Kyriopoulos I, Bletsa G, Kaparelou M, Liontos M, Dimopoulos MA, Zagouri F.
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    News: Lifestyle Choices Can Influence Genetic Risks for Cancer. (Medscape Oncology)

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    Commentary:

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

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    • 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.

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    • 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.
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    • Genomic Determinants of Homologous Recombination Deficiency across Human Cancers.
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    • Clinical consequences of BRCA2 hypomorphism.
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    • NPJ Breast Cancer. 2021 Sep 9;7(1):117. doi: 10.1038/s41523-021-00322-9.
    • The prevalence of ataxia telangiectasia mutated (ATM) variants in patients with breast cancer patients: a systematic review and meta-analysis.
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    • Germline Genetic Testing for Women With Breast Cancer: Shifting the Paradigm From Whom to Test to Whom NOT to Test.
    • Tung N, Desai N.
    • J Clin Oncol. 2021 Sep 7:JCO2101761. doi: 10.1200/JCO.21.01761. Epub ahead of print.

    Original research:

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

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

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

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

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

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

    Commentary:

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

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

    Commentary:

    Scratching Below the Ovarian Cancer GWAS Surface.

    • Lynch syndrome-associated epithelial ovarian cancer and its immunological profile.
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    • The importance of Ethnicity: are breast cancer Polygenic Risk Scores ready for women who are not of white European origin?
    • Evans DG, van Veen EM, Byers H, Roberts E, Howell A, Howell SJ, Harkness EF, Brentnall A, Cuzick J, Newman WG.
    • Int J Cancer. 2021 Aug 30. doi: 10.1002/ijc.33782. Epub ahead of print.
    • Impacts of LOC105371267 Variants on Breast Cancer Susceptibility in Northern Chinese Han Females: A Population-Based Case-Control Study.
    • Peng L, Huang C, Xing S, Li D, He C, He Y, Yang W, Jin T, Wang L.
    • J Oncol. 2021 Aug 28;2021:4990695. doi: 10.1155/2021/4990695.
    • Association between single-nucleotide polymorphisms in miRNA and breast cancer risk: an updated review.
    • Arancibia T, Morales-Pison S, Maldonado E, Jara L.
    • Biol Res. 2021 Aug 28;54(1):26. doi: 10.1186/s40659-021-00349-z.
    • Discovery of structural deletions in breast cancer predisposition genes using whole genome sequencing data from > 2000 women of African-ancestry.
    • Chen Z, Guo X, Long J, Ping J, Li B, Fadden MK, Ahearn TU, Stram DO, Shu XO, Jia G, Figueroa J; Ghana Breast Health Study team, Palmer JR, Sanderson M, Haiman CA, Blot WJ, Garcia-Closas M, Cai Q, Zheng W.
    • Hum Genet. 2021 Aug 27. doi: 10.1007/s00439-021-02342-8. Epub ahead of print.
    • Current gene panels account for nearly all homologous recombination repair-associated multiple-case breast cancer families.
    • Matis TS, Zayed N, Labraki B, de Ladurantaye M, Matis TA, Camacho Valenzuela J, Hamel N, Atayan A, Rivera B, Tabach Y, Tonin PN, Orthwein A, Mes-Masson AM, El Haffaf Z, Foulkes WD, Polak P.
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    • Understanding the Clinical Implications of Low Penetrant Genes and Breast Cancer Risk.
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    • JAMA Netw Open. 2021 Aug 2;4(8):e2119084. doi: 10.1001/jamanetworkopen.2021.19084.

    Commentary:

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

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

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    • 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)

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    • 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.
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    • Commentary, Review
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    • [No author given]
    • FORCE. XRAY. 2021 Jul 1.

    Original research:

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

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    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.

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    Commentary:

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

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    Letter, Commentary:

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

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