Category: All HBOC

LitAlert ~~ GeneLit.com

    • Germline RAD51B variants confer susceptibility to breast and ovarian cancers deficient in homologous recombination.
    • Setton J, Selenica P, Mukherjee S, Shah R, Pecorari I, McMillan B, Pei IX, Kemel Y, Ceyhan-Birsoy O, Sheehan M, Tkachuk K, Brown DN, Zhang L, Cadoo K, Powell S, Weigelt B, Robson M, Riaz N, Offit K, Reis-Filho JS, Mandelker D.
    • NPJ Breast Cancer. 2021 Oct 11;7(1):135. doi: 10.1038/s41523-021-00339-0.

    • Study: Genetic testing for inherited mutations may be helpful for all people with advanced or metastatic cancer.
    • [No author given]
    • FORCE. XRAY. 2021 Sep 30.

    Related:

    Original research:

    Therapeutic Implications of Germline Testing in Patients With Advanced Cancers.

    • Genetic Testing Challenges in Oncology: BRCA1 Variant Downgraded After Risk-Reducing Surgery.
    • Ray T.
    • Precision Oncology News. Biomarkers. BRCA. 2021 Sep 29.

    • 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.

    • LitAlert ~~ GeneLit.com

    • The detection of germline and somatic BRCA1/2 genetic variants through parallel testing of patients with high-grade serous ovarian cancer: a national retrospective audit.
    • Frugtniet B, Morgan S, Murray A, Palmer-Smith S, White R, Jones R, Hanna L, Fuller C, Hudson E, Mullard A, Quinton AE.
    • BJOG. 2021 Oct 17. doi: 10.1111/1471-0528.16975. Epub ahead of print

    • Prevalence and Clinical Characterization of BRCA1 and BRCA2 Mutations in Korean Patients with Epithelial Ovarian Cancer.
    • Paik ES, Heo EJ, Choi CH, Kim JH, Kim JW, Kim YM, Park SY, Lee JW, Kim JW, Kim BG.
    • Cancer Sci. 2021 Oct 17. doi: 10.1111/cas.15166. Epub ahead of print.

    • ASO Author Reflections: Germline Testing for All Patients With Breast Cancer: Has the Time Finally Come?
    • Mittal A, Pramanik R.
    • Ann Surg Oncol. 2021 Oct 15. doi: 10.1245/s10434-021-10880-8. Epub ahead of print.

    • Inherited Mutations in Chinese Men With Prostate Cancer.
    • Zhu Y, Wei Y, Zeng H, Li Y, Ng CF, Zhou F, He C, Sun G, Ni Y, Chiu PKF, Teoh JYC, Wang B, Pan J, Wan F, Dai B, Qin X, Lin G, Gan H, Wu J, Ye D.
    • J Natl Compr Canc Netw. 2021 Oct 15:1-9. doi: 10.6004/jnccn.2021.7010. Epub ahead of print.

    • Germline Variants Identified in Patients with Early-onset Renal Cell Carcinoma Referred for Germline Genetic Testing.
    • Truong H, Sheikh R, Kotecha R, Kemel Y, Reisz PA, Lenis AT, Mehta NN, Khurram A, Joseph V, Mandelker D, Latham A, Ceyhan-Birsoy O, Ladanyi M, Shah NJ, Walsh MF, Voss MH, Lee CH, Russo P, Coleman JA, Hakimi AA, Feldman DR, Stadler ZK, Robson ME, Motzer RJ, Offit K, Patil S, Carlo MI.
    • Eur Urol Oncol. 2021 Oct 12:S2588-9311(21)00180-2. doi: 10.1016/j.euo.2021.09.005. Epub ahead of print.

    • Study Seeks to Prevent Cancer and Extend Quality of Life for Women at Increased Genetic Risk of Ovarian Cancer.
    • Jenks S.
    • FORCE. Blog. 2021 Oct 12.

    • LitAlert ~~ GeneLit.com

    • Uptake and timing of bilateral and contralateral risk-reducing mastectomy in women with Li-Fraumeni syndrome.
    • Siegel A, Bremer RC, Klein WMP, Savage SA, Loud JT, Khincha PP.
    • Breast Cancer Res Treat. 2021 Oct 15. doi: 10.1007/s10549-021-06410-5. Epub ahead of print.

    • Factors Influencing Patient Preferences for Telehealth Cancer Genetic Counseling During the COVID-19 Pandemic.
    • Breen KE, Tuman M, Bertelsen CE, Sheehan M, Wylie D, Fleischut MH, Offit K, Stadler ZK, Salo-Mullen EE, Hamilton JG.
    • JCO Oncol Pract. 2021 Oct 15:OP2100301. doi: 10.1200/OP.21.00301. Epub ahead of print.

    • Peutz–Jeghers Syndrome and the Role of Imaging: Pathophysiology, Diagnosis, and Associated Cancers.
    • Klimkowski S, Ibrahim M, Ibarra Rovira JJ, Elshikh M, Javadi S, Klekers AR, Abusaif AA, Moawad AW, Ali K, Elsayes KM.
    • Cancers (Basel). 2021 Oct 13;13(20):5121. doi: 10.3390/cancers13205121.

    • Somatic mosaics in hereditary tumor predisposition syndromes.
    • Steinke-Lange V, de Putter R, Holinski-Feder E, Claes KBM.
    • Eur J Med Genet. 2021 Oct 13;64(12):104360. doi: 10.1016/j.ejmg.2021.104360. Epub ahead of print.

    • Genotype-Cancer Association in Patients with Fanconi Anemia due to Pathogenic Variants in FANCD1 (BRCA2) or FANCN (PALB2).
    • McReynolds LJ, Biswas K, Giri N, Sharan SK, Alter BP.
    • Cancer Genet. 2021 Oct 4. doi: 10.1016/j.cancergen.2021.10.001. Epub ahead of print.

    • BRCA1 Reversion Mutation Confers Resistance to Olaparib and Camrelizumab in a Patient with Breast Cancer Liver Metastasis.
    • Pan JN, Lei L, Ye WW, Wang XJ, Cao WM.
    • J Breast Cancer. 2021 Sep 7. doi: 10.4048/jbc.2021.24.e39. Epub ahead of print.

    • LitAlert ~~ GeneLit.com

    • Prognostic difficulties of men with breast cancer.
    • Fentiman IS.
    • Breast J. 2021 Oct 15. doi: 10.1111/tbj.14297. Epub ahead of print.
    • Review

    • Care of men with cancer-predisposing BRCA variants.
    • Horton R, Pharoah P, Hayward J, Lucassen A.
    • BMJ. 2021 Oct 14;375:n2376. doi: 10.1136/bmj.n2376.
    • Review

    • IMProving care After inherited Cancer Testing (IMPACT) study: protocol of a randomized trial evaluating the efficacy of two interventions designed to improve cancer risk management and family communication of genetic test results.
    • Cragun D, Beckstead J, Farmer M, Hooker G, Dean M, Matloff E, Reid S, Tezak A, Weidner A, Whisenant JG, Pal T.
    • BMC Cancer. 2021 Oct 13;21(1):1099. doi: 10.1186/s12885-021-08822-4.

    • Clinicopathological Characterization of Double Heterozygosity for BRCA1 and BRCA2 Variants in Korean Breast Cancer Patients.
    • Bang YJ, Kwon WK, Nam SJ, Kim SW, Chae BJ, Lee SK, Ryu JM, Kim JW, Yu J, Lee JE.
    • Cancer Res Treat. 2021 Oct 13. doi: 10.4143/crt.2021.791. Epub ahead of print.

    • 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.

    • LitAlert ~~ GeneLit.com

    • 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

    • 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.

    • Tumor BRCA testing in ovarian cancer and EQA scheme: our experience of a critical evaluation.
    • De Paolis E, Concolino P, Onori ME, Santonocito C, Marchetti C, Fagotti A, Scambia G, Urbani A, Minucci A.
    • Mol Biol Rep. 2021 Oct 13. doi: 10.1007/s11033-021-06812-0. Epub ahead of print.

    • LitAlert ~~ GeneLit.com

    • Concurrent pathogenic variations in patients with hereditary cancer syndromes.
    • Agaoglu NB, Doganay L.
    • Eur J Med Genet. 2021 Dec.;64(12):104366. doi: 10.1016/j.ejmg.2021.104366. Epub 2021 Oct 9.

    • Targeted Therapeutic Strategies for Triple-Negative Breast Cancer.
    • Li Y, Zhan Z, Yin X, Fu S, Deng X.
    • Front Oncol. 2021 Oct 12. doi: 10.3389/fonc.2021.731535.

    • BRCA1 versus BRCA2 and PARP inhibitors efficacy in solid tumors: a meta-analysis of randomized controlled trials.
    • Li S, Tao L, Dai H, Gong X, Zhuo Y, Xiang H, Zhao Y, Gao Q, Deng L.
    • Front Oncol. 2021 Oct 12. doi: 10.3389/fonc.2021.718871.

    • Identification of Candidate Genes in Early-Stage Invasive Ductal Carcinoma Patients with High-Risk Mortality Using Genes Commonly Involved in Breast Cancer: A Retrospective Study.
    • Hung CC, Huang HI, Hung CM, Moi SH.
    • Public Health Genomics. 2021 Oct 11:1-10. doi: 10.1159/000519140. Epub ahead of print.

    • Communication processes about predictive genetic testing within high-risk breast cancer families: a two-phase study design.
    • Blomen CL, Pott A, Volk AE, Budäus L, Witzel I.
    • Sci Rep. 2021 Oct 11;11(1):20178. doi: 10.1038/s41598-021-98737-8.

    • Setting a diagnostic benchmark for tumor BRCA testing: Detection of BRCA1 and BRCA2 large genomic rearrangements in FFPE tissue - A pilot study.
    • Valtcheva N, Nguyen-Sträuli BD, Wagner U, Freiberger SN, Varga Z, Britschgi C, Dedes KJ, Rechsteiner MP.
    • Exp Mol Pathol. 2021 Oct 9:104705. doi: 10.1016/j.yexmp.2021.104705. Epub ahead of print.

    • Updates in Prostate Cancer Research and Screening in Men at Genetically Higher Risk.
    • Bancroft EK, Raghallaigh HN, Page EC, Eeles RA.
    • Curr Genet Med Rep. 2021 Oct 8:1-12. doi: 10.1007/s40142-021-00202-5. Epub ahead of print.

    • A Validated Risk Prediction Model for Breast Cancer in US Black Women.
    • Palmer JR, Zirpoli G, Bertrand KA, Battaglia T, Bernstein L, Ambrosone CB, Bandera EV, Troester MA, Rosenberg L, Pfeiffer RM, Trinquart L.
    • J Clin Oncol. 2021 Oct 8:JCO2101236. doi: 10.1200/JCO.21.01236. Epub ahead of print.

    • Ask Rosa – The making of a digital genetic conversation tool, a chatbot, about hereditary breast and ovarian cancer.
    • Siglen E, Høberg Vetti H, Forberg Lunde AB, Akselberg Hatlebrekke T, Strømsvik N, Hamang A, Tronsli Hovland S, Walker Rettberg J, Steen VM, Bjorvatn C.
    • Patient Educ Couns. 2021 Oct 6:S0738-3991(21)006364. doi: 10.1016/j.pec.2021.09.027. Epub ahead of print.

    • Efficacy and Safety of PARP Inhibitors in Advanced or Metastatic Triple-Negative Breast Cancer: A Systematic Review and Meta- analysis.
    • Liu X, Wu K, Zheng D, Luo C, Fan Y, Zhong X, Zheng H.
    • Front Oncol. 2021 Oct 4;10:683656. doi: 10.3389/fonc.2021.742139.

    • Exploring Implementation of Personal Breast Cancer Risk Assessments.
    • Sierra MA, Wheeler JCW, Devereux L, Trainer AH, Keogh L.
    • J Pers Med. 2021 Sep 30;11(10):992. doi: 10.3390/jpm11100992.

    • Fanconi Anaemia, Childhood Cancer and the BRCA Genes.
    • Woodward ER, Meyer S.
    • Genes (Basel). 2021 Sep 27;12(10):1520. doi: 10.3390/genes12101520.

    • LitAlert ~~ GeneLit.com

    • Medical guidelines for Li-Fraumeni syndrome 2019, version 1.1.
    • Kumamoto T, Yamazaki F, Nakano Y, Tamura C, Tashiro S, Hattori H, Nakagawara A, Tsunematsu Y.
    • Int J Clin Oncol. 2021 Oct 11. doi: 10.1007/s10147-021-02011-w. Epub ahead of print.
    • Guideline

    • De novo metastatic breast cancer arising in young women: review of the current evidence.
    • Conte B, Soldato D, Razeti MGFregatti P, de Azambuja E, Schettini F, Prat A, Del Mastro L, Lambertini M.
    • Clin Breast Cancer. 2021 Oct 8:S1526-8209(21)00292-5. doi: 10.1016/j.clbc.2021.10.001. Epub ahead of print.
    • Review

    • The effect of supplemental imaging on interval cancer rates in mammography screening: Systematic Review.
    • Zeng A, Brennan ME, Young S, Mathieu E, Houssami N.
    • Clin Breast Cancer. 2021 Oct 1:S1526-8209(21)00290-1. doi: 10.1016/j.clbc.2021.09.011. Epub ahead of print.
    • Review

    • LitAlert ~~ GeneLit.com

    • Influence of cultural practices on breast cancer risks, stage at presentation and outcome in a multi-ethnic developing country.
    • Abdullah N, Mohamed N.
    • Oncol Lett. 2021 Nov;22(5):806. doi: 10.3892/ol.2021.13067. Epub 2021 Sep 23.

    • An Application of the Patient Rule-Induction Method to Detect Clinically Meaningful Subgroups from Failed Phase III Clinical Trials.
    • Dyson G.
    • Int J Clin Biostat Biom. 2021;7(1):038. doi: 10.23937/2469-5831/1510038. Epub 2021 Jun 28.

    • Computerized morphometry analysis of epithelial fimbriae nuclear symmetry in BRCA carriers may identify patients at risk for developing ovarian cancer.
    • Amit A, Sabo E, Petruseva A, Stroller L, Reiss A, Klorin G.
    • Microsc Res Tech. 2021 Oct 9. doi: 10.1002/jemt.23958. Epub ahead of print.

    • LitAlert ~~ GeneLit.com

    • Novel Models of Genetic Education and Testing for Pancreatic Cancer Interception: Preliminary Results from the GENERATE Study.
    • Furniss CS, Yurgelun MB, Ukaegbu C, Constantinou PE, Lafferty CC, Talcove-Berko ER, Schwartz AN, Stopfer JE, Underhill-Blazey M, Kenner B, Nelson SH, Okumura S, Law S, Zhou AY, Coffin TB, Rodriguez NJ, Uno H, Ocean AJ, McAllister F, Lowy AM, Lippman SM, Klein AP, Madlensky L, Petersen GM, Garber JE, Goggins MG, Maitra A, Syngal S.
    • Cancer Prev Res (Phila). 2021 Oct 8. doi: 10.1158/1940-6207.CAPR-20-0642. Epub ahead of print.

    • Olaparib: A Review as First-Line Maintenance Therapy in Advanced Ovarian Cancer.
    • Paik J.
    • Target Oncol. 2021 Oct 8. doi: 10.1007/s11523-021-00842-1. Epub ahead of print.
    • Review

    • Unique challenges and outcomes of young women with breast cancers from a tertiary care cancer centre in India.
    • Bajpai J, Pradeep V, Joshi S, Wadasadawala T, Rath S, Pathak R, Nandhana R, Mohanty S, Chougle Q, Engineer M, Abraham N, Ghosh J, Nair M, Gulia S, Popat P, Patil A, Sheth T, Desai S, Thakur M, Rangrajan V, Parmar V, Sarin R, Gupta S, Badwe R.
    • Breast. 2021 Oct 5:S0960-9776(21)00464-1. doi: 10.1016/j.breast.2021.09.008. Epub ahead of print.