Category: Mutation Spectrum

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.

    • 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.

    • 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.

    • 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

    • 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.

    • At NSGC, Genetic Counselors Address Race-Based Medicine, Ways to Change.
    • Curtin C.
    • GenomeWeb. Diagnostics. Molecular Diagnostics. 2021 Sep 24.

    • Oncology clinic-based germline genetic testing for exocrine pancreatic cancer enables timely return of results and unveils low uptake of cascade testing.
    • Wang Y, Golesworthy B, Cuggia A, Domecq C, Chaudhury P, Barkun J, Metrakos P, Asselah J, Bouganim N, Gao ZH, Chong G, Foulkes WD, Zogopoulos G.
    • J Med Genet. 2021 Sep 23:jmedgenet-2021-108054. doi: 10.1136/jmedgenet-2021-108054. Epub ahead of print.

    • LitAlert ~~ GeneLit.com

    • Combination of a 15-SNP Polygenic Risk Score and Classical Risk Factors for the Prediction of Breast Cancer Risk in Cypriot Women.
    • Yiangou K, Kyriacou K, Kakouri E, Marcou Y, Panayiotidis MI, Loizidou MA, Hadjisavvas A, Michailidou K.
    • Cancers (Basel). 2021 Sep 11;13(18):4568. doi: 10.3390/cancers13184568.

    • 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.

    Related:

    Commentary:

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

    • Targeting DNA Damage Repair Mechanisms in Pancreas Cancer.
    • Perkhofer L, Golan T, Cuyle PJ, Matysiak-Budnik T, Van Laethem JL, Macarulla T, Cauchin E, Kleger A, Beutel AK, Gout J, Stenzinger A, Van Cutsem E, Bellmunt J, Hammel P, O'Reilly EM, Seufferlein T.
    • Cancers (Basel). 2021 Aug 24;13(17):4259. doi: 10.3390/cancers13174259.

    • LitAlert ~~ GeneLit.com

    • 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 9;4(9):e2123616. doi: 10.1001/jamanetworkopen.2021.23616.

    Related:

    Commentary:

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

    • 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, Grazia Tibiletti M, Fox SB, kConFab, Palli D, Ottini L.
    • Cancers (Basel). 2021 Sep 8;13(18):4515. doi: 10.3390/cancers13184515.

    • 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.

    Related:

    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.

    • 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

    • LitAlert ~~ GeneLit.com

    • Germline variants in DNA repair genes, including BRCA1/2, may cause familial myeloproliferative neoplasms.
    • Elbracht M, Meyer R, Kricheldorf K, Gezer D, Thomas E, Betz B, Kurth I, Teichmann LL, Brümmendorf TH, Germing U, Isfort S, Koschmieder S.
    • Blood Adv. 2021 Sep 14;5(17):3373-3376. doi: 10.1182/bloodadvances.2021004811.

    • Hereditary pancreatic cancer.
    • Abe K, Kitago M, Kitagawa Y, Hirasawa A.
    • Int J Clin Oncol. 2021 Sep 2. doi: 10.1007/s10147-021-02015-6. Epub ahead of print.

    • Homologous Recombination Deficiency Alterations in Colorectal Cancer: Clinical, Molecular, and Prognostic Implications.
    • Moretto R, Elliott A, Zhang J, Arai H, Germani MM, Conca V, Xiu J, Stafford P, Oberley M, Abraham J, Spetzler D, Rossini D, Antoniotti C, Marshall J, Shields A, Lopes G, Lonardi S, Pietrantonio F, Tomasello G, Passardi A, Tamburini E, Santini D, Aprile G, Masi G, Falcone A, Lenz HJ, Korn M, Cremolini C.
    • J Natl Cancer Inst. 2021 Sep 1:djab169. doi: 10.1093/jnci/djab169. Epub ahead of print.

    Related:

    Research news:

    Are Homologous Recombination Deficiency Mutations Relevant in Colorectal Cancer?

    • 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.

    • Prevalence of Germline Pathogenic Variants in Cancer Predisposing Genes in Czech and Belgian Pancreatic Cancer Patients.
    • Wieme G, Kral J, Rosseel T, Zemankova P, Parton B, Vocka M, Van Heetvelde M, Kleiblova P, Blaumeiser B, Soukupova J, van den Ende J, Nehasil P, Tejpar S, Borecka M, Gómez García EB, Blok MJ, Safarikova M, Kalousova M, Geboes K, De Putter R, Poppe B, De Leeneer K, Kleibl Z, Janatova M, Claes KBM.
    • Cancers (Basel). 2021 Sep 2;13(17):4430. doi: 10.3390/cancers13174430.

    • LitAlert ~~ GeneLit.com

    • 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.