Cohorts ~ Variants of Uncertain Significance
~ Genetics of Breast & Ovarian Cancer

Studies with VUS carriers as study group cohort

List was last updated on Nov 21, 2021 @ 12:39 am.

    • Genetic Counseling, Screening and Risk-Reducing Surgery in Patients with Primary Breast Cancer and Germline BRCA mutations: Unmet needs in Low- and Middle- Income Countries.
    • Moukadem HA, Al Masry A, Atwani RW, Kreidieh F, Khalil LE, Saroufim R, Daouk S, Dalle IA, El Saghir NS.
    • Eur J Breast Health. 2021 Oct 13. doi: 10.4274/ejbh.galenos.2021.2021-5-1. [Epub ahead of print]
    • Clinical management among individuals with variant of uncertain significance in hereditary cancer: A systematic review and meta-analysis.
    • Makhnoon S, Bednar EM, Krause KJ, Peterson SK, Lopez-Olivo MA.
    • Clin Genet. 2021 Apr 12. doi: 10.1111/cge.13966. Epub ahead of print.
    • Review
    • Economic impact of multigene panel testing for hereditary breast and ovarian cancer.
    • Byfield SD, Wei H, DuCharme M, Lancaster JM.
    • J Comp Eff Res. 2021 Jan 25. doi: 10.2217/cer-2020-0192. Epub ahead of print.
    • Genome-Wide Gene Expression Analyses of BRCA1- and BRCA2-Associated Breast and Ovarian Tumours.
    • Wiggins GAR, Walker LC, Pearson JF.
    • Cancers (Basel). 2020 Oct 16;12(10):E3015. doi: 10.3390/cancers12103015.
    • Prevalence of Variant Reclassification Following Hereditary Cancer Genetic Testing.
    • Mersch J, Brown N, Pirzadeh-Miller S, Mundt E, Cox HC, Brown K, Aston M, Esterling L, Manley S, Ross T.
    • JAMA. 2018 Sep 25;320(12):1266-1274. doi: 10.1001/jama.2018.13152.


    Making Sense of the Genome Remains a Work in Progress


    Multitiered Questions Regarding Multigene Testing for Cancer Susceptibility.

    • Contralateral prophylactic mastectomy rate and predictive factors among patients with breast cancer who underwent multigene panel testing for hereditary cancer.
    • Elsayegh N, Webster RD, Gutierrez Barrera AM, Lin H, Kuerer HM, Litton JK, Bedrosian I, Arun BK.
    • Cancer Med. 2018 Jun;7(6):2718-2726. doi: 10.1002/cam4.1519. Epub 2018 May 7.
    • Risk management decisions in women with BRCA1 and BRCA2 mutations.
    • Morgan R, Brown A, Hamman KJ, Sampson J, Naik A, Massimino K.
    • Am J Surg. 2018 May;215(5):899-903. doi: 10.1016/j.amjsurg.2018.02.010. Epub 2018 Feb 13.
    • Surgical Findings and Outcomes in Premenopausal Breast Cancer Patients Undergoing Oophorectomy: A Multicenter Review From the Society of Gynecologic Surgeons Fellows Pelvic Research Network.
    • Harvey LFB, Abramson VG, Alvarez J, DeStephano C, Hur HC, Lee K, Mattingly P, Park B, Piszczek C, Seifi F, Stuparich M, Yunker A.
    • J Minim Invasive Gynecol. 2018 Jan;25(1):111-115. doi: 10.1016/j.jmig.2017.08.643. Epub 2017 Aug 15.
    • Conflicting Interpretation of Genetic Variants and Cancer Risk by Commercial Laboratories as Assessed by the Prospective Registry of Multiplex Testing.
    • Balmaña J, Digiovanni L, Gaddam P, Walsh MF, Joseph V, Stadler ZK, Nathanson KL, Garber JE, Couch FJ, Offit K, Robson ME, Domchek SM.
    • J Clin Oncol. 2016 Dec;34(34):4071-4078. Epub 2016 Sep 30.


    Clinical Genetics Testing Laboratories Have a Remarkably Low Rate of Clinically Significant Discordance When Interpreting Variants in Hereditary Cancer Syndrome Genes.


    Reply to R. Nussbaum et al and J. Dolinsky et al.

    • Conservative mastectomies for breast cancer and risk-reducing surgery: the Memorial Sloan Kettering Cancer Center experience.
    • Manning AT, Sacchini VS.
    • Gland Surg. 2016 Feb;5(1):55-62. doi: 10.3978/j.issn.2227-684X.2015.10.02.
    • Association of polymorphisms with a family history of cancer and the presence of germline mutations in the BRCA1/BRCA2 genes.
    • Fernandes GC, Michelli RA, Scapulatempo-Neto C, Palmero EI.
    • Hered Cancer Clin Pract. 2016 Jan 13;14:2. doi: 10.1186/s13053-015-0042-1. eCollection 2016.
    • Nipple-sparing mastectomy in patients with BRCA1/2 mutations and variants of uncertain significance.
    • Manning AT, Wood C, Eaton A, Stempel M, Capko D, Pusic A, Morrow M, Sacchini V.
    • Br J Surg. 2015 Oct;102(11):1354-9. doi: 10.1002/bjs.9884. Epub 2015 Aug 27.
    • MSH2 role in BRCA1-driven tumorigenesis: A preliminary study in yeast and in human tumors from BRCA1-VUS carriers.
    • Maresca L, Spugnesi L, Lodovichi S, Cozzani C, Naccarato AG, Tancredi M, Collavoli A, Falaschi E, Rossetti E, Aretini P, Cervelli T, Galli A, Caligo MA.
    • Eur J Med Genet. 2015 Oct;58(10):531-9. doi: 10.1016/j.ejmg.2015.09.005. Epub 2015 Sep 14.
    • Second primary breast cancer in BRCA1 and BRCA2 mutation carriers: 10-year cumulative incidence in the Breast Cancer Family Registry.
    • Menes TS, Terry MB, Goldgar D, Andrulis IL, Knight JA, John EM, Liao Y, Southey M, Miron A, Chung W, Buys SS.
    • Breast Cancer Res Treat. 2015 Jun;151(3):653-60. doi: 10.1007/s10549-015-3419-y. Epub 2015 May 15.
    • Comparison of risk management strategies between women testing positive for a BRCA variant of unknown significance and women with known BRCA deleterious mutations.
    • Garcia C, Lyon L, Littell RD, Powell CB.
    • Genet Med. 2014 Dec;16(12):896-902. doi: 10.1038/gim.2014.48. Epub 2014 May 22.