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Review
. 2018 Dec 19;10(12):524.
doi: 10.3390/cancers10120524.

BRCA Mutations and Breast Cancer Prevention

Joanne Kotsopoulos  1   2
Affiliations
Review

BRCA Mutations and Breast Cancer Prevention

Joanne Kotsopoulos. Cancers (Basel). .

Abstract

Women who inherit a deleterious BRCA1 or BRCA2 mutation face substantially increased risks of developing breast cancer, which is estimated at 70%. Although annual screening with magnetic resonance imaging (MRI) and mammography promotes the earlier detection of the disease, the gold standard for the primary prevention of breast cancer remains bilateral mastectomy. In the current paper, I review the evidence regarding the management of healthy BRCA mutation carriers, including key risk factors and protective factors, and also discuss potential chemoprevention options. I also provide an overview of the key findings from the literature published to date, with a focus on data from studies that are well-powered, and preferably prospective in nature.

Keywords: BRCA; breast cancer; prevention.

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Conflict of interest statement

The author declares no conflict of interest.

References

    1. Kuchenbaecker K.B., Hopper J.L., Barnes D.R., Phillips K.A., Mooij T.M., Roos-Blom M.J., Jervis S., van Leeuwen F.E., Milne R.L., Andrieu N., et al. Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers. JAMA. 2017;317:2402–2416. doi: 10.1001/jama.2017.7112. - DOI - PubMed
    1. Chen S., Parmigiani G. Meta-analysis of BRCA1 and BRCA2 penetrance. J. Clin. Oncol. 2007;25:1329–1333. doi: 10.1200/JCO.2006.09.1066. - DOI - PMC - PubMed
    1. Ford D., Easton D.F., Bishop D.T., Narod S.A., Goldgar D.E. Risks of cancer in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Lancet. 1994;343:692–695. doi: 10.1016/S0140-6736(94)91578-4. - DOI - PubMed
    1. Antoniou A., Pharoah P.D., Narod S., Risch H.A., Eyfjord J.E., Hopper J.L., Loman N., Olsson H., Johannsson O., Borg A., et al. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: A combined analysis of 22 studies. Am. J. Hum. Genet. 2003;72:1117–1130. doi: 10.1086/375033. - DOI - PMC - PubMed
    1. Metcalfe K., Lynch H.T., Ghadirian P., Tung N., Kim-Sing C., Olopade O.I., Domchek S., Eisen A., Foulkes W.D., Rosen B., et al. Risk of ipsilateral breast cancer in BRCA1 and BRCA2 mutation carriers. Breast Cancer Res. Treat. 2011;127:287–296. doi: 10.1007/s10549-010-1336-7. - DOI - PubMed

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