MedStar Authors catalog › Details for: Deleterious BRCA1/2 mutations in an urban population of Black women.
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Deleterious BRCA1/2 mutations in an urban population of Black women.

by Lynce, Filipa; Fries, Melissa.
Citation: Breast Cancer Research & Treatment. 153(1):201-9, 2015 Aug..Journal: Breast cancer research and treatment.ISSN: 0167-6806.Full author list: Lynce F; Smith KL; Stein J; DeMarco T; Wang Y; Wang H; Fries M; Peshkin BN; Isaacs C.UI/PMID: 26250392.Subject(s): Adult | *African Continental Ancestry Group/ge [Genetics] | Aged | District of Columbia/ep [Epidemiology] | District of Columbia/eh [Ethnology] | Female | *Genes, BRCA1 | *Genes, BRCA2 | Genetic Counseling | Genetic Testing | Hereditary Breast and Ovarian Cancer Syndrome/ep [Epidemiology] | Hereditary Breast and Ovarian Cancer Syndrome/ge [Genetics] | Humans | Middle Aged | *Mutation | *Population Surveillance | Prognosis | Registries | Retrospective Studies | Triple Negative Breast Neoplasms/ep [Epidemiology] | Triple Negative Breast Neoplasms/ge [Genetics] | *Urban Population | Young AdultInstitution(s): Washington Cancer InstituteActivity type: Journal Article.Medline article type(s): Journal Article | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov'tDigital Object Identifier: http://dx.doi.org/10.1007/s10549-015-3527-8 (Click here) Abbreviated citation: Breast Cancer Res Treat. 153(1):201-9, 2015 Aug.Abstract: Information on the prevalence of deleterious BRCA1 and BRCA2 (BRCA1/2) mutations in clinic-based populations of Black women is limited. In order to address this gap, we performed a retrospective study to determine the prevalence of deleterious BRCA1/2 mutations, predictors of having a mutation, and acceptance of risk-reducing surgeries in Black women. In an urban unselected clinic-based population, we evaluated 211 self-identified Black women who underwent genetic counseling for hereditary breast-ovarian cancer syndrome. BRCA1/2 mutations were identified in 13.4% of the participants who received genetic testing. Younger age at diagnosis, higher BRCAPRO score, significant family history, and diagnosis of triple-negative breast cancer were associated with identification of a BRCA1/2 mutation. Of the affected patients found to have a deleterious mutation, almost half underwent prophylactic measures. In our study population, 1 in 7 Black women who underwent genetic testing harbored a deleterious BRCA1/2 mutation independent of age at diagnosis or family history.

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