Deleterious BRCA1/2 mutations in an urban population of Black women.

MedStar author(s):
Citation: Breast Cancer Research & Treatment. 153(1):201-9, 2015 Aug.PMID: 26250392Institution: Washington Cancer InstituteForm of publication: Journal ArticleMedline article type(s): Journal Article | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov'tSubject headings: *African Continental Ancestry Group/ge [Genetics] | *Genes, BRCA1 | *Genes, BRCA2 | *Mutation | *Population Surveillance | *Urban Population | Adult | Aged | District of Columbia/eh [Ethnology] | District of Columbia/ep [Epidemiology] | Female | Genetic Counseling | Genetic Testing | Hereditary Breast and Ovarian Cancer Syndrome/ep [Epidemiology] | Hereditary Breast and Ovarian Cancer Syndrome/ge [Genetics] | Humans | Middle Aged | Prognosis | Registries | Retrospective Studies | Triple Negative Breast Neoplasms/ep [Epidemiology] | Triple Negative Breast Neoplasms/ge [Genetics] | Young AdultYear: 2015ISSN:
  • 0167-6806
Name of journal: Breast cancer research and treatmentAbstract: 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.All authors: DeMarco T, Fries M, Isaacs C, Lynce F, Peshkin BN, Smith KL, Stein J, Wang H, Wang YFiscal year: FY2016Digital Object Identifier: Date added to catalog: 2016-05-24
Holdings
Item type Current library Collection Call number Status Date due Barcode
Journal Article MedStar Authors Catalog Article 26250392 Available 26250392

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.

English

Powered by Koha