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

 -  2015 
<br/><br/> 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. 
<br/><br/><br/>English 
<br/><br/><label>ISSN: </label>0167-6806 
<br/><br/><label>Subjects--Topical Terms: </label><br/>*African Continental Ancestry Group/ge [Genetics]<br/>*Genes, BRCA1<br/>*Genes, BRCA2<br/>*Mutation<br/>*Population Surveillance<br/>*Urban Population<br/>Adult<br/>Aged<br/>District of Columbia/eh [Ethnology]<br/>District of Columbia/ep [Epidemiology]<br/>Female<br/>Genetic Counseling<br/>Genetic Testing<br/>Hereditary Breast and Ovarian Cancer Syndrome/ep [Epidemiology]<br/>Hereditary Breast and Ovarian Cancer Syndrome/ge [Genetics]<br/>Humans<br/>Middle Aged<br/>Prognosis<br/>Registries<br/>Retrospective Studies<br/>Triple Negative Breast Neoplasms/ep [Epidemiology]<br/>Triple Negative Breast Neoplasms/ge [Genetics]<br/>Young Adult
<br/><br/><label>Subjects--Geographic Terms: </label><br/>Washington Cancer Institute
<br/><br/><label>Index Terms--Function: </label><br/>Journal Article<br/>Research Support, N.I.H., Extramural<br/>Research Support, Non-U.S. Gov't