title: Deleterious BRCA1/2 mutations in an urban population of Black women.
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.
authors.affiliation: Division of Hematology/Oncology, Lombardi Comprehensive Cancer Center, MedStar Georgetown University Hospital, 3800 Reservoir Rd NW Podium C, Washington, DC, 20007, USA, filipa.c.lynce@gunet.georgetown.edu.
authors.forename: Filipa
authors.initials: F
authors.lastname: Lynce
authors.forename: Karen Lisa
authors.initials: KL
authors.lastname: Smith
authors.forename: Julie
authors.initials: J
authors.lastname: Stein
authors.forename: Tiffani
authors.initials: T
authors.lastname: DeMarco
authors.forename: Yiru
authors.initials: Y
authors.lastname: Wang
authors.forename: Hongkun
authors.initials: H
authors.lastname: Wang
authors.forename: Melissa
authors.initials: M
authors.lastname: Fries
authors.forename: Beth N
authors.initials: BN
authors.lastname: Peshkin
authors.forename: Claudine
authors.initials: C
authors.lastname: Isaacs
mesh_terms: D000328:Adult; D000368:Aged; D044383:Black People / Q000235:genetics*; D004219:District of Columbia / Q000453:epidemiology / Q000208:ethnology; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D005817:Genetic Counseling; D005820:Genetic Testing; D061325:Hereditary Breast and Ovarian Cancer Syndrome / Q000453:epidemiology / Q000235:genetics; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D011159:Population Surveillance; D011379:Prognosis; D012042:Registries; D012189:Retrospective Studies; D064726:Triple Negative Breast Neoplasms / Q000453:epidemiology / Q000235:genetics; D014505:Urban Population; D055815:Young Adult; D001741:Black or African American