Prevalence and predictors of BRCA1 and BRCA2 mutations in a population-based study of breast cancer in white and black american women ages 35 to 64 years

• Published in: Cancer research (Chicago, Ill.) Vol. 66; no. 16; pp. 8297 - 8308
• Main Authors: MALONE, Kathleen E, DALING, Janet R, STROM, Brian L, BURKMAN, Ronald T, URSIN, Giske, DEAPEN, Dennis, WEISS, Linda K, FOLGER, Suzanne, MADEOY, Jennifer J, FRIEDRICHSEN, Danielle M, SUTER, Nicola M, HUMPHREY, Mariela C, DOODY, David R, SPIRTAS, Robert, OSTRANDEL, Elaine A, HSU, Li, BERNSTEIN, Leslie, COATES, Ralph J, MARCHBANKS, Polly A, SIMON, Michael S, MCDONALD, Jill A, NORMAN, Sandra A
• Format: Journal Article
• Language: English
• Published: Philadelphia, PA American Association for Cancer Research 15.08.2006
• Subjects: Adult; Antineoplastic agents; Biological and medical sciences; Black or African American; Black People - statistics & numerical data; BRCA1 Protein - genetics; BRCA2 Protein - genetics; Breast Neoplasms - blood; Breast Neoplasms - epidemiology; Breast Neoplasms - genetics; Case-Control Studies; Female; Gynecology. Andrology. Obstetrics; Humans; Mammary gland diseases; Medical sciences; Middle Aged; Mutation; Pharmacology. Drug treatments; Prevalence; Tumors; United States; White People - statistics & numerical data; United States; Human; Prevalence; Breast cancer; Malignant tumor; Epidemiology; Ethnic group; Mammary gland diseases; BRCA2 gene; Race; Adult; Female; Genetics; Mutation; Caucasoid; Predictive factor; Woman; BRCA1 gene; Age; Public health; African American; Tumor suppressor gene
• ISSN: 0008-5472; 1538-7445; 1538-7445
• DOI: 10.1158/0008-5472.CAN-06-0503

Although well studied in families at high-risk, the roles of mutations in the BRCA1 and BRCA2 genes are poorly understood in breast cancers in the general population, particularly in Black women and in age groups outside of the very young. We examined the prevalence and predictors of BRCA1 and BRCA2 mutations in 1,628 women with breast cancer and 674 women without breast cancer who participated in a multicenter population-based case-control study of Black and White women, 35 to 64 years of age. Among cases, 2.4% and 2.3% carried deleterious mutations in BRCA1 and BRCA2, respectively. BRCA1 mutations were significantly more common in White (2.9%) versus Black (1.4%) cases and in Jewish (10.2%) versus non-Jewish (2.0%) cases; BRCA2 mutations were slightly more frequent in Black (2.6%) versus White (2.1%) cases. Numerous familial and demographic factors were significantly associated with BRCA1 and, to a lesser extent, BRCA2 carrier status, when examined individually. In models considering all predictors together, early onset ages in cases and in relatives, family history of ovarian cancer, and Jewish ancestry remained strongly and significantly predictive of BRCA1 carrier status, whereas BRCA2 predictors were fewer and more modest in magnitude. Both the combinations of predictors and effect sizes varied across racial/ethnic and age groups. These results provide first-time prevalence estimates for BRCA1/BRCA2 in breast cancer cases among understudied racial and age groups and show key predictors of mutation carrier status for both White and Black women and women of a wide age spectrum with breast cancer in the general population.