title: Frequency of BRCA1 and BRCA2 mutations in unselected Ashkenazi Jewish patients with colorectal cancer.
abstract: Mutations in BRCA1 and BRCA2 that predispose to breast and ovarian cancer are detected in approximately 2.5% of the Ashkenazi Jewish population. To explore whether carriers of Ashkenazi founder mutations in BRCA1 or BRCA2 have an increased risk for colorectal cancer, we screened 586 unselected Ashkenazi Jewish case patients with colorectal cancer for the three common founder mutations in BRCA1 and BRCA2. We identified six carriers (1.02%) among these case patients. After adjusting for age at diagnosis and sex by use of logistic regression analysis, we compared the incidence of carriers in this group of 586 case patients with that of 5012 Ashkenazi Jewish control subjects without a known history of colorectal cancer. The presence of a founder BRCA mutation was not associated with the risk of colorectal cancer (relative risk = 0.50, 95% confidence interval = 0.22 to 1.14). We thus recommend that counseling for colorectal cancer screening and prevention in individuals with BRCA mutations be based on the personal and family history of colorectal cancer or associated syndromic malignancies.
authors.affiliation: Clinical Genetics Service, Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, NY 10021, USA.
authors.forename: Tomas
authors.initials: T
authors.lastname: Kirchhoff
authors.forename: Jaya M
authors.initials: JM
authors.lastname: Satagopan
authors.forename: Noah D
authors.initials: ND
authors.lastname: Kauff
authors.forename: Helen
authors.initials: H
authors.lastname: Huang
authors.forename: Prema
authors.initials: P
authors.lastname: Kolachana
authors.forename: Crystal
authors.initials: C
authors.lastname: Palmer
authors.forename: Hannah
authors.initials: H
authors.lastname: Rapaport
authors.forename: Khedoudja
authors.initials: K
authors.lastname: Nafa
authors.forename: Nathan A
authors.initials: NA
authors.lastname: Ellis
authors.forename: Kenneth
authors.initials: K
authors.lastname: Offit
mesh_terms: D000328:Adult; D000368:Aged; D016022:Case-Control Studies; D015179:Colorectal Neoplasms / Q000235:genetics* / Q000517:prevention & control; D004219:District of Columbia; D005260:Female; D018703:Founder Effect; D005787:Gene Frequency; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D006801:Humans; D007557:Israel; D007585:Jews / Q000235:genetics*; D016015:Logistic Models; D008297:Male; D008403:Mass Screening; D008875:Middle Aged; D009154:Mutation; D012107:Research Design; D018570:Risk Assessment