Frequency of BRCA1 and BRCA2 mutations in unselected Ashkenazi Jewish patients with colorectal cancer Journal Article
| Authors: | Kirchhoff, T.; Satagopan, J. M.; Kauff, N. D.; Huang, H.; Kolachana, P.; Palmer, C.; Rapaport, H.; Nafa, K.; Ellis, N. A.; Offit, K. |
| Article 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. |
| Keywords: | adult; controlled study; human tissue; aged; middle aged; gene mutation; major clinical study; mutation; case-control studies; anamnesis; cancer risk; research design; cancer incidence; colorectal cancer; disease association; logistic models; gene frequency; cancer screening; mass screening; brca1 protein; brca2 protein; heterozygote; age; risk assessment; colorectal neoplasms; confidence interval; genes, brca1; genes, brca2; family history; israel; gender; logistic regression analysis; founder effect; jews; patient counseling; jew; frequency analysis; humans; human; male; female; priority journal; article; district of columbia |
| Journal Title: | JNCI: Journal of the National Cancer Institute |
| Volume: | 96 |
| Issue: | 1 |
| ISSN: | 0027-8874 |
| Publisher: | Oxford University Press |
| Date Published: | 2004-01-07 |
| Start Page: | 68 |
| End Page: | 70 |
| Language: | English |
| PROVIDER: | scopus |
| PUBMED: | 14709740 |
| DOI: | 10.1093/jnci/djh006 |
| DOI/URL: | |
| Notes: | J. Natl. Cancer Inst. -- Cited By (since 1996):36 -- Export Date: 16 June 2014 -- CODEN: JNCIA C2 - 14709740 -- Source: Scopus |
