Journal
BRITISH JOURNAL OF CANCER
Volume 84, Issue 4, Pages 475-477Publisher
NATURE PUBLISHING GROUP
DOI: 10.1054/bjoc.2000.1598
Keywords
Ashkenazi Jews; colorectal cancer; BRCA1; BRCA2; 185delAG; 5382insC; 617delT; inherited predisposition
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It is presently unclear whether carriers of BRCA1 mutations have an increased risk for colorectal cancer (CRC). To gain insight into this issue, 225 unselected Ashkenazi Jewish CRC patients were tested for the presence of the three common Jewish BRCA1/2 germline mutations: 185delAG and 5382insC (BRCA1) and 6174delT (BRCA2). A total of four carriers was found (4/225, 1.78%). This frequency is similar to the estimated normal Ashkenazi population frequency, thus suggesting that these specific mutations do not contribute to CRC predisposition. (C) 2001 Cancer Research Campaign.
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