The frequency of the predominant Jewish mutations in BRCA1 and BRCA2 in unselected Ashkenazi colorectal cancer patients.

Abstract:

: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.

journal_name

Br J Cancer

authors

Chen-Shtoyerman R,Figer A,Fidder HH,Rath P,Yeremin L,Bar Meir S,Friedman E,Theodor L

doi

10.1054/bjoc.2000.1598

subject

Has Abstract

pub_date

2001-02-01 00:00:00

pages

475-7

issue

4

eissn

0007-0920

issn

1532-1827

pii

S0007092000915982

journal_volume

84

pub_type

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