title: 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.
authors.affiliation: Gastroenterology Institute, Chaim Sheba Medical Center, Tel-Hashomer, 52621, Israel.
authors.forename: R
authors.initials: R
authors.lastname: Chen-Shtoyerman
authors.forename: A
authors.initials: A
authors.lastname: Figer
authors.forename: H H
authors.initials: HH
authors.lastname: Fidder
authors.forename: P
authors.initials: P
authors.lastname: Rath
authors.forename: L
authors.initials: L
authors.lastname: Yeremin
authors.forename: S
authors.initials: S
authors.lastname: Bar Meir
authors.forename: E
authors.initials: E
authors.lastname: Friedman
authors.forename: L
authors.initials: L
authors.lastname: Theodor
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D019313:BRCA1 Protein / Q000235:genetics*; D024682:BRCA2 Protein; D015179:Colorectal Neoplasms / Q000208:ethnology / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D005828:Genetics, Population; D018095:Germ-Line Mutation; D006801:Humans; D007585:Jews / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009363:Neoplasm Proteins / Q000235:genetics*; D016133:Polymerase Chain Reaction; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D019313:BRCA1 Protein; D024682:BRCA2 Protein; D009363:Neoplasm Proteins; D014157:Transcription Factors