title: Association of the I1307K APC mutation with hereditary and sporadic breast/ovarian cancer: more questions than answers.
abstract: The frequency of the APC I1307K mutation and its association with disease pattern was examined in 996 Ashkenazi women consisting of individuals with either sporadic (n = 382) or hereditary (n = 143) breast and/or ovarian cancer; asymptomatic BRCA1/2 mutation carriers (185delAG, 5382insC and 6174delT) (n= 53) and healthy controls (n= 418). The I1307K allele was equally distributed among women with sporadic (17/382; 4.6%) and inherited (10/143; 7%) breast and/or ovarian cancer irrespective of their being diagnosed before or after 42 years of age and among asymptomatic (7/53; 13.2%) and cancer manifesting BRCA1/2 carriers (10/143; 7%). Taken together, the prevalence of the I1307K allele was significantly higher in BRCA1/2 carriers compared to non-BRCA1/2 carriers (17/196; 8.7% and 40/800, 5%; respectively). The high prevalence of the I1307K allele among BRCA1/2 carriers is not associated with increased cancer risk but seems to be genetically connected because of Jewish ancestry.
authors.affiliation: Department of Genetics, Rambam Medical Center, Bruce Rappoport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.
authors.forename: R
authors.initials: R
authors.lastname: Gershoni-Baruch
authors.forename: Y
authors.initials: Y
authors.lastname: Patael
authors.lastname: Dagan
authors.forename: A
authors.initials: A
authors.lastname: Figer
authors.forename: L
authors.initials: L
authors.lastname: Kasinetz
authors.forename: E
authors.initials: E
authors.lastname: Kadouri
authors.forename: R
authors.initials: R
authors.lastname: Bruchim Bar Sade
authors.forename: E
authors.initials: E
authors.lastname: Friedman
mesh_terms: D025601:Adenomatous Polyposis Coli Protein; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D019313:BRCA1 Protein / Q000235:genetics; D024682:BRCA2 Protein; D001943:Breast Neoplasms / Q000235:genetics*; D003598:Cytoskeletal Proteins / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics; D010051:Ovarian Neoplasms / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics
chemical_list: D025601:Adenomatous Polyposis Coli Protein; D019313:BRCA1 Protein; D024682:BRCA2 Protein; D003598:Cytoskeletal Proteins; D005819:Genetic Markers; D009363:Neoplasm Proteins; D014157:Transcription Factors