Association of the I1307K APC mutation with hereditary and sporadic breast/ovarian cancer: more questions than answers

The frequency of the APC I1307K mutation and its association with disease p attern was examined in 996 Ashkenazi women consisting of individuals with e ither sporadic (n = 382) or hereditary (n = 143) breast and/or ovarian canc er; asymptomatic BRCA1/2 mutation carriers (185delAG, 5382insC and 6174delT ) (n = 53) and healthy controls (n = 418). The I1307K allele was equally di stributed among women with sporadic (17/382; 4.6%) and inherited (10/143; 7 %) breast and/or ovarian cancer irrespective of their being diagnosed befor e 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 o f the I1307K allele was significantly higher in BRCA1/2 carriers compared t o non-BRCA1/2 carriers (17/196; 8.7% and 40/800, 5%; respectively). The hig h prevalence of the I1307K allele among BRCA1/2. carriers is not associated with increased cancer risk but seems to be genetically connected because o f Jewish ancestry. (C) 2000 Cancer Research Campaign.