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. (C) 2000 Cancer Research Campaign.
Bibliographical noteFunding Information:
This work was performed in partial fulfillment of the requirements for the Ph.D. degree from the Sackler School of Medicine at the Tel-Aviv University for Yael Patael. This study was partially supported by the ICRF fund and the MECC to Dr Eitan Friedman.
- Breast cancer
- I1307K polymorphism
- Ovarian cancer
ASJC Scopus subject areas
- Cancer Research