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

R. Gershoni-Baruch, Y. Patael, Dagan, A. Figer, L. Kasinetz, E. Kadouri, R. Bruchim Bar Sade, E. Friedman*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

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. (C) 2000 Cancer Research Campaign.

Original languageEnglish
Pages (from-to)153-155
Number of pages3
JournalBritish Journal of Cancer
Volume83
Issue number2
DOIs
StatePublished - 2000

Funding

FundersFunder number
Israel Cancer Research Fund
Mechanics Electronics Computer Corporation

    Keywords

    • APC
    • BRCA1
    • BRCA2
    • Breast cancer
    • I1307K polymorphism
    • Ovarian cancer

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