The APC p.I1307K polymorphism is a significant risk factor for CRC in average risk Ashkenazi Jews

Ben Boursi, Tal Sella, Eliezer Liberman, Shiran Shapira, Maayan David, Diana Kazanov, Nadir Arber*, Sarah Kraus

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

42 Scopus citations

Abstract

Background: The p.I1307K adenomatous polyposis coli (APC) gene variant, prevalent among Ashkenazi Jews, may increase the risk for colorectal neoplasia. We studied the clinical importance of screening for this polymorphism in 3305 Israelis undergoing colonoscopy. Patients and methods: Clinical data regarding potential risk factors for colorectal cancer (CRC) were collected from individuals undergoing colonoscopic examination at the Tel-Aviv medical center. The APC p.I1307K was detected using real-time PCR (polymerase chain reaction) from DNA extracted from peripheral mononuclear cells. Results: The overall prevalence of the p.I1307K polymorphism was 8.0% (10.1% among Ashkenazi and 2.7% among Sephardic Jews, p < 0.001). The overall adjusted odds ratio (OR) for colorectal neoplasia among carriers was 1.51 (95% confidence intervals (CI), 1.16-1.98). Among average risk Ashkenazi Jews, the adjusted OR was 1.75 (95% CI 1.26-2.45). A multiplicative interaction was identified between Ashkenazi ethnicity and APC p.I1307K carrier status (PINTERACTION = 0.055). The histopathological features of adenomas and carcinomas did not differ between carriers and non-carriers. Conclusions: The APC p.I1307K gene variant is an important risk factor for colorectal neoplasia in average risk Ashkenazi Jews. Carriers in this group should be considered for screening colonoscopy at the age of 40, to be repeated every 5 years, similar to recommendations in individuals with family history of colorectal cancer.

Original languageEnglish
Pages (from-to)3680-3685
Number of pages6
JournalEuropean Journal of Cancer
Volume49
Issue number17
DOIs
StatePublished - Nov 2013

Funding

FundersFunder number
Israeli Ministry of Health
Tel-Aviv Medical Center

    Keywords

    • APC
    • Colorectal cancer
    • Polymorphism
    • Prevention
    • p.I1307K

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