@article{5f6851170efe4c5e95f7c1c706d2c226,
title = "The APC p.I1307K polymorphism is a significant risk factor for CRC in average risk Ashkenazi Jews",
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.",
keywords = "APC, Colorectal cancer, Polymorphism, Prevention, p.I1307K",
author = "Ben Boursi and Tal Sella and Eliezer Liberman and Shiran Shapira and Maayan David and Diana Kazanov and Nadir Arber and Sarah Kraus",
note = "Funding Information: The study population included 3305 consecutive subjects, at average and high-risk for CRC. Subjects were prospectively enrolled through the Integrated Cancer Prevention Center in the Tel-Aviv Sourasky Medical Center (TASMC) from October 2000 to October 2010. Patients were also referred to the centre from the surgical and gastroenterology wards. The three main reasons for referral were screening in average risk asymptomatic population, screening in high risk population due to personal or family history of CR neoplasia and evaluation due to gastrointestinal symptoms. Therefore, wide spectrums of risk groups for CR neoplasia were enrolled. The study was approved by the Institutional Review Board of the Tel-Aviv Medical Center and the Israeli Ministry of Health. Written informed consent was obtained from all participants. Participation rate was over 90%. 2.2 ",
year = "2013",
month = nov,
doi = "10.1016/j.ejca.2013.06.040",
language = "אנגלית",
volume = "49",
pages = "3680--3685",
journal = "European Journal of Cancer",
issn = "0959-8049",
publisher = "Elsevier Ltd.",
number = "17",
}