Risk of colorectal neoplasia associated with the adenomatous polyposis coli E1317Q variant

M. J. Hall, E. Liberman, O. Dulkart, L. Galazan, E. Sagiv, E. Shmueli, D. Kazanov, A. Hallak, M. Moshkowitz, A. Figer, S. Kraus, M. Inbar, A. I. Neugut, N. Arber

Research output: Contribution to journalArticlepeer-review

10 Scopus citations

Abstract

Background: Reports of the risk of colorectal neoplasia associated with a variant of the adenomatous polyposis coli (APC E1317Q) gene are conflicting. Using a case-control design, we investigated this relationship within a clinic-based cohort followed through the Integrated Cancer Prevention Center and the Tel-Aviv Sourasky Medical Center. Materials and Methods: All study subjects were tested for the APC E1317Q variant at enrollment. Subjects underwent colonoscopic evaluation (±biopsy and/or polypectomy) and had cancer history and colorectal neoplasia risk factors assessed. The crude and adjusted risks of neoplasia associated with the E1317Q variant were calculated. Results: The prevalence of the E1317Q variant was 1.4% in the entire study sample and 3.2% in Sephardic Jews. E1317Q was more prevalent among cases: 15 of 458 (3.3%) cases were carriers compared with 11 of 1431 (0.8%) controls [odds ratio (OR) 4.4, 95% CI 2.0-9.6]. When stratified by neoplasia type, adenoma risk was significantly elevated in carriers (OR 4.1, 95% CI 1.8-9.4) but colorectal cancer risk was not (OR 2.1, 95% CI 0.8-5.3). After adjustment, the E1317Q variant remained a significant predictor of colorectal adenoma (OR 4.6, 95% CI 2.0-10.8). Conclusions: The APC E1317Q variant is associated with colorectal neoplasia, particularly colorectal adenomas, but further studies are still needed. Variant prevalence is elevated in Sephardic Jews.

Original languageEnglish
Pages (from-to)1517-1521
Number of pages5
JournalAnnals of Oncology
Volume20
Issue number9
DOIs
StatePublished - 2009

Keywords

  • APC gene
  • Colorectal cancer
  • E1317Q
  • Hereditary risk

Fingerprint

Dive into the research topics of 'Risk of colorectal neoplasia associated with the adenomatous polyposis coli E1317Q variant'. Together they form a unique fingerprint.

Cite this