Oncology Medical News about risk of colorectal neoplasia;adenomatous polyposis coli E1317Q variant

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Risk of colorectal neoplasia associated with the adenomatous polyposis coli E1317Q variant
Annals of Oncology, 06/02/09

Hall MJ et al. - In a study to investigate the risk of colorectal neoplasia associated with a variant of the adenomatous polyposis coli (APC E1317Q) gene within a clinic-based cohort, it was shown that 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.

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

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.
When stratified by neoplasia type, adenoma risk was significantly elevated in carriers but colorectal cancer risk was not.
After adjustment, the E1317Q variant remained a significant predictor of colorectal adenoma.

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