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


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.
Hall
M J
MJ
Departments of Medicine and Epidemiology, College of Physicians and Surgeons, and the Mailman School of Public Health, Columbia University, New York, NY, USA.
Liberman
E
E
Integrated Cancer Prevention Center, Tel-Aviv Sourasky Medical Center; Department of Sackler Faculty of Medicine.
Dulkart
O
O
Integrated Cancer Prevention Center, Tel-Aviv Sourasky Medical Center; Department of Sackler Faculty of Medicine.
Galazan
L
L
Integrated Cancer Prevention Center, Tel-Aviv Sourasky Medical Center.
Sagiv
E
E
Integrated Cancer Prevention Center, Tel-Aviv Sourasky Medical Center; Department of Sackler Faculty of Medicine.
Shmueli
E
E
Department of Sackler Faculty of Medicine; Department of Oncology.
Kazanov
D
D
Integrated Cancer Prevention Center, Tel-Aviv Sourasky Medical Center.
Hallak
A
A
Department of Sackler Faculty of Medicine; Gastroenterology, Tel-Aviv Sourasky Medical Center, Tel-Aviv University, Tel Aviv, Israel.
Moshkowitz
M
M
Department of Sackler Faculty of Medicine; Gastroenterology, Tel-Aviv Sourasky Medical Center, Tel-Aviv University, Tel Aviv, Israel.
Figer
A
A
Department of Sackler Faculty of Medicine; Department of Oncology.
Kraus
S
S
Integrated Cancer Prevention Center, Tel-Aviv Sourasky Medical Center.
Inbar
M
M
Department of Sackler Faculty of Medicine; Department of Oncology.
Neugut
A I
AI
Departments of Medicine and Epidemiology, College of Physicians and Surgeons, and the Mailman School of Public Health, Columbia University, New York, NY, USA.
Arber
N
N
Integrated Cancer Prevention Center, Tel-Aviv Sourasky Medical Center; Gastroenterology, Tel-Aviv Sourasky Medical Center, Tel-Aviv University, Tel Aviv, Israel. Electronic address: narber@post.tau.ac.il.
D000236:Adenoma / Q000235:genetics; D025601:Adenomatous Polyposis Coli Protein / Q000235:genetics*; D016022:Case-Control Studies; D015179:Colorectal Neoplasms / Q000235:genetics*; D005260:Female; D017491:Genes, APC; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007585:Jews / Q000235:genetics; D008297:Male; D008875:Middle Aged; D020133:Reverse Transcriptase Polymerase Chain Reaction; D012307:Risk Factors
D025601:Adenomatous Polyposis Coli Protein