The Gene Variant MLH1*D132H is Not Associated with an Increased Risk for Colorectal Adenomas in a Suburban United States Jewish Population

Abstract

Background: MLH*D132H, a variant of the mismatch repair gene MLH1, was reported linked to an increased risk for colorectal carcinoma in Israeli patients. We evaluated U.S. Jewish patients with adenomas for this gene variant and compared the results to that of three other minor variants. Methods: DNA was screened for the MLH1*D132H variant using standard PCR followed by melting point analysis or by single-stranded conformation polymorphism. Results: Of the 632 patients screened there were three carriers among patients with adenomas and one carrier among those patients with no lesions for an incidence of 0.63% and a relative risk of 0.81 (C.I.=0.08-7.85, p=1.00). Conclusion: We did not detect a significant risk for colorectal adenoma in association with the MLH1*D132H variant. The personal, family history and germ line features of the carriers illustrate the complexity of minor genetic determinants.