Germ line polymorphisms in cytochrome-P450 1A1 (C4887 CYP1A1) and methylenetetrahydrofolate reductase (MTHFR) genes and endometrial cancer susceptibility.

Abstract

We describe here a case-control study to identify associations between polymorphisms at the methylenetetrahydrofolate reductase (MTHFR) and cytochrome P-450 1A1 (CYP1A1) genes and susceptibility to endometrial cancer. Accordingly, genotype frequencies in 80 endometrial carcinoma patients were compared with frequencies in 60 controls. DNA analysis suggest a significantly increased endometrial cancer risk with an alanine to valine substitution at nucleotide 677 of MTHFR gene with an odds ratio of 2.8 (95% confidence interval: 1.36-6.14, P = 0.002). Moreover, the tumors from patients with the valine allele were more undifferentiated (P = 0.03). On the other hand, a recently described mutation in exon 7 of CYP1A1 gene (threonine exchanged to asparagine in codon 461) showed a strong association with endometrial cancer risk with an odds ratio of 6.36 (95% confidence interval: 1.99-26.5, P = 0.0004). Thus, this study suggests that polymorphisms at MTHFR and a novel CYP1A1 variant could influence susceptibility to endometrial cancer, although larger sample sizes would be required to corroborate these findings.

• Authors: M Esteller, A Garcia, J M Martinez-Palones, J Xercavins, J Reventos
• Journal: Carcinogenesis (Carcinogenesis) Vol. 18 Issue 12 Pg. 2307-11 (Dec 1997) ISSN: 0143-3334 [Print] England
• PMID: 9450474 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Cytochrome P-450 CYP1A1
• Oxidoreductases Acting on CH-NH Group Donors
• Methylenetetrahydrofolate Reductase (NADPH2)

Topics

• Carcinoma (genetics)
• Cytochrome P-450 CYP1A1 (genetics)
• Endometrial Neoplasms (genetics)
• Female
• Gene Frequency
• Germ-Line Mutation
• Humans
• Methylenetetrahydrofolate Reductase (NADPH2)
• Oxidoreductases Acting on CH-NH Group Donors (genetics)
• Point Mutation
• Polymorphism, Genetic