[Study on the relationship between genetic polymorphism Val384Asp in hMLH1 gene and the risk of four different carcinomas].

Objective: To investigate the association of genetic polymorphism Val384Asp in hMLH1 gene with the risk of colorectal, gastric, esophageal and breast carcinomas.

Methods: A case-control study was taken to investigate the role of Val384Asp in hMLH1 gene in developing these four carcinomas. 233 colorectal, 273 gastric, 90 esophageal and 111 breast cancer patients were included, as well as 268 healthy individual served as controls. Peripheral white blood cell DNA was obtained from all subjects. hMLH1 gene Val384Asp was analysed using a PCR-based DHPLC while the existence of Val384Asp were verified by DNA sequencing.

Results: 6.34% of the healthy individuals were identified as Val384Asp carriers and significant differences existing between colorectal cancer patients or gastric cancer patients and controls, especially between young aged patients and controls.

Conclusion: Determination of Val384Asp in hMLH1 gene single nucleotide polymorphism seemed to be suitable for identifying individuals with increased risk of gastrointestinal cancer in the Chinese population.