Mutation screening of mismatch repair gene Mlh3 in familial esophageal cancer.

ABSTRACT:

Aim

To shed light on the possible role of mismatch repair gene Mlh3 in familial esophageal cancer (FEC).

Methods

A total of 66 members from 10 families suggestive of a genetic predisposition to hereditary esophageal cancer were screened for germline mutations in Mlh3 with denaturing high performance liquid chromatography (DHPLC), a newly developed method of comparative sequencing based on heteroduplex detection. For all samples exhibiting abnormal DHPLC profiles, sequence changes were evaluated by cycle sequencing. For any mutation in family members, we conducted a segregation study to compare its prevalence in sporadic esophageal cancer patients and normal controls.

Results

Exons of Mlh3 in all samples were successfully examined. Overall, 4 missense mutations and 3 p

SUBMITTER: Liu HX 

PROVIDER: S-EPMC4088192 | biostudies-literature | 2006 Sep

REPOSITORIES: biostudies-literature