Novel CDH1 germline mutations identified in Chinese gastric cancer patients.

ABSTRACT:

Aim

To give a comprehensive report of E-cadherin gene (CDH1) variations in a population at a high risk for gastric cancer (GC).

Methods

The samples consisted of 178 men and 58 women with a mean age of 62.3 ± 9.4 years and an age range of 30-84 years. A total of 240 cancer-free controls were recruited (mean age of 61.8 ± 10.1 years, age range of 26-82 years). Samples were screened for CDH1 germline mutations by high-resolution melting analysis or directly sequencing. Luciferase reporter assay, RNA splicing assay and bioinformatic analysis were used to evaluate the effect of mutations.

Results

Four novel CDH1 sequence alterations were identified in GC patients including a G>T transition 49 bp before the start codon; a three-nucleotide deletion, c.44_46del TGC; one misse

SUBMITTER: Chen QH 

PROVIDER: S-EPMC3574889 | biostudies-literature | 2013 Feb

REPOSITORIES: biostudies-literature