Panel testing reveals nonsense and missense CDH1 mutations in families without hereditary diffuse gastric cancer.

ABSTRACT:

Background

The reported penetrance of germline CDH1 mutations is high in families with hereditary diffuse gastric cancer (HDGC). Men and women have a 70% and 56%, respectively, cumulative risk of developing diffuse gastric cancer by age 80. Women additionally have a 42% cumulative risk of developing breast cancer. Due to the high penetrance of these mutations, prophylactic total gastrectomy is currently recommended for CDH1 mutation carriers. However, whether everyone with a CDH1 gene mutation is at risk for HDGC is not clear.

Methods

Mutation identification was performed by next-generation sequencing. Mutations and variant status was confirmed by Sanger sequencing in 11 family members.

Results

We present two families with pathogenic CDH1 mutations. The first family c

SUBMITTER: Huynh JM 

PROVIDER: S-EPMC4799867 | biostudies-literature | 2016 Mar

REPOSITORIES: biostudies-literature