CDKN2A Germline Mutations in Familial Pancreatic Cancer

Germline mutations in Japanese familial pancreatic cancer patients

Clinicopathologic and genetic features of familial pancreatic cancer (FPC) in Asian countries remain largely unknown. The main purpose of this study was to determine the prevalence of FPC and to define causative FPC-predisposition genes in a Japanese cohort with pancreatic ductal adenocarcinoma (PDAC).We reviewed 1,197 patients with a pathologically proven PDAC and found that 88 (7.3%) were FPC...

No evidence of germline PTEN mutations in familial prostate cancer

Germline Mutations in MAP3K6 Are Associated with Familial Gastric Cancer

Gastric cancer is among the leading causes of cancer-related deaths worldwide. While heritable forms of gastric cancer are relatively rare, identifying the genes responsible for such cases can inform diagnosis and treatment for both hereditary and sporadic cases of gastric cancer. Mutations in the E-cadherin gene, CDH1, account for 40% of the most common form of familial gastric cancer (FGC), h...

No evidence of germline PTEN mutations in familial prostate cancer.

No evidence of germline PTEN mutations in familial prostate cancer EDITOR—Prostate cancer is the second most common cause of male cancer mortality in the UK. 1 Current indications are that like many common cancers, prostate cancer has an inherited component. 2 Segregation analysis has led to the proposed model of at least one highly penetrant, dominant gene (with an estimated 88% penetrance for...

Germline E-cadherin mutations in familial lobular breast cancer.

BACKGROUND The cell surface glycoprotein E-cadherin (CDH1) is a key regulator of adhesive properties in epithelial cells. Germline mutations in CDH1 are well established as the defects underlying hereditary diffuse gastric cancer (HDGC) syndrome, and an increased risk of lobular breast cancer (LBC) has been described in HDGC kindreds. However, germline CDH1 mutations have not been described in ...