What genetic mutation is associated with Hereditary Diffuse Gastric Cancer Syndrome?

Hereditary Diffuse Gastric Cancer Syndrome is primarily associated with mutations in the CDH1 gene. This syndrome is characterized by the development of diffuse gastric cancer and is also linked to lobular breast cancer. The CDH1 gene encodes a protein known as E-cadherin, which is crucial for cell adhesion in epithelial tissues. Mutations in CDH1 disrupt this function, leading to the invasive growth patterns seen in diffuse gastric cancer.

Understanding this connection is vital for genetic counseling and risk assessment in at-risk families. Individuals with a familial history of diffuse gastric cancer may undergo genetic testing for CDH1 mutations, as identifying such mutations can have significant implications for surveillance and prevention strategies, including prophylactic surgeries.

While other genes mentioned, like BRCA1 and TP53, are involved in different cancer susceptibilities, they do not have the same direct and specific association with Hereditary Diffuse Gastric Cancer Syndrome as CDH1 does. PTEN is linked to other genetic conditions such as Cowden syndrome and does not play a role in the etiology of this particular syndrome. Therefore, the identification of CDH1 mutations in individuals with a family history of diffuse gastric cancer is crucial for effective management and preventative measures.