Which gene is associated with Peutz-Jeghers Syndrome?

Peutz-Jeghers Syndrome is a genetic condition characterized by the development of hamartomatous polyps in the gastrointestinal tract and melanin spots on the skin and mucous membranes. The syndrome is primarily associated with mutations in the STK11 gene, which is a tumor suppressor gene involved in cellular signaling pathways that regulate cell metabolism and growth.

Mutations in STK11 lead to the loss of its tumor suppressor function, contributing to the increased risk of developing various types of cancers, particularly gastrointestinal cancers. The association with STK11 is significant because it aids in both diagnosing the syndrome and informing surveillance strategies for associated cancers in affected individuals.

The other genes listed are associated with different conditions or cancers. MLH1 is primarily related to Lynch syndrome, which involves hereditary nonpolyposis colorectal cancer. CDKN2A is associated with familial melanoma and certain pancreatic cancers, while FLCN is linked to Birt-Hogg-Dubé syndrome, which can cause skin tumors and lung cysts. Understanding these associations can help genetic counselors provide accurate risk assessments and management plans for patients and families.