Hereditary diffuse gastric cancer: One family’s story
نویسندگان
چکیده
Hereditary diffuse gastric cancer (HDGC) is an inherited form of gastric cancer that carries a poor prognosis. Most HDGCs are caused by an autosomal dominant genetic mutation in the CDH1 gene, which carries a 70%-80% lifetime risk of gastric cancer. Given its submucosal origin, endoscopic surveillance is an unreliable means of early detection, and prophylactic gastrectomy is recommended for CDH1 positive individuals older than age 20 years. We describe the case of a male with recurrent gastric cancer who was diagnosed with HDGC secondary to the CDH1 mutation, and we also describe the patient's pedigree and outcomes of recommended genetic testing.
منابع مشابه
Prophylactic gastrectomy in familial gastric cancer: case report and review of literature
Absract Gastric cancer is the fourth most common cancer and the second leading cause of cancer death. Most cases are sporadic and only 10% of patients, show familial clustering. Among these patients, 1 to 3 % have hereditary diffuse gastric cancer (HDGC), which is autosomal-dominant and present in younger ages. Mutations in Ecadherin gene CDH1 has been identified in 30 to 50% of patient...
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