Article
Esophageal cancer in a family with hamartomatous tumors and germline PTEN frameshift and SMAD7 missense mutations.
Cancer genetics - 1 Jan 2000
Sherman Scott K, Maxwell Jessica E, Qian Qining, Bellizzi Andrew M, Braun Terry A, Iannettoni Mark D, Darbro Benjamin W, Howe James R
Abstract excerpt
Germline mutations in the PTEN tumor-suppressor gene cause autosomal-dominant conditions such as Cowden and Bannayan-Riley-Ruvalcaba syndromes with variable presentations, including hamartomatous gastrointestinal tumors, dermatologic abnormalities, neurologic symptoms, and elevated cancer risk. We describe a father and son with extensive hamartomatous gastrointestinal polyposis who both developed early-onset...
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