Which of the following mutation seen in Cowden syndrome?
Ans. b. PTEN mutationRef: Robbins and Cotran Pathologic Basis of Disease 9th Ed; Page No-291Tumor suppressor genes and associated with syndromesGeneProteinFunctionFamilial syndromesPTCHPatchedInhibitor of Hedgehog signalingGorlin syndrome (basal cell carcinoma, medulloblastoma, several benign tumors)PTENPhosphatase and tensin homologueInhibitor of PI3K/AKT signalingCowden syndrome (variety of benign skin, Gl, and CNS growths; breast, endometrial, and thyroid carcinoma)STK11Liver kinase B1 (LKB1) or STK11Activator of AMPK family of kinases; suppresses cell growth when cell nutrient and energy levels are lowPeutz-Jeghers syndrome (Gl polyps, Gl cancers, pancreatic carcinoma and other carcinomas)SMAD4SMAD4Component of the TGFP signaling pathway, repressors of MYC and CDK4 expression, inducers of CDK inhibitor expressionJuvenile polyposis, pancreatic carcinoma
PTCH mutation
PTEN mutation
STK11 mutation
SMAD4 mutation
Neoplasia