Which of the following is not true about PTEN gene?: (A) It is the membrane associated phosphatase, (B) Encoded by gene located on chromosome 10q23, (C) It is mutated in endometrial, breast, thyroid carcinoma, (D) It acts as a proto-oncogene
Answer is D. PTEN (phosphatase and tensin homologue) Membrane-associated phosphatase encoded by a gene on chromosome 10q23 that is mutated in Cowden syndrome Autosomal dominant disorder C/F:- Marked by frequent benign growths, such as skin appendage tumors Increased incidence of epithelial cancers, paicularly of the breast, endometrium, and thyroid. PTEN acts as a tumor suppressor by serving as a brake on the PI3K/AKT arm of the receptor tyrosine kinase pathway. PTEN gene function is lost in many cancers through deletion, deleterious point mutations, or epigenetic silencing.