Endometrial carcinoma is associated with which of the following suppression gene mutation
Correct Answer: PTEN
Description: Ref Robbins 8/e p294; 9/e p298 The endometrioid type accounts for 80% of cases of endo- metrial carcinomas. These tumors are designated endome- trioid because of their histologic similarity to normal endometrial glands. Risk factors for this type of carcinoma include (1) obesity, (2) diabetes, (3) hypeension, (4) infeil- ity, and (5) exposure to unopposed estrogen. Many of these risk factors result in increased estrogenic stimulation of the endometrium and are associated with endometrial hyperpla- sia. In fact, it is well recognized that prolonged estrogen replacement therapy and estrogen-secreting ovarian tumors increase the risk of endometrioid type of endometrial carci- noma. Additionally, breast carcinoma (which also is estrogen- dependent) occurs in women with endometrial cancer (and vice versa) more frequently than by chance alone. Muta- tions in mismatch repair genes and the tumor sup- pressor gene PTEN are early events in the stepwise development of endometrioid carcinoma. Women with germline mutations in PTEN (Cowden syndrome) are at high risk for this cancer. TP53 mutations occur but are rela- tively uncommon and are believed to be late events in the genesis of this tumor type. The serous type of endometrial carcinoma is much less common, accounting for roughly 15% of tumors. Nearly all cases have mutations in the TP53 tumor suppressor gene, whereas mutations in DNA mismatch repair genes and PTEN are rare.
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