Lynch syndrome (hereditary non-polyposis colorectal cancer, HNPCC) is associated with endometrial carcinoma. The gene most frequently mutated in Lynch syndrome-associated endometrial cancer is:

• A BRCA1
• B TP53
• C MLH1 ✓
• D PTEN

Explanation

Lynch syndrome results from germline mutations in mismatch repair (MMR) genes: MLH1 (most common, ~40%), MSH2 (~30%), MSH6, and PMS2. MLH1 is the most frequently mutated gene, and its promoter methylation also accounts for sporadic MSI-H endometrial cancers. Women with Lynch syndrome have a 40–60% lifetime risk of endometrial cancer (equal to or greater than colorectal cancer risk). BRCA1/2 are associated with ovarian and breast cancer; TP53 with serous carcinomas; PTEN mutations are the most common somatic mutation in sporadic Type I endometrial cancer.

Reference: Shaw's Textbook of Gynaecology, 17th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.