Lynch syndrome (hereditary non-polyposis colorectal cancer) is associated with endometrial cancer. Which mismatch repair gene mutation most commonly predisposes to Lynch syndrome-associated endometrial carcinoma?
- A BRCA1
- B MLH1 ✓
- C PTEN
- D TP53
Correct answer: B. MLH1
Explanation
Lynch syndrome is caused by germline mutations in mismatch repair (MMR) genes: MLH1, MSH2, MSH6, and PMS2. MLH1 is the most commonly mutated gene. Women with Lynch syndrome have a 40–60% lifetime risk of endometrial cancer, making it as common as colorectal cancer in this syndrome. PTEN mutations cause Cowden syndrome (also associated with endometrial cancer). BRCA1 and TP53 are associated with ovarian and other cancers.
Reference: Shaw's Textbook of Gynaecology, 17th ed.
High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP
Written and medically reviewed by the StethoPrep medical team.