A 52-year-old woman with Lynch syndrome is counselled about risk-reducing surgery. Her endometrial biopsy is benign. Which statement about endometrial cancer risk in Lynch syndrome is CORRECT?

• A Lynch syndrome is caused by BRCA1/2 mutations and carries 10% lifetime endometrial risk
• B Lynch syndrome is caused by MLH1/MSH2/MSH6/PMS2 mutations and carries 40–60% lifetime endometrial risk ✓
• C Lynch syndrome primarily increases risk only in the endometrium with no colorectal association
• D Prophylactic hysterectomy is not recommended due to high surgical risk

Explanation

Lynch syndrome (hereditary nonpolyposis colorectal cancer) is caused by germline mutations in DNA mismatch repair genes — predominantly MLH1, MSH2, MSH6, and PMS2. MSH6 mutations carry the highest relative risk for endometrial cancer (40–60% lifetime risk), which may actually exceed the colorectal cancer risk in women. Risk-reducing bilateral salpingo-oophorectomy and hysterectomy are recommended for Lynch syndrome carriers who have completed childbearing.

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

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.