A 55-year-old woman with Lynch syndrome is found to have a germline MSH2 mutation. Which of the following malignancies is most strongly associated with this specific gene?

• A Endometrial cancer
• B Gastric cancer
• C Urothelial (transitional cell) carcinoma ✓
• D Ovarian cancer

Explanation

While all MMR gene mutations increase the risk of endometrial and gastrointestinal cancers, MSH2 mutations are particularly associated with a high risk of urinary tract transitional cell carcinomas (ureter and renal pelvis). This association is stronger than with MLH1 mutations. Endometrial cancer risk is high in all Lynch syndrome carriers, but urothelial carcinoma has a specific link to MSH2.

Reference: Bailey & Love's Short Practice of Surgery, 27th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.