In Lynch syndrome (Hereditary Nonpolyposis Colorectal Cancer — HNPCC), which is the most common gynaecological cancer, and what is the lifetime risk in MMR gene mutation carriers?

• A Ovarian cancer; lifetime risk 40–60%
• B Cervical cancer; lifetime risk 15–20%
• C Endometrial cancer; lifetime risk 40–60% ✓
• D Endometrial cancer; lifetime risk 10–15%

Explanation

In Lynch syndrome (mutations in MLH1, MSH2, MSH6, PMS2, EPCAM), endometrial cancer is the most common gynaecological malignancy and may be the sentinel cancer in up to 50% of women. The lifetime risk of endometrial cancer in Lynch syndrome is approximately 40–60% (some estimates up to 71% for MSH6 mutations), compared to a general population risk of ~2–3%. Ovarian cancer risk is 10–12%. This mandates consideration of risk-reducing hysterectomy and BSO after childbearing. Annual endometrial sampling and transvaginal ultrasound surveillance is offered from age 30–35 for those not opting for surgery.

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

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Written and medically reviewed by the StethoPrep medical team.