Highlights
- Gene-specific cancer risks in Lynch syndrome (LS) warrant individualised counselling.
- Personalised risk-reducing strategies should be offered to LS carriers.
- Hormone therapy may be considered for LS carriers with a personalised risk–benefit.
- Reproductive and assisted reproduction issues should be discussed with LS carriers.
- These Statements guide LS management, including addressing areas of uncertainty.
In the general female population, Endometrial Cancer and Ovarian Cancer lifetime risk is estimated to be 2.7% and 1.6%, respectively, while for LS women, the risk is significantly higher, up to 45.7% for EC and 13.4% for OC.
Additionally, LS women typically experience an earlier onset, often before 50 years. However, the estimated cumulative risks of EC and OC by age 40 remain low (1.1–2% for EC and 1.1–1.6% for OC). By age 75, the risk of developing EC in MLH1, MSH2 and MSH6 PVs/LPVs carriers increases to 45.7%, and the risk of OC reaches 13.4%. In contrast, carriers of PMS2 pathogenic variants have substantially lower risks (21.2% and 2.5% for EC and OC, respectively).
https://www.sciencedirect.com/science/article/pii/S0959804926005204
Lynch Syndrome Ireland 