Lynch syndrome is linked to cancers of the gastrointestinal tract, including colon cancer, rectal cancer, and stomach (gastric) cancer, and cancers of the small intestine.
It also increases the risk of uterine (endometrial) cancer, ovarian cancer, and some cancers of the upper urinary tract.
People with Lynch syndrome have such a high risk of developing cancer because they carry a gene mutation that prevents their cells from being able to repair genetic damage. This leads to a condition called DNA mismatch repair deficiency (MMRd).
These MMRd cancers have a lot of mutations, which makes them visible to the immune system. Therefore, drugs that enlist the immune system to fight cancer cells are particularly effective. Past research from Dr. Diaz and others found that tumors with MMRd are more likely to respond to checkpoint inhibitors. Thanks to that discovery, these drugs are now widely used to treat patients whose tumors have MMRd, including those whose cancers are due to Lynch syndrome.
Lynch Syndrome Ireland 