Lynch syndrome [7 genes]
Lynch syndrome is caused by mutations in one of the mismatch repair (MMR) genes, mainly in MLH1, MSH2, MSH6, PMS2, and EPCAM. This syndrome predisposes towards different types of cancer, mainly colorectal (CRC) and uterine. The risk of suffering CRC during a person’s lifetime varies between 10% and 80%, depending on the gene which is altered.
Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.