Hereditary uterine cancer [6 genes]
It is estimated that currently only 2-5% of uterine cancer cases are hereditary. However, the risk of developing said cancer when a familial syndrome exists can be up to 50%. Syndromes that have a larger predisposition to a higher risk of uterine tumors are Lynch syndrome (25-50%), caused by the mutation of mismatch repair (MMR) genes, such as MLH1, MSH2, MSH6, PMS2, and EPCAM, and Cowden syndrome (5-28%), caused bya mutation in PTEN, with a dominant autosomal inheritance pattern.
- Our recommendation is to carry out the hereditary uterine cancer panel that includes the two most frequent syndromes associated with this type of tumor and for which recommended surveillance and risk reduction strategies exist for this type of pathologies.
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.