Most commonly Lynch syndrome patients develop bowel cancer (therefore the historic name Hereditary Non-Polyposis Colorectal Cancer, or HNPCC syndrome), women with Lynch syndrome frequently develop cancer of uterus. However, many other Lynch syndrome cancer manifestations, such as stomach, ovarian, brain, skin cancer, have been described as well.
Microsatellite instability is the major molecular hallmark of Lynch syndrome-associated cancers. Therefore, all features of MSI cancer associated with sporadic setting, namely high mutational load, strong tumor immunogenicity and good prognosis, are also observed in Lynch syndrome. But in comparison to sporadic MSI cancer patients, Lynch syndrome patients are usually diagnosed with cancer at a younger (mostly below the age of 50).
Unlike the sporadic setting, in Lynch syndrome it is possible to predict cancer predisposition in unaffected individuals from Lynch syndrome families by testing them for pathogenic mutations. Therefore, cancer preventive strategies can be applied in order to reduce the risk of cancer or to enhance the chances of detecting cancer at an early stage.