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Background
Approximately 10% of Lynch syndrome families have a mutation in MSH6 and fewer families have a mutation in PMS2. It is assumed that the cancer incidence is the same in families with mutations in MSH6 as in families with mutations in MLH1/MSH2 but that the disease tends to occur later in life, little is known about families with PMS2 mutations. This study reports on our findings on mutation type, cancer risk and age of diagnosis in MSH6 and PMS2 families..........cont'd
"Lynch syndrome is an autosomal dominantly inherited cancer syndrome
characterised by early onset epithelial cancers. Patients with Lynch
syndrome have an increased risk of developing malignancies during their
lifetime, at a mean age of disease onset that is significantly lower
than that observed in the general population. In addition to the high
risk of developing CRC, Lynch syndrome patients are also at risk of
developing malignancies in a variety of organs that include the uterus,
small bowel, stomach, ovary, bladder, pancreas and the urinary tract [2,3]."
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