The gate-keeping role of surgeons with regard to endometrial cancers in Lynch syndrome
نویسنده
چکیده
After the discovery of Lynch syndrome in the 1960s [1], its definition started from hereditary nonpolyposis colorectal cancer (HNPCC) specifically focusing affected organs. However, affected organs include nearly the whole body the endometrium, ovary, ureter, stomach, pancreas, biliary system, small bowel, brain, and skin. The past several decades have shifted our focus from organs to genes. In the case of Lynch syndrome, mismatch repair genes (MLH1, MSH2, MSH6, and PMS2) and EPCAM play a role. Before gene discovery, several screening methods including family history, immunohistochemistry (IHC), microsatellite instability (MSI) and other criteria (Amsterdam [2] and Bethesda [3]) were developed to diagnose Lynch syndrome efficiently; some of these tools remain popular despite the development of gene based diagnostic tools.
منابع مشابه
Hereditary Nonpolyposis Colorectal Cancer (HNPCC)/Lynch Syndrome: Surveillance and Diagnostic strategies
Introduction: Hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) is an autosomal dominant genetic disease. The disease is caused by a mutation in one of four genes of the DNA mismatch repair system and increases the risk for various cancers, especially the uterine and colon cancers. The prevalence of this disease in the general population is about 1 in 500 and it causes about 2-3...
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