Abstract
Lynch syndrome (LS) is characterized by an autosomal dominant inheritance of the early onset of colorectal cancer (CRC) and endometrial cancer, as well as increased risk for several other cancers including gastric, urinary tract, ovarian, small bowel, biliary tract, and brain tumors. The syndrome is due to a mutation in one of the four DNA mismatch repair (MMR) genes MLH1, MSH2, MSH6, or PMS2. The majority of LS patients and families can now be identified, and the underlying mutation detected using genetic diagnostics. Regular surveillance for CRC and endometrial cancer has proved beneficial for mutation carriers. However, screening for other tumors is also recommended even though experiences in the screening of these tumors is limited. Prophylactic colectomy, prophylactic hysterectomy, and bilateral salpingo-oophorectomy may be reasonable options for selected patients with LS. This paper describes the features and management of LS.
Highlights
Lynch syndrome (LS), referred to as hereditary nonpolyposis colorectal cancer (HNPCC), is the most common form of hereditary colorectal cancer, accounting for 2–5% of all colorectal cancer (CRC) cases [1, 2]
The cancer predisposition in LS arises from germline mutations in any of the four DNA mismatch repair (MMR) genes MLH1, MSH2, MSH6, or PMS2 [3]
The mutation carriers are at high risk for developing CRC and endometrial cancer at a young age [4]
Summary
Lynch syndrome (LS), referred to as hereditary nonpolyposis colorectal cancer (HNPCC), is the most common form of hereditary colorectal cancer, accounting for 2–5% of all colorectal cancer (CRC) cases [1, 2]. The mutation carriers are at high risk for developing CRC and endometrial cancer at a young age [4]. Knowledge of the molecular genetic background of this syndrome has made it possible to develop molecular diagnostic methods, such as microsatellite instability (MSI) and immunohistochemical analysis, to identify cases with LS [9, 10]. Identification of these high-risk individuals is necessary so that screening programs can be initiated to prevent the development of cancers. Obtaining more data on the features and behavior of different tumors associated with LS is important in order to develop the management of these tumors. This paper reviews the clinicopathological features, diagnostic criteria, and management of LS
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