Definition
Lynch syndrome is an autosomal dominantly inherited cancer susceptibility syndrome, characterized by cancers of multiple anatomic sites, of which colorectal cancer (CRC) is the most common. Mismatch repair (MMR) genes, inclusive of MLH2, MLH1, PMS2, and MSH6, in their mutant form are causal for the cancer phenotype (See also DNA Damage Response Genes, Mismatch Repair in Genetic Instability). More recently, it has been found that deletions in the EPCAM gene can silence MSH2 (Ligtenberg et al. 2009; Lynch et al. 2011) (See also EpCAM). Lynch syndrome appears to show genotypic and phenotypic heterogeneity. MSH2 mutations may predispose to a greater frequency of extracolonic cancers, while mutations in MSH6may result in a predominance of gynecologic cancer, particularly endometrial carcinoma, so that CRC may not pose the primary basis for Lynch syndrome diagnosis. Lynch syndrome is the most commonly occurring CRC...
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References
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Lynch, H. (2014). Lynch Syndrome. In: Schwab, M. (eds) Encyclopedia of Cancer. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-27841-9_3468-3
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DOI: https://doi.org/10.1007/978-3-642-27841-9_3468-3
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