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• W2123278251 abstract "Hereditary non-polyposis colorectal cancer (HNPCC) is an autosomal dominant syndrome characterised by a predisposition to early onset colorectal, endometrial and other cancers. The tumours typically exhibit microsatellite instability due to defective mismatch repair. HNPCC is classically caused by heterozygous loss-of-function mutations within the mismatch repair genes <i>MLH1</i>, <i>MSH2</i>, <i>MSH6</i> and <i>PMS2</i>, but no pathogenic mutations are identified in a third of cases. In recent years, constitutional epimutations of the <i>MLH1</i> gene, characterised by soma-wide allele specific promoter methylation and transcriptional silencing, have been identified in a handful of mutation negative HNPCC cases. In contrast to genetic mutations, <i>MLH1</i> epimutations are reversible between generations and thus display non-Mendelian inheritance. This review focuses on the aetiological role of constitutional <i>MLH1</i> epimutations in the development of HNPCC related cancers. The molecular characteristics, clinical ramifications and potential mechanism underlying this defect are discussed. Recommendations for the selection of cases warranting screening for <i>MLH1</i> epimutations are proffered." @default.
• W2123278251 created "2016-06-24" @default.
• W2123278251 creator A5074700925 @default.
• W2123278251 creator A5083863816 @default.
• W2123278251 date "2009-06-29" @default.
• W2123278251 modified "2023-09-25" @default.
• W2123278251 title "Constitutional (germline) MLH1 epimutation as an aetiological mechanism for hereditary non-polyposis colorectal cancer" @default.
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• W2123278251 cites W1975039405 @default.
• W2123278251 cites W1977992852 @default.
• W2123278251 cites W1982952959 @default.
• W2123278251 cites W1985184859 @default.
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• W2123278251 doi "https://doi.org/10.1136/jmg.2009.068122" @default.
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