Lynch or Not Lynch? Is that Always a Question?
作者： Chrystelle Colas , Florence Coulet , Magali Svrcek , Ada Collura , Jean-François Fléjou
DOI: 10.1016/B978-0-12-394280-7.00004-X
关键词: Bioinformatics 、 Germline 、 Cancer research 、 DNA mismatch repair 、 Colorectal cancer 、 Lynch syndrome 、 Medicine 、 Germline mutation 、 Phenotype 、 Genetic testing 、 Microsatellite instability
摘要: The familial cancer syndrome referred to as Lynch I and II was renamed hereditary nonpolyposis colorectal (HNPCC) only revert later (LS). LS is the most frequent human predisposition for development of (CRC), probably also endometrial gastric cancers, although it has yet acquire a consensus name. Its estimated prevalence ranges widely from 2% 7% all CRCs due fact that tumors patients with are difficult recognize at both clinical molecular level. This review based on two assumptions. First, inherit develop CRC (without polyposis) and/or other spectrum. Second, have germline defect in one DNA mismatch repair (MMR) genes. When somatic second hit inactivates relevant MMR gene, consequence instability repeat sequences such microsatellites having microsatellite (MSI) phenotype. However, some inherited without concurrent polyposis, termed HNPCC, found non-LS patients, while not MSI cases. therefore junction We describe here defining characteristics differentiate them non-MSI non-inherited tumors.
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