Update on Lynch syndrome genomics

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http://hdl.handle.net/10138/164698

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Peltomäki , P 2016 , ' Update on Lynch syndrome genomics ' , Familial Cancer , vol. 15 , no. 3 , pp. 385-393 . https://doi.org/10.1007/s10689-016-9882-8

Title: Update on Lynch syndrome genomics
Author: Peltomäki, Päivi
Contributor: University of Helsinki, Medicum
Date: 2016-07
Language: eng
Number of pages: 9
Belongs to series: Familial Cancer
ISSN: 1389-9600
URI: http://hdl.handle.net/10138/164698
Abstract: Four main DNA mismatch repair (MMR) genes have been identified, MLH1, MSH2, MSH6, and PMS2, which when mutated cause susceptibility to Lynch syndrome (LS). LS is one of the most prevalent hereditary cancer syndromes in man and accounts for 1-3 % of unselected colorectal carcinomas and some 15 % of those with microsatellite instability and/or absent MMR protein. The International Society for Gastrointestinal Hereditary Tumours (InSiGHT) maintains a database for LS-associated mutations since 1996. The database was recently reorganized to efficiently gather published and unpublished data and to classify the variants according to a five-tiered scheme linked to clinical recommendations. This review provides an update of germline mutations causing susceptibility to LS based on information available in the InSiGHT database and the latest literature. MMR gene mutation profiles, correlations between genotype and phenotype, and possible mechanisms leading to the characteristic spectrum of tumors in LS are discussed in light of the different functions of MMR proteins, many of which directly serve cancer avoidance.
Subject: Lynch syndrome
Mutation
Epimutation
Tumor spectrum
DNA mismatch repair
NONPOLYPOSIS COLORECTAL-CANCER
DNA-MISMATCH-REPAIR
MICROSATELLITE INSTABILITY
MUTATION CARRIERS
GERMLINE MUTATIONS
COLON-CANCER
ENDOMETRIAL CANCER
MOLECULAR ANALYSIS
DEFICIENT MICE
GENE-MUTATIONS
3111 Biomedicine
3122 Cancers
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