Functional analysis of MSH2 unclassified variants found in suspected Lynch syndrome patients reveals...
Functional analysis of MSH2 unclassified variants found in suspected Lynch syndrome patients reveals pathogenicity due to attenuated mismatch repair
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Author / Creator
Wielders, Eva AL , Hettinger, Jan , Dekker, Rob , Kets, C Marleen , Ligtenberg, Marjolijn J , Mensenkamp, Arjen R , van den Ouweland, Ans MW , Prins, Judith , Wagner, Anja , Dinjens, Winand NM , Dubbink, Hendrikus Jan , van Hest, Liselotte P , Menko, Fred , Hogervorst, Frans , Verhoef, Senno and te Riele, Hein
Publisher
England: BMJ Publishing Group Ltd
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Language
English
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Publisher
England: BMJ Publishing Group Ltd
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Contents
Background Lynch syndrome, an autosomal-dominant disorder characterised by high colorectal and endometrial cancer risks, is caused by inherited mutations in DNA mismatch repair (MMR) genes. Mutations fully abrogating gene function are unambiguously disease causing. However, missense mutations often have unknown functional implications, hampering ge...
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Full title
Functional analysis of MSH2 unclassified variants found in suspected Lynch syndrome patients reveals pathogenicity due to attenuated mismatch repair
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TN_cdi_proquest_miscellaneous_1508679075
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1508679075
Other Identifiers
ISSN
0022-2593
E-ISSN
1468-6244
DOI
10.1136/jmedgenet-2013-101987
