MSH6 mutations are frequent in hereditary nonpolyposis colorectal cancer families with normal pMSH6 expression as detected by immunohistochemistry

Henrik Okkels, Karen Lindorff-Larsen, Ole Thorlasius-Ussing, Mogens Vyberg, Jan Lindebjerg, Lone Sunde, Inge Bernstein, Louise Klarskov, Susanne Holck, Henrik Bygum Krarup

18 Citationer (Scopus)

Abstract

Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominant condition accounting for 2% to 4% of all colorectal cancer cases worldwide. Families with germ line mutations in 1 of 6 mismatch repair genes are known as Lynch syndrome families. The largest number of mutations has been detected in the mismatch repair genes MLH1 and MSH2, but several mutations in MSH6 have also been demonstrated.
OriginalsprogEngelsk
TidsskriftApplied Immunohistochemistry & Molecular Morphology
Vol/bind20
Udgave nummer5
Sider (fra-til)470-477
Antal sider8
ISSN1541-2016
DOI
StatusUdgivet - 2012

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