Article
Mutation and association analyses of the candidate genes ESR1, ESR2, MAX, PCNA, and KAT2A in patients with unexplained MSH2-deficient tumors.
Familial cancer - 1 Mar 2012
Rahner Nils, Brockschmidt Felix F, Steinke Verena, Kahl Philip, Becker Tim, Vasen Hans F A, Wijnen Juul T, Tops Carli J M, Holinski-Feder Elke, Ligtenberg Marjolijn J L, Spruijt Liesbeth, Görgens Heike, Stemmler Susanne, Kloor Matthias, Dietmaier Wolfgang, Schumacher Johannes, Nöthen Markus M, Propping Peter
Abstract excerpt
Lynch syndrome (Hereditary non-polyposis colorectal cancer/HNPCC) is a cancer susceptibility syndrome which is caused by germline mutations in DNA mismatch repair (MMR) genes, in particular MLH1 and MSH2. A pathogenic germline mutation in the respective MMR gene is suggested by the finding of a loss of a mismatch repair protein in tumor tissue on immunohistochemical staining combined with an early age of onset...
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