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Document type:
journal article 
Author(s):
Steinke, V; Rahner, N; Morak, M; Keller, G; Schackert, HK; Görgens, H; Schmiegel, W; Royer-Pokora, B; Dietmaier, W; Kloor, M; Engel, C; Propping, P; Aretz, S; for The German HNPCC Consortium 
Title:
No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients. 
Abstract:
Hereditary non-polyposis colorectal cancer (HNPCC) is an autosomal dominant tumour predisposition syndrome caused by germline mutations in mismatch repair (MMR) genes. In contrast to MLH1 and MSH2, germline mutations in MSH6 are associated with a milder and particularly variable phenotype. Based on the reported interaction of the MMR complex and the base excision repair protein MUTYH, it was hypothesised that MUTYH mutations serve as phenotypical modifiers in HNPCC families. Recently, a signific...    »
 
Journal title abbreviation:
Eur J Hum Genet 
Year:
2008 
Journal volume:
16 
Journal issue:
Pages contribution:
587-592 
Language:
eng 
Print-ISSN:
1018-4813 
TUM Institution:
Institut für Allgemeine Pathologie und pathologische Anatomie