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Dokumenttyp:
journal article 
Autor(en):
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 
Titel:
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...    »
 
Zeitschriftentitel:
Eur J Hum Genet 
Jahr:
2008 
Band / Volume:
16 
Heft / Issue:
Seitenangaben Beitrag:
587-592 
Sprache:
eng 
Print-ISSN:
1018-4813 
TUM Einrichtung:
r Allgemeine Pathologie und pathologische Anatomie