Steinke, Verena and Rahner, Nils and Morak, Monika and Keller, Gisela and Schackert, Hans K. and Goergens, Heike and Schmiegel, Wolff and Royer-Pokora, Brigitte and Dietmaier, Wolfgang and Kloor, Matthias and Engel, Christoph and Propping, Peter and Aretz, Stefan (2008) No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients. EUROPEAN JOURNAL OF HUMAN GENETICS, 16 (5). pp. 587-592. ISSN 1018-4813,
Full text not available from this repository. (Request a copy)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 significantly higher frequency of heterozygosity for MUTYH mutations among MSH6 mutation carriers was reported. We examined 64 MSH6 mutation carriers ( 42 truncating mutations, 19 missense mutations and 3 silent mutations) of the German HNPCC Consortium for MUTYH mutations by sequencing the whole coding region of the gene. Monoallelic MUTYH mutations were identified in 2 of the 64 patients ( 3.1%), no biallelic MUTYH mutation carrier was found. The frequency of MUTYH mutations was not significantly higher than that in healthy controls, neither in the whole patient group ( P = 0.30) nor in different subgroups regarding mutation type. Our results do not support the association between MSH6 mutations and heterozygosity for MUTYH mutations.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | NONPOLYPOSIS COLORECTAL-CANCER; BASE-EXCISION-REPAIR; AGE-OF-ONSET; MISMATCH REPAIR; LYNCH-SYNDROME; MICROSATELLITE INSTABILITY; BETHESDA GUIDELINES; MYH GENE; HEREDITARY; POLYPOSIS; HNPCC; MSH6; MUTYH; MMR; BER; modifier genes |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Pathologie |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 03 Nov 2020 09:01 |
| Last Modified: | 03 Nov 2020 09:01 |
| URI: | https://pred.uni-regensburg.de/id/eprint/30934 |
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