Mutations of the 'minor' mismatch repair geneMSH6in typical and atypical hereditary nonpolyposis colorectal cancer
โ Scribed by Emanuela Lucci-Cordisco; Valentina Rovella; Stefania Carrara; Antonio Percesepe; Monica Pedroni; Alfonso Bellacosa; Oana Caluseriu; Mara Forasarig; Marcello Anti; Giovanni Neri; Maurizio Ponz de Leon; Alessandra Viel; Maurizio Genuardi
- Book ID
- 110325063
- Publisher
- Springer Netherlands
- Year
- 2001
- Tongue
- English
- Weight
- 96 KB
- Volume
- 1
- Category
- Article
- ISSN
- 1389-9600
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Hereditary nonpolyposis colorectal cancer (HNPCC) is a common autosomal dominant disease caused by germline mutations in DNA mismatch repair genes. The mutational spectrum in these genes appears to be diverse, in both the distribution and the nature of the mutations. However, most described mutation
## Abstract Germline mutations in DNA mismatch repair genes underlie one of the most common hereditary cancer predisposition syndromes known in humans, hereditary nonpolyposis colorectal cancer (HNPCC). Defects of the DNA mismatch repair system are also prevalent in sporadic colorectal cancers. The
Fourteen Italian families affected with hereditary nonpolyposis colorectal cancer (HNPCC) were screened for germline mutations at three DNA mismatch repair (MMR) genes, MSH2, MLH1, and GTBP, by using a combination of different methods that included an in vitro synthesized protein assay, single-stran
Worldwide, the DNA mismatch repair genes MSH2 and MLH1 account for a major share and almost equal proportions of hereditary nonpolyposis colorectal cancer (HNPCC). Furthermore, the predisposing mutation usually varies from kindred to kindred. In this study, we screened 29 verified or putative HNPCC
## Abstract A systematic search by Southern blot analysis in a cohort of 439 hereditary nonpolyposis colorectal cancer (HNPCC) families for genomic rearrangements in the main mismatch repair (MMR) genes, namely, __MSH2__, __MLH1__, __MSH6__, and __PMS2__, identified 48 genomic rearrangements causat