hMSH2 is the most commonly mutated MMR gene in a cohort of Greek HNPCC patients
| Autor: | Niki J. Agnantis, J K Triantafillidis, E. Razis, Angela Apessos, I Danielidis, P. Kosmidis, V. Georgoulias, George Fountzilas, Georgios Nasioulas, M Mihalatos, G Kallimanis |
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| Rok vydání: | 2005 |
| Předmět: |
Male
congenital hereditary and neonatal diseases and abnormalities Cancer Research hMSH2 Colorectal cancer HNPCC Biology hMLH1 medicine.disease_cause Exon Germline mutation Proto-Oncogene Proteins medicine Humans rearrangements Multiplex ligation-dependent probe amplification Gene Chromatography High Pressure Liquid Adaptor Proteins Signal Transducing Genetics Mutation Base Sequence Greece Reverse Transcriptase Polymerase Chain Reaction Nuclear Proteins nutritional and metabolic diseases Genetics and Genomics Gene rearrangement medicine.disease Colorectal Neoplasms Hereditary Nonpolyposis digestive system diseases Neoplasm Proteins Pedigree MLPA DNA-Binding Proteins MutS Homolog 2 Protein Oncology Female DNA mismatch repair Carrier Proteins MutL Protein Homolog 1 |
| Zdroj: | British Journal of Cancer |
| ISSN: | 1532-1827 0007-0920 |
| DOI: | 10.1038/sj.bjc.6602260 |
| Popis: | Germline mutations in genes encoding proteins involved in DNA mismatch repair are responsible for the autosomal dominantly inherited cancer predisposition syndrome hereditary nonpolyposis colorectal cancer (HNPCC). We describe here analysis of hMLH1 and hMSH2 in nine Greek families referred to our centre for HNPCC. A unique disease-causing mutation has been identified in seven out of nine (78%) families. The types of mutations identified are nonsense (five out of seven) (hMLH1: E557X, R226X; hMSH2: Q158X, R359X and R711X), a 2 bp deletion (hMSH2 1704_1705delAG) and a 2.2 kb Alu-mediated deletion encompassing exon 3 of the hMSH2 gene. The majority of mutations identified in this cohort are found in hMSH2 (77.7%). Furthermore, four of the mutations identified are novel. Finally, a number of novel benign variations were observed in both genes. This is the first report of HNPCC analysis in the Greek population, further underscoring the differences observed in the various geographic populations. |
| Databáze: | OpenAIRE |
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