Characterization ofMSH2 andMLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer
| العنوان: | Characterization ofMSH2 andMLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer |
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| المؤلفون: | Alfonso Bellacosa, Giovanni Neri, Antonio Percesepe, Mirto Foletto, Piero Benatti, Francesca Leonardi, Maria Grazia Pomponi, Mauro Boiocchi, Eugenia Capozzi, Maurizio Genuardi, Maurizio Ponz de Leon, Maria Paravatou-Petsotas, Marcello Anti, Agostino Valenti, Marcello Covino, M G Tamassia, Alessandra Viel, Mara Fornasarig, Luca Roncucci |
| المصدر: | Genes, Chromosomes and Cancer. 18:8-18 |
| بيانات النشر: | Wiley, 1997. |
| سنة النشر: | 1997 |
| مصطلحات موضوعية: | Genetics, congenital, hereditary, and neonatal diseases and abnormalities, Cancer Research, Nonsense mutation, nutritional and metabolic diseases, Single-strand conformation polymorphism, Biology, MLH1, digestive system diseases, Germline, genomic DNA, MSH2, DNA mismatch repair, neoplasms, Gene |
| الوصف: | Mismatch repair genes MSH2 and MLH1 are considered to be the two major genes that are responsible for hereditary nonpolyposis colorectal cancer (HNPCC). Germline heterozygous inactivating mutations of MSH2 and MLH1 have been identified previously in a substantial fraction of individuals who are predisposed genetically to colorectal carcinoma (CRC) and other tumors of the HNPCC spectrum. With the aim of determining the relevance of these two genes in the Italian population, we submitted to mutational analysis a set of 17 HNPCC families, all of which fulfilled the “Amsterdam criteria.” A combination of different techniques, including reverse transcription-polymerase chain reaction (RT-PCR) of long fragments and single-strand conformation polymorphism (SSCP) on cDNA and genomic DNA, allowed the identification of ten molecular variants, seven of which are predicted to inactivate mismatch repair function. The mutated predisposing gene was MSH2 in two families and MLH1 in five other families. All of the mutations were characterized by DNA sequencing and appeared to involve different molecular mechanisms, such as short in-frame and out-of-frame deletions, splicing errors, and nonsense mutations. This study also demonstrates that, in the Italian population, a considerable fraction of HNPCC families (at least 41%) is linked to MSH2 and MLH1 mutations. Genes Chromosom. Cancer 18:8–18, 1997. © 1997 Wiley-Liss, Inc. |
| تدمد: | 1098-2264 1045-2257 |
| DOI: | 10.1002/(sici)1098-2264(199701)18:1<8::aid-gcc2>3.0.co;2-7 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_________::a4cb2f55e9da484d3d56d46c24582bb7 https://doi.org/10.1002/(sici)1098-2264(199701)18:1<8::aid-gcc2>3.0.co;2-7 |
| Rights: | CLOSED |
| رقم الانضمام: | edsair.doi...........a4cb2f55e9da484d3d56d46c24582bb7 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 10982264 10452257 |
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| DOI: | 10.1002/(sici)1098-2264(199701)18:1<8::aid-gcc2>3.0.co;2-7 |