A636P testing in Ashkenazi Jews
| Autor: | Palmer Crystal, Offit Kenneth, G. guillem Jose, G. moore Harvey, Glogowski Emily, Nafa Khedoudja, Rob Finch, A. Ellis Nathan, J. Markowitz Arnold |
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| Rok vydání: | 2004 |
| Předmět: |
Adult
Male congenital hereditary and neonatal diseases and abnormalities Cancer Research Colorectal cancer Population MLH1 Sensitivity and Specificity Age Distribution Genetics Humans Medicine Genetic Predisposition to Disease Genetic Testing Sex Distribution education Alleles Genetics (clinical) Adaptor Proteins Signal Transducing Aged education.field_of_study Polymorphism Genetic business.industry Incidence Nuclear Proteins nutritional and metabolic diseases Middle Aged medicine.disease Colorectal Neoplasms Hereditary Nonpolyposis Survival Analysis digestive system diseases Human genetics Ashkenazi jews Neoplasm Proteins Oncology MSH2 Jews Mutation Mutation (genetic algorithm) Female DNA mismatch repair Carrier Proteins MutL Protein Homolog 1 business |
| Zdroj: | Familial Cancer. 3:223-227 |
| ISSN: | 1573-7292 1389-9600 |
| DOI: | 10.1007/s10689-004-0899-z |
| Popis: | Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominantly inherited colorectal cancer syndrome attributable to mutations in one of several DNA mismatch repair genes, most commonly MLH1 and MSH2 . In certain populations, founder mutations account for a substantial portion of HNPCC. In this report we summarize the literature and our personal experience testing for a specific founder mutation in the Ashkenazi Jewish population, MSH2*1906GC , also known as A636P. Although rare in the general population, the A636P mutation is detected in up to 7% of Ashkenazi Jewish patients with early age-of-onset colorectal cancer, and may account for up to one third of HNPCC in the Ashkenazi Jewish population. In addition, we summarize our initial experience with a prospective A636P testing protocol aimed at Ashkenazi Jewish patients at high or intermediate risk for harboring the A636P mutation. |
| Databáze: | OpenAIRE |
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