A Database to Support the Interpretation of Human Mismatch Repair Gene Variants
| Autor: | Renee C. Niessen, Jianghua Ou, Jan J. Vonk, Helga Westers, Robert M.W. Hofstra, Rolf H. Sijmons |
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| Přispěvatelé: | Guided Treatment in Optimal Selected Cancer Patients (GUTS) |
| Jazyk: | angličtina |
| Rok vydání: | 2008 |
| Předmět: |
congenital
hereditary and neonatal diseases and abnormalities Base Pair Mismatch Genetic counseling HNPCC Biology Gene mutation computer.software_genre MLH1 Bioinformatics LYNCH-SYNDROME COLORECTAL-CANCER Germline mutation Databases Genetic Genetics PMS2 medicine Humans Genetic Predisposition to Disease Genetic Testing CLINICAL-SIGNIFICANCE Genetics (clinical) Database mutation database MLH3 Genetic Variation MSH6 medicine.disease BRCA1 Colorectal Neoplasms Hereditary Nonpolyposis Lynch syndrome digestive system diseases PREDISPOSITION MSH2 DNA-Binding Proteins MSH2 MISSENSE mismatch repair MutS Homolog 2 Protein hereditary nonpolyposis colorectal cancer computer functional assay |
| Zdroj: | Human Mutation, 29(11), 1337-1341. Wiley |
| ISSN: | 1059-7794 |
| Popis: | Germline mutations in the mismatch repair (MMR) genes MLH1, MSH2, MSH6, or PMS2 can cause Lynch syndrome. This syndrome, also known as hereditary nonpolyposis colorectal cancer (HNPCC), is an autosomal dominantly-inherited disorder predominantly characterized by colorectal and endometrial cancer. Truncating MMR gene mutations generally offer a clear handle for genetic counseling and allow for presymptomatic testing. In contrast, the clinical implications of most missense mutations and small in-frame deletions detected in patients suspected of having Lynch syndrome are unclear. We have constructed an online database, the Mismatch Repair Gene Unclassified Variants Database (www.mmruv.info), for information on the results of functional assays and other findings that may help in classifying these MMR gene variants. Ideally, such mutations should be clinically classified by a broad expert panel rather than by the individual database curators. In addition, the different MMR gene mutation databases could be interlinked or combined to increase user,friendliness and avoid unnecessary overlap between them. Both activities are presently being organized by the International Society for Gastrointestinal Hereditary Tumours (InSiGHT; www.insight-group.org). Hum Mutat 29(11), 1337-1341, 2008. (C) 2008 Wiley-Liss, Inc. |
| Databáze: | OpenAIRE |
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