Title |
UMD-MLH1/MSH2/MSH6 databases: description and analysis of genetic variations in French Lynch syndrome families
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Published in |
Database: The Journal of Biological Databases & Curation, May 2013
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DOI | 10.1093/database/bat036 |
Pubmed ID | |
Authors |
Philippe Grandval, Aurélie J. Fabre, Pascaline Gaildrat, Stéphanie Baert-Desurmont, Marie-Pierre Buisine, Anthony Ferrari, Qing Wang, Christophe Béroud, Sylviane Olschwang |
Abstract |
Lynch syndrome is an autosomal dominant disease caused by germ line heterozygous mutations mainly involving the MSH2, MLH1 and MSH6 genes that belong to the DNA MisMatch Repair (MMR) genes family. The French network counting the 16 licensed laboratories involved in Lynch syndrome genetic testing developed three locus-specific databases with the UMD software (www.umd.be/MLH1/, www.umd.be/MSH2/ and www.umd.be/MSH6/) that presently contain a total of 7047 sequence variations including 707 distinct variations of a priori unknown functional significance (VUS) that were identified through complete mutation screening or targeted predictive testing. Mutation carriers are at high risk for developing early-onset colorectal and endometrial adenocarcinomas. Consensus clinical guidelines have been proposed, allowing the efficient detection of curable lesions. The major challenge of genetic testing is to reliably classify the genomic variations in those patients who seek genetic counseling. Combining the interactive tools of the software, the relevant published data and mainly original information produced by the French MisMatch Repair network, the UMD-MLH1/MSH2/MSH6 databases provide interpretation data for the 707 VUS that were classified according to the IARC 5-Class system. These public databases are regularly updated to improve the classification of all registered VUS, exploring their role in cancer pre-disposition based on structural and functional approaches. |
X Demographics
Geographical breakdown
Country | Count | As % |
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Unknown | 1 | 100% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Spain | 1 | 2% |
Unknown | 40 | 98% |
Demographic breakdown
Readers by professional status | Count | As % |
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Researcher | 14 | 34% |
Student > Ph. D. Student | 4 | 10% |
Student > Master | 3 | 7% |
Student > Doctoral Student | 2 | 5% |
Professor | 2 | 5% |
Other | 8 | 20% |
Unknown | 8 | 20% |
Readers by discipline | Count | As % |
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Biochemistry, Genetics and Molecular Biology | 12 | 29% |
Medicine and Dentistry | 9 | 22% |
Agricultural and Biological Sciences | 6 | 15% |
Computer Science | 2 | 5% |
Social Sciences | 2 | 5% |
Other | 3 | 7% |
Unknown | 7 | 17% |