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UMD-MLH1/MSH2/MSH6 数据库：法国林奇综合征家系中遗传变异的描述和分析。

UMD-MLH1/MSH2/MSH6 databases: description and analysis of genetic variations in French Lynch syndrome families.

机构信息

UMR_S910, INSERM, Marseille, France.

出版信息

Database (Oxford). 2013 May 31;2013:bat036. doi: 10.1093/database/bat036. Print 2013.

DOI:10.1093/database/bat036
PMID:23729658
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3668602/
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.

摘要

林奇综合征是一种常染色体显性遗传病，由生殖细胞系杂合突变引起，主要涉及 MSH2、MLH1 和 MSH6 基因，它们属于 DNA 错配修复（MMR）基因家族。法国网络统计了参与林奇综合征基因检测的 16 个授权实验室，开发了三个具有 UMD 软件的特定于基因座的数据库（www.umd.be/MLH1/、www.umd.be/MSH2/和 www.umd.be/MSH6/），其中目前包含总共 7047 个序列变异，包括通过完整突变筛选或靶向预测性测试确定的 707 个具有未知功能意义的独特变异（VUS）。突变携带者有发生早发性结直肠和子宫内膜腺癌的高风险。已经提出了共识临床指南，允许有效地检测可治愈的病变。基因检测的主要挑战是可靠地对寻求遗传咨询的患者中的基因组变异进行分类。结合软件的交互工具、相关的已发表数据以及法国 MMR 网络主要产生的原始信息，UMD-MLH1/MSH2/MSH6 数据库为根据 IARC 5 类系统分类的 707 个 VUS 提供了解释数据。这些公共数据库定期更新，以提高所有登记的 VUS 的分类，根据结构和功能方法探索它们在癌症易感性中的作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2cb0/3668602/b2ec78733888/bat036f3p.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2cb0/3668602/b6ac17b3f3d2/bat036f1p.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2cb0/3668602/8bb9bfac5793/bat036f2p.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2cb0/3668602/b2ec78733888/bat036f3p.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2cb0/3668602/b6ac17b3f3d2/bat036f1p.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2cb0/3668602/8bb9bfac5793/bat036f2p.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2cb0/3668602/b2ec78733888/bat036f3p.jpg

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本文引用的文献

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Hum Mutat. 2012 Dec;33(12):1617-25. doi: 10.1002/humu.22168. Epub 2012 Aug 13.
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Classification of mismatch repair gene missense variants with PON-MMR.PON-MMR 相关错配修复基因错义变异分类。
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Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome.林奇综合征中 MLH1、MSH2 和 MSH6 基因种系突变与癌症风险的相关性。
利用肿瘤体细胞突变对错配修复基因中的变异进行分类。
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Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools.外显子剪接突变比目前估计的更为普遍，并且可以通过使用计算机工具进行预测。
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