应用 5 级方案对 InSiGHT 局部数据库中 2360 个独特的错配修复基因突变进行标准化分类。
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.
机构信息
Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Australia.
School of Medicine, University of Queensland, Brisbane, Australia.
出版信息
Nat Genet. 2014 Feb;46(2):107-115. doi: 10.1038/ng.2854. Epub 2013 Dec 22.
The clinical classification of hereditary sequence variants identified in disease-related genes directly affects clinical management of patients and their relatives. The International Society for Gastrointestinal Hereditary Tumours (InSiGHT) undertook a collaborative effort to develop, test and apply a standardized classification scheme to constitutional variants in the Lynch syndrome-associated genes MLH1, MSH2, MSH6 and PMS2. Unpublished data submission was encouraged to assist in variant classification and was recognized through microattribution. The scheme was refined by multidisciplinary expert committee review of the clinical and functional data available for variants, applied to 2,360 sequence alterations, and disseminated online. Assessment using validated criteria altered classifications for 66% of 12,006 database entries. Clinical recommendations based on transparent evaluation are now possible for 1,370 variants that were not obviously protein truncating from nomenclature. This large-scale endeavor will facilitate the consistent management of families suspected to have Lynch syndrome and demonstrates the value of multidisciplinary collaboration in the curation and classification of variants in public locus-specific databases.
遗传性序列变异的临床分类,这些变异是在疾病相关基因中发现的,直接影响患者及其亲属的临床管理。国际胃肠道遗传肿瘤学会(InSiGHT)开展了一项合作努力,制定、测试并应用一种标准化分类方案,用于林奇综合征相关基因 MLH1、MSH2、MSH6 和 PMS2 中的结构变异。鼓励提交未发表的数据,以协助变异分类,并通过微归因加以确认。该方案经过多学科专家委员会对现有变异的临床和功能数据进行审查进行了完善,应用于 2,360 种序列改变,并在网上发布。使用经过验证的标准进行评估后,改变了 12,006 个数据库条目的 66%的分类。现在,根据透明评估,对于 1,370 个非明显蛋白截断的命名法变异,可提供临床建议。这项大规模的努力将有助于对疑似患有林奇综合征的家族进行一致的管理,并证明了多学科合作在公共位置特异性数据库中对变异的管理和分类的价值。
相似文献
引用本文的文献
Nat Rev Clin Oncol. 2025-7-10
Hum Mutat. 2023-5-22
本文引用的文献
J Biomed Inform. 2013-6-13
Nature. 2012-9-6
J Natl Cancer Inst. 2012-8-28