The InSiGHT database: utilizing 100 years of insights into Lynch Syndrome

被引：95

作者：

Plazzer, J. P. ^{[1
]}

Sijmons, R. H. ^{[2
]}

Woods, M. O. ^{[3
]}

Peltomaki, P. ^{[4
]}

Thompson, B. ^{[5
,6
]}

Den Dunnen, J. T. ^{[7
]}

Macrae, F. ^{[1
]}

机构：

[1] Royal Melbourne Hosp, Dept Colorectal Med & Genet, Parkville, Vic 3050, Australia

[2] Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Groningen, Netherlands

[3] Mem Univ Newfoundland, Fac Med, Discipline Genet, St John, NF, Canada

[4] Univ Helsinki, Dept Med Genet, Haartman Inst, Helsinki, Finland

[5] Queensland Inst Med Res, Brisbane, Qld 4006, Australia

[6] Univ Queensland, Sch Med, Brisbane, Qld, Australia

[7] Leiden Univ, Med Ctr, Ctr Human & Clin Genet, Leiden, Netherlands

来源：

FAMILIAL CANCER | 2013年 / 12卷 / 02期

关键词：

Lynch Syndrome; InSiGHT database; Microattribution; Variant interpretation; Variant classification;

D O I：

10.1007/s10689-013-9616-0

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

This article provides a historical overview of the online database (www.insight-group.org/mutations) maintained by the International Society for Gastrointestinal Hereditary Tumours. The focus is on the mismatch repair genes which are mutated in Lynch Syndrome. APC, MUTYH and other genes are also an important part of the database, but are not covered here. Over time, as the understanding of the genetics of Lynch Syndrome increased, databases were created to centralise and share the variants which were being detected in ever greater numbers. These databases were eventually merged into the InSiGHT database, a comprehensive repository of gene variant and disease phenotype information, serving as a starting point for important endeavours including variant interpretation, research, diagnostics and enhanced global collection. Pivotal to its success has been the collaborative spirit in which it has been developed, its association with the Human Variome Project, the appointment of a full time curator and its governance stemming from the well established organizational structure of InSiGHT.

引用

页码：175 / 180

页数：6

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