期刊
NATURE GENETICS
卷 46, 期 2, 页码 107-+出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.2854
关键词
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资金
- Cancer Council of Victoria
- Cancer Council of Queensland PhD scholarship
- Queensland Institute of Medical Research PhD Top-Up award
- National Health and Medical Research Council Senior Research Fellow [1010859]
- Cancer Australia
- Tuscan Tumor Institute (ITT)
- Royal Melbourne Hospital Foundation
- National Cancer Institute/US National Institutes of Health (NCI/US NIH) [1R01CA164944]
- Ministerio de Ciencia e Innovacion [SAF 12-33636]
- Fundacion Cient fica de la Asociacion Espanola Contra el Cancer
- French National Cancer Institute
- Institut National du Cancer (INCa) French MMR Committee
- Association of International Cancer Research [12-1087]
- Medical Research Council UK [MR/K018647/1]
- NHS Wales National Institute for Health and Social Care (NIHSCR)
- Mayo Specialized Programs of Research Excellence (SPORE) grant [P50CA11620106]
- US NIH [R01 CA115783-02/CA/NCI]
- German Cancer Aid (Deutsche Krebshilfe)
- Wilhelm Sander Foundation
- Cancer Institute NSW
- Hong Kong Cancer Fund
- Direction Generale de l'Offre des Soins (INCa/DGOS)
- European Research Council [FP7-ERC-232635]
- Nordea-Fonden
- German Cancer Aid
- Canadian Cancer Society Research Institute [18223]
- MRC [MC_U127527198, MR/K018647/1, MC_PC_U127527198] Funding Source: UKRI
- Cancer Research UK [12076] Funding Source: researchfish
- Medical Research Council [MR/K018647/1, MC_PC_U127527198, MC_U127527198] Funding Source: researchfish
- Worldwide Cancer Research [12-1087] Funding Source: researchfish
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 Unpublished data submission was encouraged to assist in variant classification and was recognized through microattribution.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.
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