학술논문
Reclassification of clinically-detected sequence variants: Framework for genetic clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group UK)
Document Type
Article
Author
Loong, Lucy; Garrett, Alice; Allen, Sophie; Choi, Subin; Durkie, Miranda; Callaway, Alison; Drummond, James; Burghel, George J.; Robinson, Rachel; Torr, Beth; Berry, Ian R.; Wallace, Andrew J.; Eccles, Diana M.; Ellard, Sian; Baple, Emma; Evans, D. Gareth; Woodward, Emma R.; Kulkarni, Anjana; Lalloo, Fiona; Tischkowitz, Marc; Lucassen, Anneke; Hanson, Helen; Turnbull, Clare
Source
Genetics in Medicine; September 2022, Vol. 24 Issue: 9 p1867-1877, 11p
Subject
Language
ISSN
10983600; 15300366
Abstract
Variant classifications may change over time, driven by emergence of fresh or contradictory evidence or evolution in weighing or combination of evidence items. For variant classifications above the actionability threshold, which is classification of likely pathogenic or pathogenic, clinical actions may be irreversible, such as risk-reducing surgery or prenatal interventions. Variant reclassification up or down across the actionability threshold can therefore have significant clinical consequences. Laboratory approaches to variant reinterpretation and reclassification vary widely.