Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations

Accurate classification of variants in cancer susceptibility genes (CSGs) is key for correct estimation of cancer risk and management of patients. Consistency in the weighting assigned to individual elements of evidence has been much improved by the American College of Medical Genetics (ACMG) 2015 f...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:J Med Genet
Main Authors: Garrett, Alice, Durkie, Miranda, Callaway, Alison, Burghel, George J, Robinson, Rachel, Drummond, James, Torr, Bethany, Cubuk, Cankut, Berry, Ian R, Wallace, Andrew J, Ellard, Sian, Eccles, Diana M, Tischkowitz, Marc, Hanson, Helen, Turnbull, Clare
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2021
Assuntos:
Position Statement
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8086256/
https://ncbi.nlm.nih.gov/pubmed/33208383
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2020-107248
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados