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...

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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2021
Materias:
Position Statement
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8086256/
https://www.ncbi.nlm.nih.gov/pubmed/33208383
http://dx.doi.org/10.1136/jmedgenet-2020-107248

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8086256/
https://www.ncbi.nlm.nih.gov/pubmed/33208383
http://dx.doi.org/10.1136/jmedgenet-2020-107248

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