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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Bibliografiska uppgifter
I publikationen:J Med Genet
Huvudupphovsmän: 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
Materialtyp: Artigo
Språk:Inglês
Publicerad: BMJ Publishing Group 2021
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Länkar: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
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