Variants of uncertain clinical significance in hereditary breast and ovarian cancer genes: best practices in functional analysis for clinical annotation

Germline DNA tests to identify pathogenic variants in genes linked to hereditary breast and ovarian cancer susceptibility have become widely available. However, the clinical utility of genetic testing depends on reliable evidence-based classification of sequence variants. Determination of pathogenic...

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I publikationen:J Med Genet
Huvudupphovsmän: Monteiro, Alvaro N., Bouwman, Peter, Kousholt, Arne Nedergaard, Eccles, Diana M., Millot, Gael A., Masson, Jean-Yves, Schmidt, Marjanka K., Sharan, Shyam K., Scully, Ralph, Wiesmüller, Lisa, Couch, Fergus J., Vreeswijk, Maaike P.G.
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2020
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Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC7390672/
https://ncbi.nlm.nih.gov/pubmed/32152249
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2019-106368
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