Integrating somatic variant data and biomarkers for germline variant classification in cancer predisposition genes

In its landmark paper about Standards and Guidelines for the Interpretation of Sequence Variants, the American College of Medical Genetics and Genomics (ACMG), and Association for Molecular Pathology (AMP) did not address how to use tumor data when assessing the pathogenicity of germline variants. T...

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Veröffentlicht in:	Human mutation 2018-11, Vol.39 (11), p.1542-1552
Hauptverfasser:	Walsh, Michael F., Ritter, Deborah I., Kesserwan, Chimene, Sonkin, Dmitriy, Chakravarty, Debyani, Chao, Elizabeth, Ghosh, Rajarshi, Kemel, Yelena, Wu, Gang, Lee, Kristy, Kulkarni, Shashikant, Hedges, Dale, Mandelker, Diana, Ceyhan‐Birsoy, Ozge, Luo, Minjie, Drazer, Michael, Zhang, Liying, Offit, Kenneth, Plon, Sharon E.
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles Cancer Computational Biology Genetic Predisposition to Disease - genetics Genetic Testing - methods Genetic Variation - genetics Genome, Human - genetics Genomics Germ-Line Mutation - genetics germline Heterozygosity hotspot Humans Loss of heterozygosity Mutation - genetics Pathogenicity PM1 PP4 Ribonucleic acid RNA signature somatic Splicing variant interpretation
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