Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.

doi:10.1016/j.ajhg.2016.02.024

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Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.

American journal of human genetics - 5 May 2016

Maxwell Kara N, Hart Steven N, Vijai Joseph, Schrader Kasmintan A, Slavin Thomas P, Thomas Tinu, Wubbenhorst Bradley, Ravichandran Vignesh, Moore Raymond M, Hu Chunling, Guidugli Lucia, Wenz Brandon, Domchek Susan M, Robson Mark E, Szabo Csilla, Neuhausen Susan L, Weitzel Jeffrey N, Offit Kenneth, Couch Fergus J, Nathanson Katherine L

Abstract excerpt

Sequencing tests assaying panels of genes or whole exomes are widely available for cancer risk evaluation. However, methods for classification of variants resulting from this testing are not well studied. We evaluated the ability of a variant-classification methodology based on American College of Medical Genetics and Genomics (ACMG) guidelines to define the rate of mutations and variants of uncertain...

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PMID: 27153395
DOI: 10.1016/j.ajhg.2016.02.024
PMCID: PMC4863474

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BRCA1

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