Journal
GENETICS IN MEDICINE
Volume 20, Issue 2, Pages 234-239Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/gim.2017.96
Keywords
hereditary cancer panel; multiple-gene panel testing; next-generation sequencing; race/ethnicity; variants of unknown significance
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Funding
- Suzanne Pride Bryan Fund for Breast Cancer Research
- Jan Weimer Junior Faculty Chair in Breast Oncology
- Breast Cancer Research Foundation
- BRCA Foundation
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Purpose: We examined racial/ethnic differences in the usage and results of germ-line multiple-gene sequencing (MGS) panels to evaluate hereditary cancer risk. Methods: We collected genetic testing results and clinical information from 1,483 patients who underwent MGS at Stanford University between 1 January 2013 and 31 December 2015. Results: Asians and Hispanics presented for MGS at younger ages than whites (48 and 47 vs. 55; P = 5E-16 and 5E-14). Across all panels, the rate of pathogenic variants (15%) did not differ significantly between racial groups. Rates by gene did differ: in particular, a higher percentage of whites than nonwhites carried pathogenic CHEK2 variants (3.8% vs. 1.0%; P = 0.002). The rate of a variant of uncertain significance (VUS) result was higher in nonwhites than whites (36% vs. 27%; P = 2E-4). The probability of a VUS increased with increasing number of genes tested; this effect was more pronounced for nonwhites than for whites (1.1% absolute difference in VUS rates testing BRCA1/2 vs. 8% testing 13 genes vs. 14% testing 28 genes), worsening the disparity. Conclusion: In this diverse cohort undergoing MGS testing, pathogenic variant rates were similar between racial/ethnic groups. By contrast, VUS results were more frequent among nonwhites, with potential significance for the impact of MGS testing by race/ethnicity.
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