期刊
CANCER GENETICS
卷 209, 期 4, 页码 130-137出版社
ELSEVIER SCIENCE INC
DOI: 10.1016/j.cancergen.2015.12.013
关键词
Hereditary cancer; cancer risk assessment; multi-gene panels; variants of uncertain significance; ethnic minorities
资金
- National Cancer Institute at the National Institutes of Health
- USC Norris Cancer Center Core Grant [P30CA014089]
- American Cancer Society [RSGT 1020301]
- Avon Foundation [052011057]
- Anton B. Burg Foundation
- Lynne Cohen Foundation
This study aims to assess multi-gene panel testing in an ethnically diverse clinical cancer genetics practice. We conducted a retrospective study of individuals with a personal or family history of cancer undergoing clinically indicated multi-gene panel tests of 6-110 genes, from six commercial laboratories. The 475 patients in the study included 228 Hispanics (47.6%), 166 non Hispanic Whites (35.4%), 55 Asians (11.6%), 19 Blacks (4.0%), and seven others (1.5%). Panel testing found that 15.6% (74/475) of patients carried deleterious mutations for a total of 79 mutations identified. This included 7.4% (35/475) of patients who had a mutation identified that would not have been tested with a gene-by-gene approach. The identification of a panel added mutation impacted clinical management for most of cases (69%, 24/35), and genetic testing was recommended for the first degree relatives of nearly all of them (91%, 32/35). Variants of uncertain significance (VUSs) were identified in a higher proportion of tests performed in ethnic minorities. Multi-gene panel testing increases the yield of mutations detected and adds to the capability of providing individualized cancer risk assessment. VUSs represent an interpretive challenge due to less data available outside of White, non-Hispanic populations. Further studies are necessary to expand understanding of the implementation and utilization of panels across broad clinical settings and patient populations.
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