Stanford University research team reanalyzed multi-gene sequencing results of 1483 cases of germline cancer risk, including clinical information and assorting by racial/ethnic groups. The pathogenic variant frequency across all racial groups did not show significant difference. However, the rates of pathogenic variants by gene in whites and non-whites were distinct. For example, 2/3 of the Asian HOBC patients had pathogenic and likely pathogenic variants in BRCA1/2 gene, but the percentage in whites was 1/3. White carriers of CHEK2 gene mutation were higher than non-whites, while APC gene mutation ratio was higher in non-whites than whites. In this cohort study, the probability of variants of uncertain significance (VUS) was also higher in non-whites. As more and more multiple-gene sequencing tests are conducted, the differences between racial/ethnic groups become more obvious. Race/ethnicity is an important factor for analyzing multiple-gene test results.
Publication: Caswell-Jin, Jennifer L., et al. "Racial/ethnic differences in multiple-gene sequencing results for hereditary cancer risk." Genetics in medicine: official journal of the American College of Medical Genetics (2017).