Racial and ethnic differences in multigene hereditary cancer panel test results for women with breast cancer
Menée aux Etats-Unis à partir de données portant sur 77 900 patientes atteintes d'une cancer du sein et porteuses de variants pathogènes constitutionnels, cette étude analyse les disparités ethniques dans les résultats de tests multigéniques
To evaluate the racial/ethnic differences in prevalence of germline pathogenic variants (PVs) and the effect of race/ethnicity on breast cancer (BC) risk among carriers, results of multigene testing of 77,900 women with BC (Non-Hispanic White [NHW] = 57,003; Ashkenazi-Jewish = 4,798; Black = 6,722; Hispanic = 5,194; and Asian = 4,183) were analyzed and the frequency of PVs in each gene were compared between BC cases and race/ethnicity-matched gnomAD reference controls. Compared to NHWs, BRCA1 PVs were enriched in Ashkenazi-Jews and Hispanics while CHEK2 PVs were statistically significantly lower in Blacks, Hispanics, and Asians (all two-sided P< 0.05). In case-control studies BARD1 PVs were associated with high risks (Odds Ratio>4.00) of BC in Blacks, Hispanics and Asians; ATM PVs were associated with increased risk of BC among all races/ethnicities except Asians; whereas CHEK2 and BRIP1 PVs were associated with increased risk of BC among NHWs and Hispanics only. These findings suggest a need for personalized management of BC risk in PV carriers based on race/ethnicity.