TY - JOUR
T1 - Racial and Ethnic Differences in Multigene Hereditary Cancer Panel Test Results for Women with Breast Cancer
AU - Yadav, Siddhartha
AU - Laduca, Holly
AU - Polley, Eric C.
AU - Hu, Chunling
AU - Niguidula, Nancy
AU - Shimelis, Hermela
AU - Lilyquist, Jenna
AU - Na, Jie
AU - Lee, Kun Y.
AU - Gutierrez, Stephanie
AU - Yussuf, Amal
AU - Hart, Steven N.
AU - Davis, Brigette Tippin
AU - Chao, Elizabeth C.
AU - Pesaran, Tina
AU - Goldgar, David E.
AU - Dolinsky, Jill S.
AU - Couch, Fergus J.
N1 - Publisher Copyright:
© 2020 The Author(s). Published by Oxford University Press.
PY - 2021/10/1
Y1 - 2021/10/1
N2 - To evaluate the racial and ethnic differences in prevalence of germline pathogenic variants (PVs) and the effect of race and 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 = 4798; Black = 6722; Hispanic = 5194; and Asian = 4183) were analyzed, and the frequency of PVs in each gene were compared between BC patients (cases) and race- A nd ethnicity-matched gnomAD reference controls. Compared with NHWs, BRCA1 PVs were enriched in Ashkenazi-Jews and Hispanics, whereas CHEK2 PVs were statistically significantly lower in Blacks, Hispanics, and Asians (all 2-sided P <. 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 and 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 and ethnicity.
AB - To evaluate the racial and ethnic differences in prevalence of germline pathogenic variants (PVs) and the effect of race and 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 = 4798; Black = 6722; Hispanic = 5194; and Asian = 4183) were analyzed, and the frequency of PVs in each gene were compared between BC patients (cases) and race- A nd ethnicity-matched gnomAD reference controls. Compared with NHWs, BRCA1 PVs were enriched in Ashkenazi-Jews and Hispanics, whereas CHEK2 PVs were statistically significantly lower in Blacks, Hispanics, and Asians (all 2-sided P <. 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 and 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 and ethnicity.
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U2 - 10.1093/jnci/djaa167
DO - 10.1093/jnci/djaa167
M3 - Article
C2 - 33146377
AN - SCOPUS:85103546309
SN - 0027-8874
VL - 113
SP - 1429
EP - 1433
JO - Journal of the National Cancer Institute
JF - Journal of the National Cancer Institute
IS - 10
ER -