TY - JOUR
T1 - Somatic mutations of triple-negative breast cancer
T2 - a comparison between Black and White women
AU - Omilian, Angela R.
AU - Wei, Lei
AU - Hong, Chi Chen
AU - Bandera, Elisa V.
AU - Liu, Song
AU - Khoury, Thaer
AU - Ambrosone, Christine B.
AU - Yao, Song
N1 - Funding Information:
This work was supported by the Breast Cancer Research Foundation and the National Cancer Institute (R01 CA100598, R01 CA133264, P01 CA151135, and used Roswell Park Comprehensive Cancer Center’s Pathology Network Shared Resource, Genomics Shared Resource, and Data Bank and BioRepository (P30 CA016056).
Publisher Copyright:
© 2020, Springer Science+Business Media, LLC, part of Springer Nature.
PY - 2020/7/1
Y1 - 2020/7/1
N2 - Purpose: Understanding the contribution of tumor genome biology to racial disparities of triple-negative breast cancer (TNBC) is important for narrowing the cancer mortality gap between Black and White women. Methods: We evaluated tumor somatic mutations using targeted sequencing of a customized panel of 151 genes and 15 copy number variations (CNVs) within a population of 133 TNBC patients, including 71 Black and 62 White women. Results: The overall mutational burden between Black and White women with TNBC was not significantly different, with a median of 5 somatic changes per patient (point mutations and CNVs combined) for the customized panel (range 1–31 for Blacks vs. 1–26 for Whites; p = 0.76). Of the 151 genes examined, none were mutated at a significantly higher frequency in Black than in White cases, whereas two genes were mutated at a higher frequency in White cases—PIK3CA and NCOR1. No significant difference in the frequency of CNVs was observed between Black and White women with TNBC in our study population. Conclusion: Of gene mutations and CNVs in TNBC tumors from Black and White women, only PIK3CA and NCOR1 had significantly different, although slight, frequencies by race. These results indicate that overall differences observed in the mutation spectra between Black and White women with breast cancer are likely due to the differential distributions of breast cancer subtypes by race.
AB - Purpose: Understanding the contribution of tumor genome biology to racial disparities of triple-negative breast cancer (TNBC) is important for narrowing the cancer mortality gap between Black and White women. Methods: We evaluated tumor somatic mutations using targeted sequencing of a customized panel of 151 genes and 15 copy number variations (CNVs) within a population of 133 TNBC patients, including 71 Black and 62 White women. Results: The overall mutational burden between Black and White women with TNBC was not significantly different, with a median of 5 somatic changes per patient (point mutations and CNVs combined) for the customized panel (range 1–31 for Blacks vs. 1–26 for Whites; p = 0.76). Of the 151 genes examined, none were mutated at a significantly higher frequency in Black than in White cases, whereas two genes were mutated at a higher frequency in White cases—PIK3CA and NCOR1. No significant difference in the frequency of CNVs was observed between Black and White women with TNBC in our study population. Conclusion: Of gene mutations and CNVs in TNBC tumors from Black and White women, only PIK3CA and NCOR1 had significantly different, although slight, frequencies by race. These results indicate that overall differences observed in the mutation spectra between Black and White women with breast cancer are likely due to the differential distributions of breast cancer subtypes by race.
KW - African ancestry
KW - Copy number variation
KW - Racial disparities
KW - Somatic mutation
KW - Triple-negative breast cancer
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U2 - 10.1007/s10549-020-05693-4
DO - 10.1007/s10549-020-05693-4
M3 - Article
C2 - 32441016
AN - SCOPUS:85085001103
SN - 0167-6806
VL - 182
SP - 503
EP - 509
JO - Breast Cancer Research and Treatment
JF - Breast Cancer Research and Treatment
IS - 2
ER -