Investigation of triple-negative breast cancer risk alleles in an International African-enriched cohort.

TitleInvestigation of triple-negative breast cancer risk alleles in an International African-enriched cohort.
Publication TypeJournal Article
Year of Publication2021
AuthorsMartini R, Chen Y, Jenkins BD, Elhussin IA, Cheng E, Hoda SA, Ginter PS, Hanover J, Zeidan RB, Oppong JK, Adjei EK, Jibril A, Chitale D, Bensenhaver JM, Awuah B, Bekele M, Abebe E, Kyei I, Aitpillah FS, Adinku MO, Ankomah K, Osei-Bonsu EB, Nathansan SDavid, Jackson LT, Jiagge E, Petersen LF, Proctor E, Nikolinakos P, Gyan KK, Yates C, Kittles R, Newman LA, Davis MB
JournalSci Rep
Date Published2021 04 29

Large-scale efforts to identify breast cancer (BC) risk alleles have historically taken place among women of European ancestry. Recently, there are new efforts to verify if these alleles increase risk in African American (AA) women as well. We investigated the effect of previously reported AA breast cancer and triple-negative breast cancer (TNBC) risk alleles in our African-enriched International Center for the Study of Breast Cancer Subtypes (ICSBCS) cohort. Using case-control, case-series and race-nested approaches, we report that the Duffy-null allele (rs2814778) is associated with TNBC risk (OR = 3.814, p = 0.001), specifically among AA individuals, after adjusting for self-indicated race and west African ancestry (OR = 3.368, p = 0.007). We have also validated the protective effect of the minor allele of the ANKLE1 missense variant rs2363956 among AA for TNBC (OR = 0.420, p = 0.005). Our results suggest that an ancestry-specific Duffy-null allele and differential prevalence of a polymorphic gene variant of ANKLE1 may play a role in TNBC breast cancer outcomes. These findings present opportunities for therapeutic potential and future studies to address race-specific differences in TNBC risk and disease outcome.

Alternate JournalSci Rep
PubMed ID33927264
PubMed Central IDPMC8085076
Grant ListU54-MD007585-26 / MD / NIMHD NIH HHS / United States
U54 CA118623 / CA / NCI NIH HHS / United States
5R21CA210237-03 / CA / NCI NIH HHS / United States
Related Faculty: 
Syed Hoda, M.D. Esther Cheng, D.O.

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