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

Rachel Martini; Yalei Chen; Brittany D. Jenkins; Isra A. Elhussin; Esther Cheng; Syed A. Hoda; Paula S. Ginter; Jeffrey Hanover; Rozina B. Zeidan; Joseph K. Oppong; Ernest K. Adjei; Aisha Jibril; Dhananjay Chitale; Jessica M. Bensenhaver; Baffour Awuah; Mahteme Bekele; Engida Abebe; Ishmael Kyei; Frances S. Aitpillah; Michael O. Adinku; Kwasi Ankomah; Ernest B. Osei-Bonsu; Saul David Nathansan; La Toya Jackson; Evelyn Jiagge; Lindsay F. Petersen; Erica Proctor; Petros Nikolinakos; Kofi K. Gyan; Clayton Yates; Rick Kittles; Lisa A. Newman; Melissa B. Davis

doi:10.1038/s41598-021-88613-w

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

Rachel Martini, Yalei Chen, Brittany D. Jenkins, Isra A. Elhussin, Esther Cheng, Syed A. Hoda, Paula S. Ginter, Jeffrey Hanover, Rozina B. Zeidan, Joseph K. Oppong, Ernest K. Adjei, Aisha Jibril, Dhananjay Chitale, Jessica M. Bensenhaver, Baffour Awuah, Mahteme Bekele, Engida Abebe, Ishmael Kyei, Frances S. Aitpillah, Michael O. AdinkuKwasi Ankomah, Ernest B. Osei-Bonsu, Saul David Nathansan, La Toya Jackson, Evelyn Jiagge, Lindsay F. Petersen, Erica Proctor, Petros Nikolinakos, Kofi K. Gyan, Clayton Yates, Rick Kittles, Lisa A. Newman, Melissa B. Davis

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Abstract

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.

Original language	English (US)
Article number	9247
Journal	Scientific reports
Volume	11
Issue number	1
DOIs	https://doi.org/10.1038/s41598-021-88613-w
State	Published - Dec 2021

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Martini, R., Chen, Y., Jenkins, B. D., Elhussin, I. A., Cheng, E., Hoda, S. A., Ginter, P. S., Hanover, J., Zeidan, R. B., Oppong, J. K., Adjei, E. K., Jibril, A., Chitale, D., Bensenhaver, J. M., Awuah, B., Bekele, M., Abebe, E., Kyei, I., Aitpillah, F. S., ... Davis, M. B. (2021). Investigation of triple-negative breast cancer risk alleles in an International African-enriched cohort. Scientific reports, 11(1), Article 9247. https://doi.org/10.1038/s41598-021-88613-w

Martini, 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, SD, Jackson, LT, Jiagge, E, Petersen, LF, Proctor, E, Nikolinakos, P, Gyan, KK, Yates, C, Kittles, R, Newman, LA & Davis, MB 2021, 'Investigation of triple-negative breast cancer risk alleles in an International African-enriched cohort', Scientific reports, vol. 11, no. 1, 9247. https://doi.org/10.1038/s41598-021-88613-w

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title = "Investigation of triple-negative breast cancer risk alleles in an International African-enriched cohort",

abstract = "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.",

author = "Rachel Martini and Yalei Chen and Jenkins, {Brittany D.} and Elhussin, {Isra A.} and Esther Cheng and Hoda, {Syed A.} and Ginter, {Paula S.} and Jeffrey Hanover and Zeidan, {Rozina B.} and Oppong, {Joseph K.} and Adjei, {Ernest K.} and Aisha Jibril and Dhananjay Chitale and Bensenhaver, {Jessica M.} and Baffour Awuah and Mahteme Bekele and Engida Abebe and Ishmael Kyei and Aitpillah, {Frances S.} and Adinku, {Michael O.} and Kwasi Ankomah and Osei-Bonsu, {Ernest B.} and Nathansan, {Saul David} and Jackson, {La Toya} and Evelyn Jiagge and Petersen, {Lindsay F.} and Erica Proctor and Petros Nikolinakos and Gyan, {Kofi K.} and Clayton Yates and Rick Kittles and Newman, {Lisa A.} and Davis, {Melissa B.}",

note = "Publisher Copyright: {\textcopyright} 2021, The Author(s).",

year = "2021",

month = dec,

doi = "10.1038/s41598-021-88613-w",

language = "English (US)",

volume = "11",

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T1 - Investigation of triple-negative breast cancer risk alleles in an International African-enriched cohort

AU - Martini, Rachel

AU - Chen, Yalei

AU - Jenkins, Brittany D.

AU - Elhussin, Isra A.

AU - Cheng, Esther

AU - Hoda, Syed A.

AU - Ginter, Paula S.

AU - Hanover, Jeffrey

AU - Zeidan, Rozina B.

AU - Oppong, Joseph K.

AU - Adjei, Ernest K.

AU - Jibril, Aisha

AU - Chitale, Dhananjay

AU - Bensenhaver, Jessica M.

AU - Awuah, Baffour

AU - Bekele, Mahteme

AU - Abebe, Engida

AU - Kyei, Ishmael

AU - Aitpillah, Frances S.

AU - Adinku, Michael O.

AU - Ankomah, Kwasi

AU - Osei-Bonsu, Ernest B.

AU - Nathansan, Saul David

AU - Jackson, La Toya

AU - Jiagge, Evelyn

AU - Petersen, Lindsay F.

AU - Proctor, Erica

AU - Nikolinakos, Petros

AU - Gyan, Kofi K.

AU - Yates, Clayton

AU - Kittles, Rick

AU - Newman, Lisa A.

AU - Davis, Melissa B.

PY - 2021/12

Y1 - 2021/12

N2 - 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.

AB - 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.

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DO - 10.1038/s41598-021-88613-w

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SN - 2045-2322

VL - 11

JO - Scientific reports

JF - Scientific reports

IS - 1

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ER -

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

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