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Title: Whole-genome analysis of Nigerian patients with breast cancer reveals ethnic-driven somatic evolution and distinct genomic subtypes
Authors: Ansari-Pour, Naser
Zheng, Yonglan
Yoshimatsu, Toshio F.
Sanni, Ayodele
Ajani, Mustapha
Reynier, Jean-Baptiste
Tapinos, Avraam
Pitt, Jason J. 
Dentro, Stefan
Woodard, Anna
Rajagopal, Padma Sheila
Fitzgerald, Dominic
Gruber, Andreas J.
Odetunde, Abayomi
Popoola, Abiodun
Falusi, Adeyinka G.
Babalola, Chinedum Peace
Ogundiran, Temidayo
Ibrahim, Nasiru
Barretina, Jordi
Van Loo, Peter
Chen, Mengjie
White, Kevin P.
Ojengbede, Oladosu
Obafunwa, John
Huo, Dezheng
Wedge, David C.
Olopade, Olufunmilayo, I
Issue Date: 26-Nov-2021
Publisher: Nature Research
Citation: Ansari-Pour, Naser, Zheng, Yonglan, Yoshimatsu, Toshio F., Sanni, Ayodele, Ajani, Mustapha, Reynier, Jean-Baptiste, Tapinos, Avraam, Pitt, Jason J., Dentro, Stefan, Woodard, Anna, Rajagopal, Padma Sheila, Fitzgerald, Dominic, Gruber, Andreas J., Odetunde, Abayomi, Popoola, Abiodun, Falusi, Adeyinka G., Babalola, Chinedum Peace, Ogundiran, Temidayo, Ibrahim, Nasiru, Barretina, Jordi, Van Loo, Peter, Chen, Mengjie, White, Kevin P., Ojengbede, Oladosu, Obafunwa, John, Huo, Dezheng, Wedge, David C., Olopade, Olufunmilayo, I (2021-11-26). Whole-genome analysis of Nigerian patients with breast cancer reveals ethnic-driven somatic evolution and distinct genomic subtypes. Nature Communications 12 (1) : 6946. ScholarBank@NUS Repository.
Rights: Attribution 4.0 International
Abstract: Black women across the African diaspora experience more aggressive breast cancer with higher mortality rates than white women of European ancestry. Although inter-ethnic germline variation is known, differential somatic evolution has not been investigated in detail. Analysis of deep whole genomes of 97 breast cancers, with RNA-seq in a subset, from women in Nigeria in comparison with The Cancer Genome Atlas (n = 76) reveal a higher rate of genomic instability and increased intra-tumoral heterogeneity as well as a unique genomic subtype defined by early clonal GATA3 mutations with a 10.5-year younger age at diagnosis. We also find non-coding mutations in bona fide drivers (ZNF217 and SYPL1) and a previously unreported INDEL signature strongly associated with African ancestry proportion, underscoring the need to expand inclusion of diverse populations in biomedical research. Finally, we demonstrate that characterizing tumors for homologous recombination deficiency has significant clinical relevance in stratifying patients for potentially life-saving therapies. © 2021, The Author(s).
Source Title: Nature Communications
ISSN: 2041-1723
DOI: 10.1038/s41467-021-27079-w
Rights: Attribution 4.0 International
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