Profile of the somatic mutational landscape in breast tumors from Hispanic/Latina women

Ding, Y. C.; Song, H.; Adamson, A.; Schmolze, D.; Hu, D.; Huntsman, S.; Steele, L.; Patrick, C.; Hernandez, N.; Adams, C. D.; Fejerman, L.; Gardner, K. L.; Napoles, A. M.; Perez-Stable, E. J.; Weitzel, J. N.; Bengtsson, H.; Huang, F. W.; Neuhausen, S. L.; Ziv, E.

doi:10.1101/2022.08.01.502349

bioRxiv · 10.1101/2022.08.01.502349

Profile of the somatic mutational landscape in breast tumors from Hispanic/Latina women

Ding, Y. C.·Song, H.·Adamson, A.·Schmolze, D.·Hu, D.·Huntsman, S.·Steele, L.·Patrick, C.·Hernandez, N.·Adams, C. D.·Fejerman, L.·Gardner, K. L.·Napoles, A. M.·Perez-Stable, E. J.·Weitzel, J. N.·Bengtsson, H.·Huang, F. W.·Neuhausen, S. L.·Ziv, E.

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Abstract

Breast cancer causes the most cancer deaths among Hispanic/Latinas (H/L). However, limited tumor-sequencing data from H/L are available to guide treatment. To address this gap, we performed whole-exome sequencing of DNA from 140 HL germline and 146 matched breast tumors and RNA-seq for the tumors. We generated somatic-mutation profiles, identified copy-number alterations (CNAs), and compared results to non-Hispanic White (White) women in The Cancer Genome Atlas. Similar to Whites, PIK3CA and TP53 were the most commonly mutated genes in breast tumors from H/L. We found 4 common COSMIC mutation signatures (1, 2, 3, 13) and signature 16 not previously reported in other breast-cancer datasets. We observed recurrent amplifications in breast-cancer drivers including MYC, FGFR1, CCND1, and ERBB2, and a recurrent amplification on 17q11.2 associated with high KIAA0100 gene expression, implicated in breast-cancer aggressiveness. Expanded research is required to determine how these characteristics of H/L tumors impact treatment response and survival.

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Ding, Y. C., Song, H., Adamson, A., Schmolze, D., Hu, D., Huntsman, S., Steele, L., Patrick, C., Hernandez, N., Adams, C. D., Fejerman, L., Gardner, K. L., Napoles, A. M., Perez-Stable, E. J., Weitzel, J. N., Bengtsson, H., Huang, F. W., Neuhausen, S. L., Ziv, E.. 2022-08-03. Profile of the somatic mutational landscape in breast tumors from Hispanic/Latina women. https://doi.org/10.1101/2022.08.01.502349

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