Huang, Xiaosong and Lott, Paul C. and Hu, Donglei and Zavala, Valentina A. and Jamal, Zoeb N. and Vidaurre, Tatiana and Casavilca-Zambrano, Sandro and Vasquez, Jeannie Navarro and Castaneda, Carlos A. and Valencia, Guillermo and Morante, Zaida and Calderon, Monica and Abugattas, Julio E. and Fuentes, Hugo A. and Liendo-Picoaga, Ruddy and Cotrina, Jose M. and Neciosup, Silvia P. and Rioja Viera, Patricia and Salinas, Luis A. and Galvez-Nino, Marco and Huntsman, Scott and Sanchez, Sixto E. and Williams, Michelle A. and Gelaye, Bizu and Estrada-Florez, Ana P. and Polanco-Echeverry, Guadalupe and Echeverry, Magdalena and Velez, Alejandro and Carmona-Valencia, Jenny A. and Bohorquez-Lozano, Mabel E. and Torres, Javier and Cruz, Miguel and Ho, Weang-Kee and Teo, Soo Hwang and Tai, Mei Chee and John, Esther M. and Haiman, Christopher A. and Conti, David V. and Chen, Fei and Torres-Mejia, Gabriela and Kushi, Lawrence H. and Neuhausen, Susan L. and Ziv, Elad and Carvajal-Carmona, Luis G. and COLUMBUS Consortium, Laura and Fejerman, Laura (2025) Evaluation of Multiple Breast Cancer Polygenic Risk Score Panels in Women of Latin American Heritage. Cancer Epidemiology Biomarkers & Prevention, 34 (2). pp. 234-245. ISSN 1055-9965, DOI https://doi.org/10.1158/1055-9965.EPI-24-1247.
Full text not available from this repository.Abstract
Background: A substantial portion of the genetic predisposition for breast cancer is explained by multiple common genetic variants of relatively small effect. A subset of these variants, which have been identified mostly in individuals of European (EUR) and Asian ancestries, have been combined to construct a polygenic risk score (PRS) to predict breast cancer risk, but the prediction accuracy of existing PRSs in Hispanic/Latinx individuals (H/L) remain relatively low. We assessed the performance of several existing PRS panels with and without addition of H/L-specific variants among self-reported H/L women.Methods: PRS performance was evaluated using multivariable logistic regression and the area under the ROC curve.Results: Both EUR and Asian PRSs performed worse in H/L samples compared with original reports. The best EUR PRS performed better than the best Asian PRS in pooled H/L samples. EUR PRSs had decreased performance with increasing Indigenous American (IA) ancestry, while Asian PRSs had increased performance with increasing IA ancestry. The addition of two H/L SNPs increased performance for all PRSs, most notably in the samples with high IA ancestry, and did not impact the performance of PRSs in individuals with lower IA ancestry.Conclusions: A single PRS that incorporates risk variants relevant to the multiple ancestral components of individuals from Latin America, instead of a set of ancestry-specific panels, could be used in clinical practice.Impact: The results highlight the importance of population-specific discovery and suggest a straightforward approach to integrate ancestry-specific variants into PRSs for clinical application.
| Item Type: | Article |
|---|---|
| Funders: | Placer Breast Cancer Endowed Chair, University of California Davis, United States Department of Health & Human Services National Institutes of Health (NIH) - USA NIH National Cancer Institute (NCI), California Precision Medicine Initiative Grant, Office of the California Governor, Universidad del Tolima, Colombia (10112) ; (520115), MINCIENCIAS, Colombia program "Becas Doctorales Nacionales" (528-2011) ; (647-2015), MINCIENCIAS, Colombia program "Formacion de Capital Humano de Alto Nivel para el Departamento de Tolima- 2016" (755-2016), L'OREAL-UNESCO-ICETEX-COLCIENCIAS, Colombia (3900917/2017), Coordinacion Nacional de Investigacion en Salud, Instituto Mexicano del Seguro Social, Mexico (FIS/IMSS/PROT/PRIO/13/027), Consejo Nacional de Ciencia y Tecnologia (CONACyT) (773), AACR Fellowship (21-40-69-ESTR), Heart, BrEast, and BrAin HeaLth Equity Research Program, GSK Oncology Ethnic Research Initiative, Towards Health Equity Oncology Grant, Gilead Sciences, Auburn Community Cancer Endowed Chair in Basic Research, U.S, United States Department of Health & Human Services National Institutes of Health (NIH) - USA NIH National Cancer Institute (NCI) (R01-CA286650) ; (R01-CA273313) ; (R01-CA204797) ; (OPR18111) ; (19425) ; (5D43CA260869-01) |
| Subjects: | R Medicine > R Medicine (General) R Medicine > RC Internal medicine > RC0254 Neoplasms. Tumors. Oncology (including Cancer) |
| Divisions: | Faculty of Medicine > Surgery Department |
| Depositing User: | Ms. Juhaida Abd Rahim |
| Date Deposited: | 29 Apr 2025 08:40 |
| Last Modified: | 29 Apr 2025 08:40 |
| URI: | http://eprints.um.edu.my/id/eprint/47904 |
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