Zambrano-O Yina T, Mejía-Garcia Alejandro, Morales P Daniela, Tsao Hsuan Megan, Rey-Vargas Laura, Montero-Ovalle Wendy, Huertas-Caro Carlos A, Sanabria-Salas M C, Riaño-Moreno Julián, Rodriguez Juliana L, Orozco Carlos A, Lopez-Kleine Liliana, Jordan I King, Serrano-G Silvia J
Grupo de Investigación en Biología del Cáncer, Instituto Nacional de Cancerología, Cl. 1 #9-85, Bogotá, Colombia.
Universidad Nacional de Colombia - sede Bogotá, Bogotá, Colombia.
Breast Cancer Res Treat. 2025 Apr;210(2):251-259. doi: 10.1007/s10549-024-07557-7. Epub 2024 Dec 7.
Cancer health disparities among racial and ethnic populations significantly burden health systems due to unequal access to early detection, treatment, and healthcare resources. These disparities lead to worse outcomes and increased costs from delayed diagnoses, advanced treatments, and prolonged care. Genetic differences can also influence cancer susceptibility and treatment response, thus analyzing genetic ancestry is essential for uncovering genetic factors that may contribute to these disparities. Utilizing data from clinical multigene cancer panels to infer genetic ancestry offers a valuable approach to understand population structure and the impact of individual ancestries in development of complex diseases.
To evaluate the accuracy of global ancestry inference using genetic markers from the TruSight™ Hereditary Cancer Panel, which was used to investigate hereditary cancer syndromes in a cohort of 116 female cancer patients at the Colombian National Cancer Institute. Additionally, to compare these results with genetic ancestry estimations from traditional genome-wide markers.
Our results demonstrate a strong correlation between global genetic ancestry inferred with markers captured from TruSight panel (4785 markers) and Whole Genome Sequencing (WGS, 8 million markers in admixed populations. The correlation values were 0.96 (p < 0.0001) for the Native American and European ancestry components, and 0.99 (p < 0.0001) for the African ancestry fraction. Genetic ancestry mean proportions in the Colombian cohort were 45.7%, 46.2%, and 8.11% for the European, the Native American, and the African components, respectively.
This study demonstrates the accuracy of ancestry inference from clinical panel data offering a promising approach for understanding cancer health disparities in admixed populations.
种族和族裔人群之间的癌症健康差异给卫生系统带来了巨大负担，原因是在早期检测、治疗和医疗资源获取方面存在不平等。这些差异导致了更差的治疗结果，并因诊断延迟、晚期治疗和长期护理而增加了成本。基因差异也会影响癌症易感性和治疗反应，因此分析遗传血统对于揭示可能导致这些差异的遗传因素至关重要。利用临床多基因癌症检测板的数据来推断遗传血统，为理解人群结构以及个体血统在复杂疾病发展中的影响提供了一种有价值的方法。
评估使用TruSight™遗传性癌症检测板中的基因标记进行全球血统推断的准确性，该检测板用于调查哥伦比亚国家癌症研究所的116名女性癌症患者队列中的遗传性癌症综合征。此外，将这些结果与传统全基因组标记的遗传血统估计结果进行比较。
我们的结果表明，用TruSight检测板（4785个标记）捕获的标记推断的全球遗传血统与全基因组测序（WGS，混合人群中有800万个标记）之间存在很强的相关性。美洲原住民和欧洲血统成分的相关值为0.96（p < 0.0001），非洲血统部分的相关值为0.99（p < 0.0001）。在哥伦比亚队列中，欧洲、美洲原住民和非洲血统成分的遗传血统平均比例分别为45.7%、46.2%和8.11%。
本研究证明了从临床检测板数据进行血统推断的准确性，为理解混合人群中的癌症健康差异提供了一种有前景的方法。
