Yale University, School of Medicine, New Haven, CT, USA.
Laboratory of Biophysics, Condensed Matter Physics Department, Jožef Stefan Institute, Jamova Cesta 39, Ljubljana, Slovenia.
Nat Commun. 2024 Sep 19;15(1):8218. doi: 10.1038/s41467-024-52554-5.
In the United States, Black individuals have higher rates of cancer mortality than any other racial group. Here, we examine chromosome copy number changes in cancers from more than 1800 self-reported Black patients. We find that tumors from self-reported Black patients are significantly more likely to exhibit whole-genome duplications (WGDs), a genomic event that enhances metastasis and aggressive disease, compared to tumors from self-reported white patients. This increase in WGD frequency is observed across multiple cancer types, including breast, endometrial, and lung cancer, and is associated with shorter patient survival. We further demonstrate that combustion byproducts are capable of inducing WGDs in cell culture, and cancers from self-reported Black patients exhibit mutational signatures consistent with exposure to these carcinogens. In total, these findings identify a type of genomic alteration that is associated with environmental exposures and that may influence racial disparities in cancer outcomes.
在美国，黑人的癌症死亡率高于其他任何种族群体。在这里，我们研究了来自 1800 多名自我报告为黑人的患者的癌症中的染色体拷贝数变化。我们发现，与自我报告为白人的患者的肿瘤相比，自我报告为黑人的患者的肿瘤更有可能表现出全基因组加倍（WGD），这是一种增强转移和侵袭性疾病的基因组事件。这种 WGD 频率的增加在多种癌症类型中都观察到，包括乳腺癌、子宫内膜癌和肺癌，并且与患者生存时间缩短有关。我们进一步证明，燃烧副产物能够在细胞培养中诱导 WGD，并且自我报告为黑人的患者的癌症表现出与接触这些致癌剂一致的突变特征。总的来说，这些发现确定了一种与环境暴露有关的基因组改变，它可能影响癌症结果中的种族差异。
