Biomedical Genetics Laboratory, Department of Zoology, The University of Burdwan, Burdwan, 713104, West Bengal, India.
J Racial Ethn Health Disparities. 2022 Dec;9(6):2441-2450. doi: 10.1007/s40615-021-01180-8. Epub 2021 Nov 5.
The study aimed to find differential gene mutation profile and gene expression status among different ethnic/racial human populations relevant for cervical cancer pathogenesis. The study was based on freely available datasets of The Cancer Genome Atlas (TCGA) of cervical cancer samples in Genomic Data Commons (GDC) data portal. We identified that choline metabolism in cancer and Ras signaling pathways were significantly associated with the Hispanic and Latino group of cervical cancer patients. In these pathways, mutations in the PIK3CA gene, especially E545K, were significantly associated with the Hispanic and LATINO group. We found that AFF3 gene mutation was associated with downregulation of its expression only among the White racial category of cervical cancer cases. Additionally, hypomethylation of the CpG position in the S shore region of the PM20D1 gene was associated with overexpression among the Asian category of cervical cancer cases. Heterogeneity of the molecular profile of AFF3 and PM20D1 gene among racial groups reflects the potential of differential targeted therapy of cervical cancer.
本研究旨在寻找与宫颈癌发病机制相关的不同种族/人群中差异基因突变谱和基因表达状态。该研究基于宫颈癌样本的癌症基因组图谱（TCGA）在基因组数据共享（GDC）数据门户中的免费数据集。我们发现，癌症中的胆碱代谢和 Ras 信号通路与西班牙裔和拉丁裔宫颈癌患者群体显著相关。在这些通路中，PIK3CA 基因的突变，特别是 E545K，与西班牙裔和拉丁裔群体显著相关。我们发现，AFF3 基因突变与宫颈癌病例中白人种族类别的表达下调有关。此外，PM20D1 基因 S 岸区 CpG 位置的低甲基化与宫颈癌病例中亚洲类别的过度表达有关。AFF3 和 PM20D1 基因在种族群体中的分子谱的异质性反映了宫颈癌差异化靶向治疗的潜力。
