Characterizing Racial Disparity in Cancers by Predicting Candidate Biomarker.

Judy Bai, Daniel Zhou,Yan Guo

2023 IEEE International Conference on Bioinformatics and Biomedicine (BIBM)(2023)

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摘要
Cancer is an abnormal division of cells and can spread to multiple tissues. Race has been reported as a determining factor in cancer susceptibility and, therefore, survival rate. The risks of malignancies among individuals of African ancestry and Asians compared to Caucasians are reported to be distinctive. Genetic factors due to mutations in DNA have been linked to the cause of specific cancer types and could play a key role in the survival of cancer patients. The Cancer Genome Atlas (TCGA) is a project initiated by the National Cancer Institute with the goal of characterizing genetic patterns for 34 cancer types/subtypes.By processing the genome sequencing datasets of TCGA cancers, we calculated the number of mutated genes (mutation frequency) for each TCGA cancer type and selected top five cancers based on the count of the uniquely mutated genes in cancer patients of different ethnicities. We then identified overlapping genes through conducting proportion tests for their mutation frequencies between races in each of selected cancers to look for evidence of racial disparity. Lastly, we performed functional annotation, key pathway analyses, and protein conserved domain detection for uniquely mutated genes between races.Our study revealed key cancer pathways and protein domains of identified driver genes contributing to the disparity in mortality rates between races. We developed a bioinformatics pipeline method for comparing survival disparities between races of TCGA cancers, which is deployed in the Google Colab notebook. The research findings from our study could offer racial-specific therapy recommendations for various malignancies.)
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关键词
cancers,mutations,racial disparities,superfamilies
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