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社会、遗传和组织病理学因素与卵巢浆液性囊腺癌妇女 () 基因突变和生存的关系:生物信息学分析。

Social, Genetics and Histopathological Factors Related to () Gene Mutation and Survival in Women with Ovarian Serous Cystadenocarcinoma: Bioinformatics Analysis.

机构信息

Postgraduate Program in Health, Environment and Society in the Amazon (PPGSAS), Federal University of Pará (UFPA), Street Augusto Corrêa, 01, University City: José Silveira Neto, Health sector: Guamá, Belém 66075-110, PA, Brazil.

Faculty of Medicine CERES (FACERES), São José do Rio Preto 15090-305, SP, Brazil.

出版信息

Genes (Basel). 2023 May 16;14(5):1092. doi: 10.3390/genes14051092.

DOI:10.3390/genes14051092
PMID:37239452
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10218003/
Abstract

Several factors may increase the risk of development of ovarian cancer. In this study, we investigated the relationship between social, genetic, and histopathologic factors in women with ovarian serous cystadenocarcinoma and titin () mutations, whether the gene mutation may be a predictor, and its impact on mortality and survival in these patients. A total of 585 samples from patients with ovarian serous cystadenocarcinoma were collected from The Cancer Genome Atlas and PanCancer Atlas through the cBioPortal for analysis of social, genetic, and histopathological factors. Logistic regression was used to investigate whether mutation could be a predictor, and the Kaplan-Meier method was applied to analyze survival time. mutation frequency did not differ between age at diagnosis, tumor stage, and race, and was related to increased Buffa hypoxia score ( = 0.004), mutation count ( < 0.0001), Winter hypoxia Score ( = 0.030), nonsynonymous tumor mutation burden (TMB) ( < 0.0001), and reduced microsatellite instability sensor score ( = 0.010). The number of mutations ( < 0.0001) and winter hypoxia score ( = 0.008) were positively associated with mutations, and nonsynonymous TMB ( < 0.0001) proved to be a predictor. Mutated affects the score of genetic variables involved in cancer cell metabolism in ovarian cystadenocarcinoma.

摘要

一些因素可能会增加卵巢癌发展的风险。在这项研究中,我们调查了卵巢浆液性囊腺癌和肌联蛋白()突变患者的社会、遗传和组织病理学因素之间的关系,基因突变是否可以作为预测因子,及其对这些患者死亡率和生存率的影响。总共从 The Cancer Genome Atlas 和 PanCancer Atlas 通过 cBioPortal 收集了 585 例卵巢浆液性囊腺癌患者的样本,用于分析社会、遗传和组织病理学因素。使用逻辑回归来研究是否突变可以作为预测因子,Kaplan-Meier 方法用于分析生存时间。突变频率与诊断时的年龄、肿瘤分期和种族无关,与增加的 Buffa 缺氧评分(=0.004)、突变计数(<0.0001)、Winter 缺氧评分(=0.030)、非同义肿瘤突变负荷(TMB)(<0.0001)和减少的微卫星不稳定传感器评分(=0.010)有关。突变数量(<0.0001)和冬季缺氧评分(=0.008)与突变呈正相关,非同义 TMB(<0.0001)被证明是一个预测因子。突变的影响卵巢囊腺癌中涉及癌细胞代谢的遗传变量的评分。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9049/10218003/d451deba6c0c/genes-14-01092-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9049/10218003/ce8fbc90a7b8/genes-14-01092-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9049/10218003/d451deba6c0c/genes-14-01092-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9049/10218003/ce8fbc90a7b8/genes-14-01092-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9049/10218003/d451deba6c0c/genes-14-01092-g002.jpg

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