尼日利亚伊巴丹市乳腺癌和卵巢癌患者癌症风险评估的基因检测

M. Kochheiser, Toyin I G Aniagwu, P. Adejumo, O. Olopade
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引用次数: 0

摘要

癌症是女性癌症相关死亡的主要原因,癌症是所有妇科癌症中病死率最高的。在尼日利亚,大约80%的癌症和卵巢癌病例被诊断为晚期。基因检测有可能降低与癌症晚期诊断相关的发病率和死亡率。伊巴丹大学学院医院(UCH)引入基因检测进行癌症风险评估将成为尼日利亚其他地区的典范。本研究的目的是引入基因检测,对尼日利亚伊巴丹的癌症和卵巢癌患者进行癌症风险评估,并确定接受检测的女性的人口统计数据以及她们对基因检测的益处和障碍的看法。癌症或乳腺癌患者被招募到UCH。所有患者都接受了基因咨询,并有机会在获得伦理批准后免费同意进行颜色基因组遗传癌症小组测试。对患者进行了30个已知与8种遗传性癌症相关的基因突变测试。测试后,患者完成了一份半标准化问卷,评估他们的社会人口学信息、癌症家族史以及基因测试的益处和障碍。7名癌症患者和40名癌症患者接受了基因咨询,他们都选择接受随后的基因检测。检测的平均年龄为49岁,癌症诊断的平均年龄是47岁。八名女性报告了已知的癌症家族史,而且基因检测的好处比障碍更多。基因检测结果显示有27个阴性突变、16个意义未知的变异和4个致病性突变。UCH的乳腺癌和卵巢癌癌症患者将基因检测与他们的护理益处联系起来。这些结果表明,基因检测在尼日利亚癌症风险管理方面具有增长和可持续性的潜力。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Genetic Testing for Cancer Risk Assessment in Patients With Breast and Ovarian Cancer in Ibadan, Nigeria
Breast cancer is the leading cause of cancer-related death among women, and ovarian cancer has the highest case fatality rate of all gynecologic cancers. In Nigeria, approximately 80% of breast and ovarian cancer cases are diagnosed at advanced stages. Genetic testing has the potential to reduce the morbidity and mortality associated with late cancer diagnosis. The introduction of genetic testing for cancer risk assessment at University College Hospital (UCH), Ibadan will serve as a model for the rest of Nigeria. The objective of this study was to introduce genetic testing for cancer risk assessment in patients with breast and ovarian cancer in Ibadan, Nigeria and to determine the demographics of women undergoing testing and their perceptions concerning the benefits of and barriers to genetic testing. Patients with breast or ovarian cancer were recruited at UCH. All patients received genetic counseling and had the opportunity to consent to the Color Genomics Hereditary Cancer Panel Test, free of charge, after due ethical approval. Patients were tested for 30 gene mutations with known associations to eight hereditary cancers. After testing, patients completed a semistandardized questionnaire assessing their sociodemographic information, family cancer history, and perceived benefits and barriers to genetic testing. Seven patients with ovarian cancer and 40 patients with breast cancer received genetic counseling, and all chose to undergo subsequent genetic testing. The average age at testing was 49 years, and the average age at cancer diagnosis was 47 years. Eight women reported a known family cancer history, and there were more perceived benefits than barriers to genetic testing. The genetic test results revealed 27 negative mutations, 16 variants of unknown significance, and four pathogenic mutations. Patients with breast and ovarian cancer at UCH associate genetic testing with benefits for their care. These results suggest potential for growth and sustainability of genetic testing for cancer risk management in Nigeria.
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来源期刊
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审稿时长
20 weeks
期刊介绍: The Journal of Global Oncology (JGO) is an online only, open access journal focused on cancer care, research and care delivery issues unique to countries and settings with limited healthcare resources. JGO aims to provide a home for high-quality literature that fulfills a growing need for content describing the array of challenges health care professionals in resource-constrained settings face. Article types include original reports, review articles, commentaries, correspondence/replies, special articles and editorials.
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