早发性结直肠癌的遗传和表观遗传格局

IF 2.7 Q3 ONCOLOGY

Colorectal Cancer Pub Date : 2020-09-01 DOI:10.2217/crc-2020-0005

C. Boland, A. Goel, Swati G. Patel

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引用次数: 9

摘要

结直肠癌(CRC)在50岁以下的个体是一个问题，在美国和世界各地正在增加。在这篇综述中，我们讨论了早发性(EO)CRC在多大程度上可能是由于未预料到的Lynch综合征或其他易患癌症的遗传种系变异，描述了EO肿瘤中已知的体细胞遗传改变，并讨论了DNA甲基化的改变。大约20%的eoccs可归因于可识别的生殖系基因突变，这些突变可导致家族性癌症综合征。各种其他遗传/表观遗传改变也已被报道。我们得出结论，这是一个异质性问题，需要对遗传/表观遗传特征进行全面分析，以更好地理解EOCRC。必须单独分析eoccs的各种亚群，以寻找有关该病的病因和可能的特异性治疗方法的线索。

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The genetic and epigenetic landscape of early-onset colorectal cancer

Colorectal cancer (CRC) in individuals under the age of 50 is a problem that is increasing in USA and around the world. In this review, we discuss the degree to which early-onset (EO)CRC may be due to unsuspected Lynch syndrome or other inherited germline variants that predispose to cancer, describe the known somatic genetic alterations in EO tumors and discuss alterations in DNA methylation. Approximately 20% of EOCRCs can be attributed to identifiable germline mutations in genes that cause familial cancer syndromes. A variety of other genetic/epigenetic alterations have also been reported. We conclude that this is a heterogeneous problem, that requires a comprehensive analysis of genetic/epigenetic signatures to better understand EOCRC. Various subsets of EOCRCs must be analyzed individually for clues regarding the etiologies and possible specific therapies for this disease.

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来源期刊

Colorectal Cancer ONCOLOGY-

自引率

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发文量

期刊介绍： Colorectal cancer is a major cause of morbidity and mortality, particularly in the developed world. Risk factors for colorectal cancer are on the rise in many countries; populations are aging, and obesity and diabetes are increasing. National screening programs are helping to detect cancer while it is still curable; however, colorectal cancer remains the third leading cause of cancer deaths in the USA and options are still limited for those with more advanced disease. Consequently, colorectal cancer is a major research priority for government, pharmaceutical companies and non-profit organizations. Research into diagnosis and optimum treatment of the disease is progressing rapidly, with new advances reported every day. Colorectal Cancer presents reviews, analysis and commentary. on all aspects of colorectal cancer.