{"title":"早发性结直肠癌的遗传和表观遗传格局","authors":"C. Boland, A. Goel, Swati G. Patel","doi":"10.2217/crc-2020-0005","DOIUrl":null,"url":null,"abstract":"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.","PeriodicalId":43638,"journal":{"name":"Colorectal Cancer","volume":" ","pages":""},"PeriodicalIF":2.7000,"publicationDate":"2020-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.2217/crc-2020-0005","citationCount":"9","resultStr":"{\"title\":\"The genetic and epigenetic landscape of early-onset colorectal cancer\",\"authors\":\"C. Boland, A. Goel, Swati G. Patel\",\"doi\":\"10.2217/crc-2020-0005\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"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.\",\"PeriodicalId\":43638,\"journal\":{\"name\":\"Colorectal Cancer\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":2.7000,\"publicationDate\":\"2020-09-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.2217/crc-2020-0005\",\"citationCount\":\"9\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Colorectal Cancer\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.2217/crc-2020-0005\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"ONCOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Colorectal Cancer","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.2217/crc-2020-0005","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"ONCOLOGY","Score":null,"Total":0}
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.
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.
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