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结直肠癌的遗传学

Genetics of colorectal cancer.

作者信息

Kennedy E P, Hamilton S R

机构信息

Department of Surgery, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

出版信息

Semin Surg Oncol. 1998 Sep;15(2):126-30. doi: 10.1002/(sici)1098-2388(199809)15:2<126::aid-ssu10>3.0.co;2-0.

DOI:10.1002/(sici)1098-2388(199809)15:2<126::aid-ssu10>3.0.co;2-0
PMID:9730419
Abstract

Recent years have brought great advances in the understanding of the pathogenesis of colorectal cancers. The elucidation of the underlying genetic alterations that produce these cancers has made it possible to broadly categorize this disease into two major types, hereditary and sporadic. The hereditary cancers have been divided further into recognized syndromes, mainly familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer. These syndromes have unique clinical pictures and different prognoses in addition to their different genetic bases. Sporadic cancers have been found to have analogous genetic alterations which propel them along the progression from normal tissue to benign adenoma/dysplasia to malignancy. These advances in genetics can potentially lead to clinically useful advances in detection, treatment, and, ultimately, prevention of colorectal cancer.

摘要

近年来,在对结直肠癌发病机制的认识方面取得了巨大进展。对引发这些癌症的潜在基因改变的阐明,使得将这种疾病大致分为两种主要类型成为可能,即遗传性和散发性。遗传性癌症进一步细分为已确认的综合征,主要是家族性腺瘤性息肉病和遗传性非息肉病性结直肠癌。这些综合征除了具有不同的基因基础外,还具有独特的临床表现和不同的预后。已发现散发性癌症具有类似的基因改变,这些改变促使它们从正常组织发展为良性腺瘤/发育异常再到恶性肿瘤。遗传学上的这些进展可能会在结直肠癌的检测、治疗以及最终预防方面带来临床上有用的进展。

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1
Genetics of colorectal cancer.结直肠癌的遗传学
Semin Surg Oncol. 1998 Sep;15(2):126-30. doi: 10.1002/(sici)1098-2388(199809)15:2<126::aid-ssu10>3.0.co;2-0.
2
Multistep carcinogenesis in colorectal cancers.结直肠癌的多步骤致癌过程。
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[Colorectal carcinogenesis: update].[结直肠癌发生:最新进展]
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Pathology and genetics of hereditary colorectal cancer.遗传性结直肠癌的病理学和遗传学
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Molecular and genetic defects in colorectal tumorigenesis.结直肠癌发生中的分子和基因缺陷
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[Familial forms of colon cancer, familial adenomatous polyposis, hereditary non-polyposis colorectal cancers].[家族性结肠癌、家族性腺瘤性息肉病、遗传性非息肉病性结直肠癌]
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Molecular biology in colorectal cancer.结直肠癌中的分子生物学
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Advances in the genetics and molecular biology of colorectal tumors.结直肠肿瘤的遗传学与分子生物学进展
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[Current concepts in the genetics of hereditary and sporadic colorectal cancer and the role of genetics in clinical practice: sporadic and IBD-associated colorectal tumors, significance of genetic tests in diagnosis, prognosis and assessment of chemotherapy outcome].[遗传性和散发性结直肠癌遗传学的当前概念以及遗传学在临床实践中的作用:散发性和炎症性肠病相关的结直肠肿瘤、基因检测在诊断、预后及化疗结果评估中的意义]
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Genetics of hereditary colorectal cancer.遗传性结直肠癌的遗传学
Semin Oncol. 2005 Feb;32(1):11-23. doi: 10.1053/j.seminoncol.2004.09.034.

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World J Surg Oncol. 2020 May 20;18(1):99. doi: 10.1186/s12957-020-01871-2.
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Tumor evolution and intratumor heterogeneity in colorectal carcinoma: insights from comparative genomic profiling of primary tumors and matched metastases.结直肠癌中的肿瘤演变与肿瘤内异质性:来自原发性肿瘤及配对转移灶比较基因组分析的见解
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Gastrointestinal stem cells and cancer: bridging the molecular gap.
胃肠道干细胞与癌症:弥合分子差距
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