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遗传性结肠癌的诊断与管理

Diagnosis and management of hereditary colon cancer.

作者信息

Cruz-Correa Marcia, Giardiello Francis M

机构信息

Division of Gastroenterology, Department of Medicine, Johns Hopkins University School of Medicine, Johns Hopkins Hospital, 1830 East Monument Street, Room 431, Baltimore, MD 21205, USA.

出版信息

Gastroenterol Clin North Am. 2002 Jun;31(2):537-49, x. doi: 10.1016/s0889-8553(02)00009-2.

Abstract

Colorectal cancer is the third leading cause of cancer and the second leading cause of cancer death in the United States. About 130,000 new cases are diagnosed each year in North America, and 56,600 persons die annually from this disease. Approximately 5% of patients with colorectal cancer have clearly defined inherited syndromes such as familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer. These conditions are well described both genetically and phenotypically, and are characterized by autosomal dominant inheritance, high penetrance, and high risk of colorectal cancer. We review the current recommendations for the diagnosis and management of these two hereditary forms of colorectal cancer.

摘要

结直肠癌是美国癌症的第三大主要病因和癌症死亡的第二大主要病因。在北美,每年约有13万例新病例被诊断出来,每年有56600人死于这种疾病。大约5%的结直肠癌患者有明确的遗传性综合征,如家族性腺瘤性息肉病和遗传性非息肉病性结直肠癌。这些病症在基因和表型方面都有很好的描述,其特征是常染色体显性遗传、高外显率和患结直肠癌的高风险。我们综述了这两种遗传性结直肠癌的诊断和管理的当前建议。

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