Hereditary nonpolyposis colorectal cancer (HNPCC), also referred to as Lynch syndrome, is the most common form of hereditary colorectal cancer and is responsible for 2% to 4% of all colorectal cancers in the Western hemisphere. Generally characterized by early-onset colorectal carcinoma with a mean age of presentation of 40 to 45 years, it can also manifest with extracolonic adenocarcinomas and cancers of the endometrium, ovaries, stomach, pancreas, small intestine, hepatobiliary tract, upper uroepithelial tract, brain, and skin. HNPCC is autosomal dominant and carries an 80% lifetime risk of cancer development. This review addresses the molecular underpinnings of HNPCC while providing a concise approach to clinical detection, diagnosis, and management of patients who may or may not test positive for an HNPCC-causing mutation. Although applicable to any patient-care setting in which cancer may be observed, this review specifically addresses the role of nurses in detecting, diagnosing, and clinically managing HNPCC.

译文

遗传性非息肉性结直肠癌(HNPCC),也称为Lynch综合征,是遗传性结直肠癌的最常见形式,占西半球所有结直肠癌的2%至4%。一般以早发性大肠癌为特征,平均发病年龄为40至45岁,也可表现为结肠外腺癌和子宫内膜癌,卵巢癌,胃癌,胰腺癌,小肠癌,肝胆道癌,尿道上皮道癌,脑癌和皮肤。 HNPCC是常染色体显性基因,终生罹患癌症的风险为80%。这项审查解决了HNPCC的分子基础,同时为临床检测,诊断和管理可能会或可能不会导致HNPCC突变的患者提供了简洁的方法。尽管适用于可能观察到癌症的任何患者护理环境,但本次审查特别针对护士在检测,诊断和临床管理HNPCC中的作用。

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