Jacobs L A
University of Pennsylvania School of Nursing, Philadelphia, USA.
Oncol Nurs Forum. 1998 May;25(4):719-25.
PURPOSE/OBJECTIVES: To describe the general mechanisms of cancer development and the specific genetic basis for hereditary nonpolyposis colon cancer (HNPCC); to discuss methods of genetic testing, surveillance, and management guidelines; and to review relevant psychosocial issues.
Published papers, research reports, and books.
Colorectal cancer is one of the most common neoplasms in humans and perhaps the most frequent form of hereditary neoplasia. HNPCC has an autosomal dominant pattern of inheritance with variable but high penetrance estimated to be about 90%. HNPCC underlies 0.5%-10% of all cases of colorectal cancer.
An understanding of the mechanisms behind the development of HNPCC is emerging, and genetic presymptomatic testing, now being conducted in research settings, soon will be available on a widespread basis for individuals identified at risk for this disease. Complex medical, nursing, legal, ethical, and psychosocial issues demand oncology nurses' attention and understanding.
Oncology nurses in all settings play an integral role assisting patients in (a) understanding their genetic risk status and the implications of genetic testing, (b) making decisions regarding HNPCC genetic predisposition testing, and (c) understanding the meaning of DNA test results. Nurses also may assist patients in understanding and complying with recommended surveillance and management issues.
目的/目标：描述癌症发生的一般机制以及遗传性非息肉病性结直肠癌（HNPCC）的特定遗传基础；讨论基因检测、监测方法及管理指南；并回顾相关心理社会问题。
已发表的论文、研究报告和书籍。
结直肠癌是人类最常见的肿瘤之一，可能也是最常见的遗传性肿瘤形式。HNPCC呈常染色体显性遗传模式，其外显率可变但较高，估计约为90%。所有结直肠癌病例中有0.5% - 10%是由HNPCC引起的。
对HNPCC发生背后机制的认识正在不断涌现，目前在研究环境中进行的基因症状前检测，很快将广泛应用于确定有患该病风险的个体。复杂的医学、护理、法律、伦理和心理社会问题需要肿瘤护理人员予以关注和理解。
所有环境中的肿瘤护理人员在协助患者方面发挥着不可或缺的作用，包括（a）了解其遗传风险状况及基因检测的意义，（b）就HNPCC遗传易感性检测做出决策，以及（c）理解DNA检测结果的含义。护士还可协助患者理解并遵守推荐的监测和管理事项。
