Dunlop Malcolm G, Farrington Susan M
Colon Cancer Genetics Group, Institute of Genetics and Molecular Medicine, University of Edinburgh and MRC Human Genetics Unit, Western General Hospital, Edinburgh EH4 2XU, UK.
Surg Oncol Clin N Am. 2009 Oct;18(4):599-610. doi: 10.1016/j.soc.2009.08.003.
This article reviews the role of defective base excision repair, and MUTYH specifically, in colorectal cancer etiology and discusses the consequences of MUTYH gene defects, with particular emphasis on clinical relevance to colorectal polyposis, colorectal cancer risk, and appraising the risk of extra-colonic malignancy. Evidence guiding clinical practice, in terms of surveillance recommendations and options for surgical and other prophylactic interventions, is reviewed.
本文综述了缺陷碱基切除修复，特别是MUTYH在结直肠癌病因学中的作用，并讨论了MUTYH基因缺陷的后果，尤其强调其与结直肠息肉病、结直肠癌风险的临床相关性，以及评估结肠外恶性肿瘤的风险。本文还综述了在监测建议以及手术和其他预防性干预措施方面指导临床实践的证据。
