Chow Elizabeth, Thirlwell Christina, Macrae Finlay, Lipton Lara
Royal Melbourne Hospital, Victoria, Australia.
Lancet Oncol. 2004 Oct;5(10):600-6. doi: 10.1016/S1470-2045(04)01595-5.
Polyposis associated with mutations in the gene MUTYH is an autosomal recessive syndrome characterised by the development of multiple colorectal adenomas and cancer. It is the first cancer-predisposition disorder to be associated with defects in the pathway of base-excision repair. We review our knowledge to date of the disease, discuss base-excision repair in relation to cellular defence against oxidative damage, and give an overview of the molecular genetics and clinicopathological features of tumours associated with MUTYH mutations. No longer a research finding, genetic testing for MUTYH is now a necessary part of molecular diagnosis in familial cancer clinics throughout Australia and the UK. Current recommendations for the screening and management of the disease are also discussed.
与MUTYH基因突变相关的息肉病是一种常染色体隐性综合征，其特征为多发性结肠直肠腺瘤和癌症的发生。它是首个与碱基切除修复途径缺陷相关的癌症易感性疾病。我们回顾了目前对该疾病的认识，讨论了与细胞抗氧化损伤防御相关的碱基切除修复，并概述了与MUTYH突变相关肿瘤的分子遗传学和临床病理特征。MUTYH基因检测不再是一项研究发现，目前已成为澳大利亚和英国各地家族性癌症诊所分子诊断的必要组成部分。本文还讨论了该疾病目前的筛查和管理建议。
