遗传性MUTYH基因突变与结直肠癌 - 浙江大学学报.PDF

浙江大学学报(医学版) VoI No 第36卷第4期 36 4 OF 2007卑 JOURNALZHEJIANGUNIVERSITY(MEDICALSCIENCES) 2007 http：∥WWW．／med 遗传性MUTYH基因突变与结直肠癌 周卉卉 综述，吕炳建，来茂德 审校 (浙江大学医学院病理学与病理生理学系，浙江 杭州310058) [摘 变引起的MUTYH相关性息肉(MAP)是一种腺瘤性结直肠息肉，可显著增加结直肠癌的发生率， 其分子机制一碱基切除修复系统(BER)的突变及与错配修复系统(MMR)的关联，已成为目前的热 点话题。文中对BER与DNA氧化损伤，BER与其它修复系统间的相互作用和MAP肿瘤发生机制， 临床表型及防治作了介绍。 [关键词]结直肠肿瘤；息肉；DNA修复；DNA损伤；突变；碱基切除修复；MUTYH； MUTYH相关性息肉；结直肠癌 735．3 [中图分类号]R [文献标识码]A[文章编号] InheritedmutationsofMUTYHandcolorectalcancer ZHOU of Hui—hui(DepartmentPathology，CollegeofMedicine，Zhejiang 310058，China) MUTYH，oneofbase—excision associatedwith [Abstract] repair human enzymes，is genetic disorders．InheritedbiallelicmutationsinthehumanMUTYHare an for gene responsible autosomalrecessive colorectal associated syndrome—adenomatous polyposis(MUTYHpolyposis， MAP)，which increasestheriskofcolorectalcancer(CRC)．Inthisarticlewereview significantly the betweenBERandtheoxidative toDNA，thefunctionalofBER relationship damage overlap withother of proteins，themolecularmechanism inMAP，anddelineatethe repair tumourigenesis MUTYH andits polyposisphenotypeprevention． Colorectal words] [Key neoplasms；Polyps；DNARepair；DNA —excision repair；MUTYH；MUTYHassociated