MUTYH相关息肉病：爱尔兰的经验

MUTYH-Associated Polyposis: The Irish Experience>.

作者信息

McVeigh T P, Duff M, Carroll C, O'Shea R, Bradley L, Farrell M, Gallagher D J, Clabby C, Green A J

机构信息

Department of Clinical Genetics, Our Lady's Children's Hospital Crumlin, Dublin 12.

Discipline of Surgery, Lambe Institute for Translational Research, National University of Ireland, Galway.

出版信息

Ir Med J. 2016 Dec 12;109(10):485.

PMID:28644590

Abstract

MUTYH is involved in DNA damage repair. Bi-allelic MUTYH mutations predispose to polyposis and gastrointestinal malignancies, distinct genetically from autosomal dominant familial adenomatous polyposis coli. Two common European MUTYH mutations account for 90% of MUTYH-associated polyposis (MAP). We aimed to examine the incidence of MAP in Ireland. A retrospective cohort study was undertaken. Patients undergoing MUTYH testing from 2003-2016 were identified by searching electronic databases using terms "MUTYH" and "MYH". Phenotypic and genotypic details were obtained by chart review. Bi-allelic mutations were confirmed in 26 individuals (17 families), of whom 16 (62%) developed colorectal malignancies, and 22(85%) polyposis. Eleven families had bi-allelic status for one/both common European mutations. Regional variation was noted, with over-representation of bi-allelic mutation carriers in the South-west of Ireland. MAP is under-diagnosed in Ireland. Increased awareness is required to facilitate appropriate identification and surveillance of bi-allelic mutation carriers for colorectal pathology.

摘要

MUTYH参与DNA损伤修复。双等位基因MUTYH突变易导致息肉病和胃肠道恶性肿瘤，在基因上与常染色体显性家族性腺瘤性息肉病不同。两种常见的欧洲MUTYH突变占MUTYH相关息肉病（MAP）的90%。我们旨在研究爱尔兰MAP的发病率。进行了一项回顾性队列研究。通过使用术语“MUTYH”和“MYH”搜索电子数据库，确定了2003年至2016年期间接受MUTYH检测的患者。通过查阅病历获得表型和基因型细节。在26名个体（17个家族）中确认了双等位基因突变，其中16人（62%）发生了结直肠癌，22人（85%）发生了息肉病。11个家族具有一种/两种常见欧洲突变的双等位基因状态。注意到存在区域差异，爱尔兰西南部双等位基因突变携带者的比例过高。MAP在爱尔兰诊断不足。需要提高认识，以促进对双等位基因突变携带者进行适当的识别和监测，以便进行结直肠病理学检查。