McVeigh T P, Duff M, Carroll C, O'Shea R, Bradley L, Farrell M, Gallagher D J, Clabby C, Green A J
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.
Ir Med J. 2016 Dec 12;109(10):485.
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.
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。
