全面的英语国家林奇综合征登记:开发和描述一个新的基因组学数据资源

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Catherine Huntley^1,2, Lucy Loong^1,2, Corinne Mallinson²

¹Division of Genetics and Epidemiology, The Institute of Cancer Research, Sutton, UK.

EClinicalMedicine

|February 15, 2024

概括

在英格兰建立了一个新的林奇综合征 (LS) 携带者注册表,改善了癌症倾向综合征研究的数据. 该注册表有助于理解LS的结果和评估测试指南.

科学领域:

遗传学和基因组学在
在瘤学瘤学.
公共卫生公共卫生

背景情况:

林奇综合征 (LS) 是一种遗传性癌症倾向,由不匹配修复 (MMR) 基因中的致病变体引起.
碎片化数据阻碍了国家LS确定,结果研究和临床指导方针的评估.
一个合作的努力建立了英语国家林奇综合症注册表 (ENLSR),以整合这些信息.

研究的目的:

在英格兰创建一个关于林奇综合征携带者的综合性国家登记.
分析LS患者的人口,遗传和临床特征.
为了促进LS测试和管理策略的评估.

主要方法:

从所有英语临床遗传学服务中回顾性收集数据 (2023年之前) 和通过在线门户网站提交前性数据 (2023年之后).
国家疾病登记服务 (NDRS) 的专家对数据进行验证和合并.
与国家癌症登记数据集 (NCRD) 的链接,用于癌症结局分析.

主要成果:

该ENLSR包括9030个独特的个体,MSH2 (37.2%) 和MLH1 (29.1%) 是最常见的致病性MMR基因.
35.9%的人在第一次癌症之前接受了LS诊断,其中6.3%的人在51岁的中位年龄发展为结肠直肠癌,比普通人群 (73岁) 显著年轻.
该注册表代表了全球最大的MMR病原性变异携带者队伍之一.

结论:

ENLSR是英格兰首个全面的LS运营商国家注册表,为研究提供了至关重要的资源.
已建立的基础设施确保了持续的数据收集,用于持续的LS研究和临床指南评估.
这些发现强调了早期诊断和LS患者的积极管理的重要性,以改善癌症的结果.

关键词:

数据数据数据数据数据基因组学就是基因组学.林奇综合征是什么? 林奇综合征是什么?登记处登记处登记处

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