关键词: BRCA1/2 Arabic population Manchester Scoring System risk assessment susceptibility testing underrepresented populations

来  源:   DOI:10.1002/jgc4.1939

Abstract:
Risk assessment models that are applied to assess the lifetime risk of cancer and pathogenic variant risk are more commonly used in Western populations. Using these models, without validation, for non-Western populations has been questioned. This study aimed to evaluate the use and consistency of the Manchester Scoring System as a risk assessment model for the Omani population. A retrospective, file-based analysis was performed on breast cancer patients seen in a genomics department over a two-year period. Personal cancer history and family history were used to analyze the Manchester scores of 409 breast and/or cancer patients. The results show that, overall, the Manchester scores were low. If this risk assessment model had been used to determine eligibility for a priori service and genetic testing decisions, 12 BRCA pathogenic cases would have been missed. At this time, the Manchester Scoring System does not seem to be the best risk assessment model for use in the Omani population, unless the eligibility threshold of ≥6 is used, which could provide a better sensitivity for the Omani population. We propose using concepts of the Manchester Scoring model to create a scoring system that is more suitable for the Omani and Arabic population.
摘要:
用于评估癌症终生风险和致病变异风险的风险评估模型在西方人群中更常用。使用这些模型,没有验证,对于非西方人口已经被质疑。本研究旨在评估曼彻斯特评分系统作为阿曼人口风险评估模型的使用和一致性。回顾,我们对基因组学部门2年的乳腺癌患者进行了基于文件的分析.使用个人癌症史和家族史来分析409名乳腺癌和/或癌症患者的曼彻斯特评分。结果表明,总的来说,曼彻斯特的得分很低。如果使用此风险评估模型来确定先验服务和基因检测决策的资格,12例BRCA致病病例将被遗漏。此时,曼彻斯特评分系统似乎不是阿曼人口使用的最佳风险评估模型,除非使用≥6的资格阈值,这可以为阿曼人口提供更好的敏感性。我们建议使用曼彻斯特评分模型的概念来创建更适合阿曼和阿拉伯人口的评分系统。
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