The Manchester Scoring System for predicting BRCA1/2 mutations underperforms in Arabic Omani breast cancer patients.

IF 1.9 4区 医学 Q3 GENETICS & HEREDITY Journal of Genetic Counseling Pub Date : 2024-06-18 DOI:10.1002/jgc4.1939
Chantel van Wyk, Hasan Al-Sayegh, Sara I Al-Kiyumi, Ghaida S Al-Mamari, Abeer A Al Saegh
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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.

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预测 BRCA1/2 基因突变的曼彻斯特评分系统在阿拉伯阿曼乳腺癌患者中表现不佳。
用于评估终生癌症风险和致病变异风险的风险评估模型更常用于西方人群。在未经验证的情况下将这些模型用于非西方人群受到质疑。本研究旨在评估曼彻斯特评分系统作为风险评估模型在阿曼人群中的使用情况和一致性。研究人员对基因组学部门两年来接诊的乳腺癌患者进行了回顾性档案分析。个人癌症病史和家族病史用于分析 409 名乳腺癌和/或癌症患者的曼彻斯特评分。结果显示,总体而言,曼彻斯特评分较低。如果使用该风险评估模型来确定先验服务和基因检测决策的资格,将有 12 例 BRCA 致病病例被遗漏。目前,曼彻斯特评分系统似乎并不是用于阿曼人群的最佳风险评估模型,除非使用≥6 分的资格阈值,这可以为阿曼人群提供更好的灵敏度。我们建议使用曼彻斯特评分模型的概念来创建一个更适合阿曼和阿拉伯人口的评分系统。
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来源期刊
Journal of Genetic Counseling
Journal of Genetic Counseling GENETICS & HEREDITY-
CiteScore
3.80
自引率
26.30%
发文量
113
审稿时长
6 months
期刊介绍: The Journal of Genetic Counseling (JOGC), published for the National Society of Genetic Counselors, is a timely, international forum addressing all aspects of the discipline and practice of genetic counseling. The journal focuses on the critical questions and problems that arise at the interface between rapidly advancing technological developments and the concerns of individuals and communities at genetic risk. The publication provides genetic counselors, other clinicians and health educators, laboratory geneticists, bioethicists, legal scholars, social scientists, and other researchers with a premier resource on genetic counseling topics in national, international, and cross-national contexts.
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