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在中低收入国家中使用和评估林奇综合征预测模型在遗传性结直肠癌和子宫内膜癌中的作用和可行性。

Use and feasibility of a Lynch Syndrome predictive model for inherited colorectal and endometrial cancer in a low-middle income country.

机构信息

McGovern Medical School, University of Texas Health Science Center at Houston, Houston, USA.

Liga Nacional Contra El Cáncer de Guatemala, Guatemala, Guatemala.

出版信息

Fam Cancer. 2024 Nov;23(4):563-567. doi: 10.1007/s10689-024-00422-y. Epub 2024 Sep 24.

Abstract

While universal tumor testing for Lynch Syndrome (LS) is recommended in all new diagnoses of colorectal cancer (CC) and endometrial cancer (EC), the cost and availability of this test in low-resource settings poses challenges. The PREdiction Model for gene Mutations (PREMM) is a clinical algorithm designed to assess the risk of an individual carrying estimates one's risk of carrying a LS mutation. This study aims to assess the feasibility of using PREMM to screen for LS risk in Guatemala. This cross-sectional pilot study enrolled 50 patients with colorectal or endometrial cancer receiving treatment at LIGA-INCAN, a cancer hospital in Guatemala City, between June 2022-July 2022. Patients were contacted by phone and administered the PREMM survey, followed by an additional feasibility questionnaire. Of the 50 participants, 62% of patients had a PREMM predicted probability of ≥ 2.5%, the threshold above which genetic testing is recommended. Almost all patients found the survey easy to complete (98%), were able to easily recall personal (90%) and family (88%) medical history, understood its purpose (94%), and reported an interest in (96%) and ability to (98%) act on the results if applicable. Our study shows the role of the PREMM as a feasible tool for identifying individuals at risk of carrying mutations associated with LS in this low-resource setting. By implementing the PREMM model, high risk individuals can be identified early, enabling timely interventions and improving outcomes in this at-risk population.

摘要

虽然建议在所有新发结直肠癌(CRC)和子宫内膜癌(EC)的诊断中进行林奇综合征(LS)的普遍肿瘤检测,但在资源有限的环境中,这种检测的成本和可用性存在挑战。预测基因突变模型(PREMM)是一种临床算法,旨在评估个体携带 LS 突变的风险。本研究旨在评估在危地马拉使用 PREMM 筛查 LS 风险的可行性。这项横断面试点研究纳入了 2022 年 6 月至 7 月期间在危地马拉城 LIGA-INCAN 癌症医院接受治疗的 50 名结直肠癌或子宫内膜癌患者。通过电话联系患者并进行 PREMM 调查,然后进行额外的可行性问卷。在 50 名参与者中,62%的患者有 PREMM 预测概率≥2.5%,这是推荐进行基因检测的阈值。几乎所有患者都发现调查很容易完成(98%),能够轻松回忆个人(90%)和家族(88%)病史,理解其目的(94%),并报告有兴趣(96%)和能够(98%)在适用时对结果采取行动。我们的研究表明,PREMM 作为一种在这种资源有限的环境中识别携带 LS 相关突变风险个体的可行工具的作用。通过实施 PREMM 模型,可以早期识别高风险个体,从而为该高危人群及时干预和改善预后。

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