Suppr超能文献

用于胰腺癌干预的遗传教育和检测的新型模型:来自 GENERATE 研究的初步结果。

Novel Models of Genetic Education and Testing for Pancreatic Cancer Interception: Preliminary Results from the GENERATE Study.

机构信息

Dana-Farber Cancer Institute, Boston, Massachusetts.

Harvard Medical School, Boston, Massachusetts.

出版信息

Cancer Prev Res (Phila). 2021 Nov;14(11):1021-1032. doi: 10.1158/1940-6207.CAPR-20-0642. Epub 2021 Oct 8.

Abstract

Up to 10% of patients with pancreatic ductal adenocarcinoma (PDAC) carry underlying germline pathogenic variants in cancer susceptibility genes. The GENetic Education Risk Assessment and TEsting (GENERATE) study aimed to evaluate novel methods of genetic education and testing in relatives of patients with PDAC. Eligible individuals had a family history of PDAC and a relative with a germline pathogenic variant in , or genes. Participants were recruited at six academic cancer centers and through social media campaigns and patient advocacy efforts. Enrollment occurred via the study website (https://GENERATEstudy.org) and all participation, including collecting a saliva sample for genetic testing, could be done from home. Participants were randomized to one of two remote methods that delivered genetic education about the risks of inherited PDAC and strategies for surveillance. The primary outcome of the study was uptake of genetic testing. From 5/8/2019 to 5/6/2020, 49 participants were randomized to each of the intervention arms. Overall, 90 of 98 (92%) of randomized participants completed genetic testing. The most frequently detected pathogenic variants included those in ( = 15, 17%), ( = 11, 12%), and ( = 4, 4%). Participation in the study remained steady throughout the onset of the Coronavirus disease (COVID-19) pandemic. Preliminary data from the GENERATE study indicate success of remote alternatives to traditional cascade testing, with genetic testing rates over 90% and a high rate of identification of germline pathogenic variant carriers who would be ideal candidates for PDAC interception approaches. PREVENTION RELEVANCE: Preliminary data from the GENERATE study indicate success of remote alternatives for pancreatic cancer genetic testing and education, with genetic testing uptake rates over 90% and a high rate of identification of germline pathogenic variant carriers who would be ideal candidates for pancreatic cancer interception.

摘要

高达 10%的胰腺导管腺癌 (PDAC) 患者携带潜在的种系致病性变体癌症易感性基因。GENetic Education Risk Assessment and TEsting (GENERATE) 研究旨在评估 PDAC 患者亲属中遗传教育和检测的新方法。合格的个体有 PDAC 的家族史,并且有亲属在 或 基因中携带种系致病性变体。参与者在六个学术癌症中心招募,并通过社交媒体活动和患者倡导努力招募。通过研究网站 (https://GENERATEstudy.org) 招募参与者进行登记,所有参与,包括收集用于基因检测的唾液样本,都可以在家中进行。参与者被随机分配到两种远程方法中的一种,这两种方法提供了关于遗传性 PDAC 风险和监测策略的遗传教育。该研究的主要结局是基因检测的采用。从 2019 年 5 月 8 日至 2020 年 5 月 6 日,有 49 名参与者被随机分配到每个干预组。总的来说,98 名随机参与者中有 90 名 (92%)完成了基因检测。最常检测到的致病性变体包括 中的变体 ( = 15, 17%)、 中的变体 ( = 11, 12%)和 中的变体 ( = 4, 4%)。尽管在冠状病毒病 (COVID-19) 大流行期间,研究仍持续稳定地进行。GENERATE 研究的初步数据表明,传统级联检测的远程替代方案取得了成功,基因检测率超过 90%,并且很高比例的种系致病性变体携带者被确定为 PDAC 截获方法的理想候选者。预防相关性:GENERATE 研究的初步数据表明,用于胰腺癌基因检测和教育的远程替代方案取得了成功,基因检测采用率超过 90%,并且很高比例的种系致病性变体携带者被确定为胰腺癌截获的理想候选者。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce28/8563400/63bfef4c7a58/nihms-1731488-f0001.jpg

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验