• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

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

相似文献

1
The Ethics of Genetic Testing for Inherited Cancer-Predisposing Genes.遗传性癌症易感基因检测的伦理学问题
J Adv Pract Oncol. 2024 Mar;15(2):137-140. doi: 10.6004/jadpro.2024.15.2.6. Epub 2024 Mar 1.
2
Germline testing of , , and c.1100delC in 1514 triple negative familial and isolated breast cancers from a single centre, with extended testing of , and in over 400.在一个中心对 1514 例三阴性家族性和散发性乳腺癌进行 、 、 和 c.1100delC 的种系检测,并对 400 多例以上的 、 、 进行了扩展检测。
J Med Genet. 2024 Mar 21;61(4):385-391. doi: 10.1136/jmg-2023-109671.
3
Molecular characteristics of breast tumors in patients screened for germline predisposition from a population-based observational study.基于人群观察性研究中对种系易感性进行筛查的患者的乳腺肿瘤的分子特征。
Genome Med. 2023 Apr 14;15(1):25. doi: 10.1186/s13073-023-01177-4.
4
Comparison of Universal Genetic Testing vs Guideline-Directed Targeted Testing for Patients With Hereditary Cancer Syndrome.遗传性癌症综合征患者的通用基因检测与指南指导的靶向检测比较。
JAMA Oncol. 2021 Feb 1;7(2):230-237. doi: 10.1001/jamaoncol.2020.6252.
5
Prevalence and clinical implications of germline mutations among Jordanian patients with ovarian cancer. The Jordanian exploratory cancer genetics (Jo-ECAG) ovarian study.约旦卵巢癌患者种系突变的流行情况及其临床意义。约旦探索性癌症遗传学(Jo-ECAG)卵巢研究。
Mol Genet Genomic Med. 2023 Apr;11(4):e2125. doi: 10.1002/mgg3.2125. Epub 2022 Dec 19.
6
Unexpected actionable genetic variants revealed by multigene panel testing of patients with uterine cancer.多基因panel 检测子宫癌患者发现的意外可操作遗传变异。
Gynecol Oncol. 2022 Aug;166(2):344-350. doi: 10.1016/j.ygyno.2022.05.023. Epub 2022 Jun 9.
7
Germline Testing of Patients With Non-small Cell Lung Cancers Demonstrating Incidentally Uncovered BRCA2 Apparent Pathogenic Germline Variants.非小细胞肺癌患者的种系检测显示偶然发现的 BRCA2 明显种系变异体。
Clin Lung Cancer. 2022 Nov;23(7):e405-e407. doi: 10.1016/j.cllc.2022.07.011. Epub 2022 Jul 21.
8
Risk of Syndrome-Associated Cancers Among First-Degree Relatives of Patients With Pancreatic Ductal Adenocarcinoma With Pathogenic or Likely Pathogenic Germline Variants.胰腺导管腺癌患者携带致病性或疑似致病性种系变异的一级亲属患综合征相关癌症的风险。
JAMA Oncol. 2023 Jul 1;9(7):955-961. doi: 10.1001/jamaoncol.2023.0806.
9
Performance of clinical risk scores and prediction models to identify pathogenic germline variants in patients with advanced prostate cancer.临床风险评分和预测模型在识别晚期前列腺癌患者致病性种系变异中的性能。
World J Urol. 2023 Aug;41(8):2091-2097. doi: 10.1007/s00345-023-04535-4. Epub 2023 Aug 1.
10
Prevalence and spectrum of cancer predisposition germline mutations in young patients with the common late-onset cancers.常见晚发性癌症的年轻患者中癌症易感性种系突变的流行率和谱。
Cancer Med. 2023 Sep;12(17):18394-18404. doi: 10.1002/cam4.6445. Epub 2023 Aug 23.

本文引用的文献

1
Universal Germline and Tumor Genomic Testing Needed to Win the War Against Cancer: .战胜癌症需要进行全面的生殖系和肿瘤基因组检测:
J Clin Oncol. 2023 Jun 10;41(17):3100-3103. doi: 10.1200/JCO.22.02833. Epub 2023 Mar 17.
2
Cancer Moonshot 2.0, health equity and BRCA1/2 testing.癌症“登月计划”2.0、健康公平与BRCA1/2检测
J Cancer Policy. 2023 Mar;35:100379. doi: 10.1016/j.jcpo.2022.100379. Epub 2022 Dec 9.
3
Universal Germline Genetic Testing for Hereditary Cancer Syndromes in Patients With Solid Tumor Cancer.实体肿瘤癌症患者遗传性癌症综合征的通用种系基因检测
JCO Precis Oncol. 2022 Sep;6:e2100516. doi: 10.1200/PO.21.00516.
4
Ethical Considerations in Precision Medicine and Genetic Testing in Internal Medicine Practice: A Position Paper From the American College of Physicians.精准医学和内科实践中的遗传检测中的伦理考量:美国医师学院的立场文件。
Ann Intern Med. 2022 Sep;175(9):1322-1323. doi: 10.7326/M22-0743. Epub 2022 Jul 26.
5
Point/Counterpoint: Is It Time for Universal Germline Genetic Testing for All GI Cancers?观点对垒:所有胃肠道癌症是否都需要进行普遍的种系基因检测?
J Clin Oncol. 2022 Aug 20;40(24):2681-2692. doi: 10.1200/JCO.21.02764. Epub 2022 Jun 1.
6
The Challenge of Genetic Variants of Uncertain Clinical Significance : A Narrative Review.《不确定临床意义的遗传变异的挑战:叙事性综述》。
Ann Intern Med. 2022 Jul;175(7):994-1000. doi: 10.7326/M21-4109. Epub 2022 Apr 19.
7
Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology.遗传/家族性高风险评估:乳腺癌、卵巢癌和胰腺癌,第 2.2021 版,NCCN 肿瘤学临床实践指南。
J Natl Compr Canc Netw. 2021 Jan 6;19(1):77-102. doi: 10.6004/jnccn.2021.0001.
8
Ethics of clinical trials from a bayesian and decision analytic perspective: whose equipoise is it anyway?从贝叶斯和决策分析角度看临床试验伦理:究竟是谁的 equipoise?
BMJ. 2003 May 3;326(7396):980-1. doi: 10.1136/bmj.326.7396.980.
9
"Genetic exceptionalism" in medicine: clarifying the differences between genetic and nongenetic tests.医学中的“基因例外论”:厘清基因检测与非基因检测之间的差异
Ann Intern Med. 2003 Apr 1;138(7):571-5. doi: 10.7326/0003-4819-138-7-200304010-00013.

遗传性癌症易感基因检测的伦理学问题

The Ethics of Genetic Testing for Inherited Cancer-Predisposing Genes.

作者信息

Sorscher Steven, Detroye Alisha T

机构信息

From Biotheranostics, Inc./A Hologic Company, San Diego, California.

Atrium Health Wake Forest Baptist, Wake Forest University School of Medicine, Winston-Salem, North Carolina.

出版信息

J Adv Pract Oncol. 2024 Mar;15(2):137-140. doi: 10.6004/jadpro.2024.15.2.6. Epub 2024 Mar 1.

DOI:10.6004/jadpro.2024.15.2.6
PMID:39132550
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11308536/
Abstract

Once an individual has been identified as a carrier of an inherited cancer-predisposing gene or pathogenic germline variant (PGV), there are measures that have been proven to prevent and diagnose the associated cancers at an earlier, more curable stage. Consequently, patients who are offered and undergo testing are afforded opportunities and health-care information that profoundly affect their lives and the lives of their family members who choose to be tested as well. For years, the debate over the controversial topic of whether all patients should be offered germline testing for cancer-predisposing PGVs centered around questions of the analytical sensitivity of the assays (i.e., the ability of the test to correctly identify those who carry a PGV), legal implications for those identified as PGV carriers, cost to the health-care system, and the uncertain management implications of test results. Currently, the standard of care is to offer testing to individuals where the anticipated benefits of testing outweigh the harms. Here, the ethical question of whether all patients have the right to testing for PGVs is considered.

摘要

一旦个体被确定为遗传性癌症易感基因或致病性种系变异(PGV)的携带者,就有一些措施已被证明可以在更早、更可治愈的阶段预防和诊断相关癌症。因此,接受检测的患者会获得对其生活以及选择接受检测的家庭成员的生活产生深远影响的机会和医疗保健信息。多年来,关于是否应为所有患者提供癌症易感PGV的种系检测这一争议性话题的辩论,主要围绕检测方法的分析敏感性问题(即检测正确识别携带PGV者的能力)、被确定为PGV携带者的法律影响、医疗保健系统的成本以及检测结果不确定的管理影响。目前,护理标准是向检测预期益处超过危害的个体提供检测。在此,考虑了所有患者是否有权进行PGV检测这一伦理问题。