• 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

乳腺癌女性中胚系致病性 BRCA 变异的前驱症状意识及相关结局。

Presymptomatic Awareness of Germline Pathogenic BRCA Variants and Associated Outcomes in Women With Breast Cancer.

机构信息

Breast Surgery Unit, Department of Surgery, Shaare Zedek Medical Center, Jerusalem, Israel.

Department of Obstetrics & Gynecology, Shaare Zedek Medical Center, Jerusalem, Israel.

出版信息

JAMA Oncol. 2020 Sep 1;6(9):1460-1463. doi: 10.1001/jamaoncol.2020.2059.

DOI:10.1001/jamaoncol.2020.2059
PMID:32644100
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7349080/
Abstract

This retrospective cohort study of women with breast cancer evaluates the association of presymptomatic awareness of germline pathogenic variants and treatment outcomes.

摘要

本研究回顾性地纳入了患有乳腺癌的女性患者，旨在评估种系致病性变异的症状前知晓与治疗结局之间的相关性。

相似文献

1
Presymptomatic Awareness of Germline Pathogenic BRCA Variants and Associated Outcomes in Women With Breast Cancer.乳腺癌女性中胚系致病性 BRCA 变异的前驱症状意识及相关结局。
JAMA Oncol. 2020 Sep 1;6(9):1460-1463. doi: 10.1001/jamaoncol.2020.2059.
2
High prevalence of deleterious BRCA1 and BRCA2 germline mutations in arab breast and ovarian cancer patients.在阿拉伯裔乳腺癌和卵巢癌患者中，BRCA1 和 BRCA2 种系突变的高发率。
Breast Cancer Res Treat. 2018 Apr;168(3):695-702. doi: 10.1007/s10549-017-4635-4. Epub 2018 Jan 2.
3
Clinicopathologic features and genetic characteristics of the BRCA1/2 mutation in Turkish breast cancer patients.土耳其乳腺癌患者BRCA1/2突变的临床病理特征及遗传特性
Cancer Genet. 2020 Jan;240:23-32. doi: 10.1016/j.cancergen.2019.10.004. Epub 2019 Oct 16.
4
CCND1 and ZNF217 gene amplification is equally frequent in BRCA1 and BRCA2 associated and non-BRCA breast cancer.CCND1 和 ZNF217 基因扩增在 BRCA1 和 BRCA2 相关和非 BRCA 乳腺癌中同样常见。
Neoplasma. 2010;57(4):325-32. doi: 10.4149/neo_2010_04_325.
5
Genetic testing in Poland and Ukraine: should comprehensive germline testing of and be recommended for women with breast and ovarian cancer?波兰和乌克兰的基因检测：是否应推荐对乳腺癌和卵巢癌女性进行全面胚系检测？
Genet Res (Camb). 2020 Aug 10;102:e6. doi: 10.1017/S0016672320000075.
6
Germ-line mutations in BRCA1 or BRCA2 in the normal breast are associated with altered expression of estrogen-responsive proteins and the predominance of progesterone receptor A.正常乳腺中BRCA1或BRCA2的种系突变与雌激素反应蛋白表达改变及孕激素受体A占优势有关。
Genes Chromosomes Cancer. 2004 Mar;39(3):236-48. doi: 10.1002/gcc.10321.
7
Novel candidates of pathogenic variants of the BRCA1 and BRCA2 genes from a dataset of 3,552 Japanese whole genomes (3.5KJPNv2).从 3552 个日本人全基因组数据集（3.5KJPNv2）中发现 BRCA1 和 BRCA2 基因的致病性变异新型候选基因。
PLoS One. 2021 Jan 11;16(1):e0236907. doi: 10.1371/journal.pone.0236907. eCollection 2021.
8
Effect of Oophorectomy on Survival After Breast Cancer in BRCA1 and BRCA2 Mutation Carriers.BRCA1 和 BRCA2 基因突变携带者乳腺癌术后卵巢切除术对生存的影响。
JAMA Oncol. 2015 Jun;1(3):306-13. doi: 10.1001/jamaoncol.2015.0658.
9
Germline and testing for breast cancer survivors.胚系基因检测与乳腺癌幸存者。
J Med Genet. 2020 Aug;57(8):528-530. doi: 10.1136/jmedgenet-2019-106420. Epub 2019 Sep 11.
10
Frequency of mutations in BRCA genes and other candidate genes in high-risk probands or probands with breast or ovarian cancer in the Czech Republic.在捷克共和国，高危先证者或有乳腺癌或卵巢癌先证者的 BRCA 基因和其他候选基因的突变频率。
Mol Biol Rep. 2020 Apr;47(4):2763-2769. doi: 10.1007/s11033-020-05378-7. Epub 2020 Mar 16.

引用本文的文献

1
Chemotherapy receipt in affected BRCA1/2 and PALB2 carriers with operable breast cancer: the impact of early detection and pre-diagnostic awareness on clinical outcomes and treatment.患有可手术乳腺癌的BRCA1/2和PALB2基因携带者接受化疗的情况：早期检测和诊断前知晓对临床结局及治疗的影响
Hered Cancer Clin Pract. 2025 Apr 24;23(1):14. doi: 10.1186/s13053-025-00314-x.
2
Presymptomatic Awareness of BRCA1/BRCA2 Status and Outcomes in Women With Ovarian Cancer.卵巢癌女性患者对BRCA1/BRCA2状态及预后的症状前认知
JAMA Netw Open. 2025 Mar 3;8(3):e251435. doi: 10.1001/jamanetworkopen.2025.1435.
3
Clinical Behavior of Breast Cancer in Young Carriers and Prediagnostic Awareness of Germline Status.年轻携带者乳腺癌的临床行为及种系状态的诊断前知晓情况
J Clin Oncol. 2025 May 10;43(14):1706-1719. doi: 10.1200/JCO-24-01334. Epub 2025 Feb 24.
4
Breast Cancer MRI Screening of Patients After Multiplex Gene Panel Testing.多重基因检测后患者的乳腺癌MRI筛查
JAMA Netw Open. 2025 Jan 2;8(1):e2454447. doi: 10.1001/jamanetworkopen.2024.54447.
5
Commentary: Why is genetic testing underutilized worldwide? The case for hereditary breast cancer.评论：为何基因检测在全球范围内未得到充分利用？以遗传性乳腺癌为例。
BJC Rep. 2024 Oct 1;2(1):73. doi: 10.1038/s44276-024-00099-x.
6
The impact of germline BRCA pathogenic variants in locally advanced, triple negative breast cancer treated with platinum-based neoadjuvant chemotherapy.胚系 BRCA 致病性变异对接受铂类新辅助化疗的局部晚期三阴性乳腺癌的影响。
Breast Cancer Res Treat. 2024 Jun;205(2):241-248. doi: 10.1007/s10549-024-07247-4. Epub 2024 Feb 12.
7
The Future of Breast Cancer Research in the Survivorship Field.乳腺癌幸存者领域的研究未来。
Oncol Ther. 2023 Jun;11(2):199-229. doi: 10.1007/s40487-023-00225-8. Epub 2023 Apr 1.
8
Assessment of a Peer Physician Coaching Partnership Between a Designated Cancer Center Genetics Service and a Community Cancer Network Hospital.评估指定癌症中心遗传学服务与社区癌症网络医院之间的医师同行指导伙伴关系。
JAMA Netw Open. 2023 Mar 1;6(3):e231723. doi: 10.1001/jamanetworkopen.2023.1723.
9
Prostate cancer risk, screening and management in patients with germline BRCA1/2 mutations.携带种系BRCA1/2突变患者的前列腺癌风险、筛查与管理
Nat Rev Urol. 2023 Apr;20(4):205-216. doi: 10.1038/s41585-022-00680-4. Epub 2023 Jan 4.
10
Real World Cost-Effectiveness Analysis of Population Screening for BRCA Variants among Ashkenazi Jews Compared with Family History-Based Strategies.与基于家族史的策略相比，阿什肯纳兹犹太人中BRCA基因变异人群筛查的真实世界成本效益分析。
Cancers (Basel). 2022 Dec 12;14(24):6113. doi: 10.3390/cancers14246113.

本文引用的文献

1
NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 1.2020.NCCN 指南解读：遗传/家族性高风险评估：乳腺、卵巢和胰腺，第 1.2020 版。
J Natl Compr Canc Netw. 2020 Apr;18(4):380-391. doi: 10.6004/jnccn.2020.0017.
2
Broadening Criteria for BRCA1/2 Evaluation: Placing the USPSTF Recommendation in Context.扩大BRCA1/2评估标准：解读美国预防医学工作组的建议
JAMA. 2019 Aug 20;322(7):619-621. doi: 10.1001/jama.2019.9688.
3
Survival after bilateral risk-reducing mastectomy in healthy BRCA1 and BRCA2 mutation carriers.BRCA1 和 BRCA2 基因突变携带者行双侧降低风险乳房切除术的生存情况。
Breast Cancer Res Treat. 2019 Oct;177(3):723-733. doi: 10.1007/s10549-019-05345-2. Epub 2019 Jul 13.
4
International trends in the uptake of cancer risk reduction strategies in women with a BRCA1 or BRCA2 mutation.具有 BRCA1 或 BRCA2 突变的女性中采用癌症风险降低策略的国际趋势。
Br J Cancer. 2019 Jul;121(1):15-21. doi: 10.1038/s41416-019-0446-1. Epub 2019 Apr 11.
5
Risk-reducing salpingo-oophorectomy: a meta-analysis on impact on ovarian cancer risk and all cause mortality in BRCA 1 and BRCA 2 mutation carriers.降低风险的输卵管卵巢切除术：对BRCA 1和BRCA 2突变携带者卵巢癌风险及全因死亡率影响的荟萃分析
BMC Womens Health. 2014 Dec 12;14:150. doi: 10.1186/s12905-014-0150-5.
6
Population-based screening for breast and ovarian cancer risk due to BRCA1 and BRCA2.基于人群的BRCA1和BRCA2相关乳腺癌和卵巢癌风险筛查。
Proc Natl Acad Sci U S A. 2014 Sep 30;111(39):14205-10. doi: 10.1073/pnas.1415979111. Epub 2014 Sep 5.