• 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

BRCA1/2 基因突变的术前诊断影响乳腺癌患者行预防性乳房切除术的决策。

Preoperative diagnosis of BRCA1/2 mutation impacts decision-making for risk-reducing mastectomy in breast cancer patients.

机构信息

Division of Breast Surgery, Department of Surgery, Samsung Medical Center Cancer Hospital, Sungkyunkwan University School of Medicine, 5th Floor Breast-Endocrine, 81 Irwon-ro, Gangnam-gu, Seoul, 06351, South Korea.

Department of Surgery, Sanggye Paik Hospital, Inje University College of Medicine, Seoul, South Korea.

出版信息

Sci Rep. 2021 Jul 20;11(1):14747. doi: 10.1038/s41598-021-94195-4.

DOI:10.1038/s41598-021-94195-4
PMID:34285295
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8292311/
Abstract

Decision to undergo risk-reducing mastectomy (RRM) needs to consider several factors, including patient's preference, surgeon's preference, family history, and genetic predisposition. The aim of this study was to examine whether preoperative diagnosis of BRCA1/2 mutation status could influence surgical decision-making in newly diagnosed breast cancer patients. We retrospectively reviewed ipsilateral breast cancer patients with BRCA1/2 mutation who underwent primary surgery between January 2008 and November 2019 at a single institution in Korea. Of 344 eligible patients, 140 (40.7%) patients were aware of their mutation status 'prior to surgery', while 204 (59.3%) did not. Contralateral RRM rate was significantly higher in the group with BRCA1/2 mutation status identified 'prior to surgery' compared to the group with mutation status identified 'after surgery' [45.0% (63/140) vs. 2.0% (4/204)] (p < 0.001). Reduced turnaround time of BRCA1/2 testing (p < 0.001) and the use of neoadjuvant chemotherapy (p < 0.001) were associated with BRCA1/2 mutation status identified prior to surgery. Although not statistically significant, higher incidence of developing contralateral breast cancer for BRCA1/2 mutation carriers who underwent ipsilateral surgery-only compared to those who underwent contralateral RRM was observed [12.1% (95% CI: 7.7-17.7%)] (p = 0.1618). Preoperative diagnosis of BRCA1/2 mutation could impact surgical decision-making for breast cancer patients to undergo risk-reducing surgery at the time of initial surgery.

摘要

接受降低风险的乳房切除术(RRM)的决定需要考虑几个因素,包括患者的偏好、外科医生的偏好、家族史和遗传倾向。本研究的目的是检验术前诊断 BRCA1/2 突变状态是否会影响新诊断乳腺癌患者的手术决策。我们回顾性分析了韩国一家机构在 2008 年 1 月至 2019 年 11 月期间接受原发性手术的 BRCA1/2 突变的同侧乳腺癌患者。在 344 名符合条件的患者中,140 名(40.7%)患者在术前“知晓”其突变状态,而 204 名(59.3%)患者在术前“不知晓”其突变状态。在术前“知晓”BRCA1/2 突变状态的患者中,行对侧 RRM 的比例明显高于术后“知晓”BRCA1/2 突变状态的患者[45.0%(63/140)比 2.0%(4/204)](p<0.001)。BRCA1/2 检测的周转时间缩短(p<0.001)和新辅助化疗的使用(p<0.001)与术前“知晓”BRCA1/2 突变状态有关。尽管没有统计学意义,但与接受对侧 RRM 的患者相比,仅接受同侧手术的 BRCA1/2 突变携带者发生对侧乳腺癌的发生率更高[12.1%(95%CI:7.7-17.7%)](p=0.1618)。BRCA1/2 突变的术前诊断可能会影响乳腺癌患者在初始手术时进行降低风险手术的决策。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f9fc/8292311/bafcbcbc9038/41598_2021_94195_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f9fc/8292311/f3895ddeaa46/41598_2021_94195_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f9fc/8292311/54260be681bf/41598_2021_94195_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f9fc/8292311/bafcbcbc9038/41598_2021_94195_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f9fc/8292311/f3895ddeaa46/41598_2021_94195_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f9fc/8292311/54260be681bf/41598_2021_94195_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f9fc/8292311/bafcbcbc9038/41598_2021_94195_Fig3_HTML.jpg

相似文献

1
Preoperative diagnosis of BRCA1/2 mutation impacts decision-making for risk-reducing mastectomy in breast cancer patients.BRCA1/2 基因突变的术前诊断影响乳腺癌患者行预防性乳房切除术的决策。
Sci Rep. 2021 Jul 20;11(1):14747. doi: 10.1038/s41598-021-94195-4.
2
Timing of genetic testing in BRCA1/2 and PALB2-Associated breast cancer: Preoperative result disclosure increases uptake of risk-reducing mastectomy and reduces unnecessary exposure to radiotherapy.BRCA1/2 和 PALB2 相关乳腺癌基因检测时机:术前检测结果披露可增加预防性乳房切除术的接受率,减少不必要的放射治疗暴露。
Eur J Surg Oncol. 2024 Jun;50(6):108324. doi: 10.1016/j.ejso.2024.108324. Epub 2024 Apr 12.
3
Post-mastectomy surveillance of BRCA1/BRCA2 mutation carriers: Outcomes from a specialized clinic for high-risk breast cancer patients.BRCA1/BRCA2 基因突变携带者乳房切除术后监测:高危乳腺癌患者专科门诊的结果。
Breast J. 2021 May;27(5):441-447. doi: 10.1111/tbj.14190. Epub 2021 Feb 11.
4
BRCA1/2 mutation carriers & risk reducing mastectomy: Who undergoes surgery and potential benefits.BRCA1/2基因变异携带者与降低风险的乳房切除术:谁会接受手术及潜在益处。
Am J Surg. 2024 Jan;227:146-152. doi: 10.1016/j.amjsurg.2023.10.011. Epub 2023 Oct 5.
5
Association between clinical characteristics and risk-reduction interventions in women who underwent BRCA1 and BRCA2 testing: a single-institution study.接受BRCA1和BRCA2检测的女性临床特征与风险降低干预措施之间的关联:一项单机构研究。
Cancer. 2006 Dec 15;107(12):2745-51. doi: 10.1002/cncr.22352.
6
Cost Effectiveness of Risk-Reducing Mastectomy versus Surveillance in BRCA Mutation Carriers with a History of Ovarian Cancer.BRCA 基因突变携带者伴卵巢癌病史行预防性乳房切除术与监测的成本效果比较。
Ann Surg Oncol. 2017 Oct;24(11):3116-3123. doi: 10.1245/s10434-017-5995-z. Epub 2017 Jul 11.
7
Comparing Coordinated Versus Sequential Salpingo-Oophorectomy for BRCA1 and BRCA2 Mutation Carriers With Breast Cancer.比较BRCA1和BRCA2基因突变携带者乳腺癌患者行同步与序贯输卵管卵巢切除术的情况。
Clin Breast Cancer. 2016 Dec;16(6):494-499. doi: 10.1016/j.clbc.2016.06.016. Epub 2016 Jul 5.
8
Adjuvant radiotherapy for primary breast cancer in BRCA1 and BRCA2 mutation carriers and risk of contralateral breast cancer with special attention to patients irradiated at younger age.BRCA1和BRCA2基因突变携带者原发性乳腺癌的辅助放疗及对侧乳腺癌风险,特别关注年轻患者的放疗情况。
Breast Cancer Res Treat. 2015 Nov;154(1):171-80. doi: 10.1007/s10549-015-3597-7.
9
Cost-effectiveness of surveillance and prevention strategies in BRCA1/2 mutation carriers.BRCA1/2 基因突变携带者的监测和预防策略的成本效益分析。
Breast Cancer. 2018 Mar;25(2):141-150. doi: 10.1007/s12282-017-0803-y. Epub 2017 Oct 10.
10
Pathologic characteristics of breast parenchyma in patients with hereditary breast carcinoma, including BRCA1 and BRCA2 mutation carriers.遗传性乳腺癌患者乳腺实质的病理特征,包括BRCA1和BRCA2突变携带者。
Cancer. 2003 Jan 1;97(1):1-11. doi: 10.1002/cncr.11048.

引用本文的文献

1
The Incidence of Occult Malignancy in Contralateral Risk Reducing Mastectomy Among Affected Breast Cancer Gene Mutation Carriers in South Korea.韩国乳腺癌基因突变携带者对侧预防性乳房切除术中隐匿性恶性肿瘤的发生率
J Breast Cancer. 2025 Feb;28(1):1-10. doi: 10.4048/jbc.2024.0219.
2
BRCA Testing for Patients Treated in Italy: A National Survey of Breast Centers Associated with Senonetwork.意大利治疗患者的 BRCA 检测:与 Senonetwork 相关的乳腺中心的全国性调查。
Curr Oncol. 2024 Jun 30;31(7):3815-3825. doi: 10.3390/curroncol31070282.
3
The Effects of National Insurance Coverage Expansion and Genetic Counseling's Role on Mutation Tests in Breast Cancer Patients.

本文引用的文献

1
Contralateral prophylactic mastectomy in breast cancer: what to discuss with patients.乳腺癌的对侧预防性乳房切除术:与患者讨论的内容。
Expert Rev Anticancer Ther. 2020 Mar;20(3):159-166. doi: 10.1080/14737140.2020.1732213. Epub 2020 Feb 28.
2
Prognosis of BRCA1/2-negative breast cancer patients with HBOC risk factors compared with sporadic breast cancer patients without HBOC risk factors.BRCA1/2 阴性乳腺癌患者伴 HBOC 风险因素与不伴 HBOC 风险因素散发性乳腺癌患者的预后比较。
Jpn J Clin Oncol. 2020 Feb 17;50(2):104-113. doi: 10.1093/jjco/hyz147.
3
Risk-reducing mastectomy in BRCA carriers: survival is not the issue.
国家保险覆盖范围扩大及遗传咨询在乳腺癌患者突变检测中的作用
Cancers (Basel). 2024 May 14;16(10):1865. doi: 10.3390/cancers16101865.
4
Long-term oncologic outcomes of unselected triple-negative breast cancer patients according to BRCA1/2 mutations.根据BRCA1/2突变情况,未筛选的三阴性乳腺癌患者的长期肿瘤学结局
NPJ Precis Oncol. 2024 Apr 30;8(1):96. doi: 10.1038/s41698-024-00559-0.
携带BRCA基因者的预防性乳房切除术:生存并非问题所在。
Breast Cancer Res Treat. 2020 Jan;179(1):251-252. doi: 10.1007/s10549-019-05440-4. Epub 2019 Sep 20.
4
Risk-reducing mastectomy rates in the US: a closer examination of the Angelina Jolie effect.美国降低风险的乳房切除术率:对安吉丽娜·朱莉效应的更深入研究。
Breast Cancer Res Treat. 2018 Sep;171(2):435-442. doi: 10.1007/s10549-018-4824-9. Epub 2018 May 28.
5
Risk-reducing mastectomy for the prevention of primary breast cancer.预防性乳房切除术以预防原发性乳腺癌。
Cochrane Database Syst Rev. 2018 Apr 5;4(4):CD002748. doi: 10.1002/14651858.CD002748.pub4.
6
Randomized trial of proactive rapid genetic counseling versus usual care for newly diagnosed breast cancer patients.随机试验:主动式快速基因咨询与新诊断乳腺癌患者常规护理的比较。
Breast Cancer Res Treat. 2018 Aug;170(3):517-524. doi: 10.1007/s10549-018-4773-3. Epub 2018 Apr 2.
7
Evaluation of a Streamlined Oncologist-Led BRCA Mutation Testing and Counseling Model for Patients With Ovarian Cancer.简化的肿瘤专家主导的 BRCA 基因突变检测和咨询模型在卵巢癌患者中的评估。
J Clin Oncol. 2018 May 1;36(13):1300-1307. doi: 10.1200/JCO.2017.76.2781. Epub 2018 Mar 20.
8
Genetic Diagnosis before Surgery has an Impact on Surgical Decision in BRCA Mutation Carriers with Breast Cancer.术前基因诊断对携带BRCA突变的乳腺癌患者的手术决策有影响。
World J Surg. 2018 May;42(5):1384-1390. doi: 10.1007/s00268-017-4342-7.
9
Preoperative genetic testing impacts surgical decision making in BRCA mutation carriers with breast cancer: a retrospective cohort analysis.术前基因检测对携带BRCA突变的乳腺癌患者手术决策的影响:一项回顾性队列分析
Hered Cancer Clin Pract. 2017 Jul 26;15:11. doi: 10.1186/s13053-017-0071-z. eCollection 2017.
10
Influence of the Angelina Jolie Announcement and Insurance Reimbursement on Practice Patterns for Hereditary Breast Cancer.安吉丽娜·朱莉的声明及保险赔付对遗传性乳腺癌诊疗模式的影响
J Breast Cancer. 2017 Jun;20(2):203-207. doi: 10.4048/jbc.2017.20.2.203. Epub 2017 Jun 26.