• 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

BRCA突变与多原发性恶性肿瘤:一例罕见的复发性三阴性乳腺癌和宫颈癌病例

BRCA mutation and multiple primary malignancies: a rare case of recurring triple-negative breast cancer and cervical cancer.

作者信息

Naciri Meryem, Aouzah Fatima Ezzahra, El Ghanmi Adil, Ghazi Bouchra, Fichtali Karima, Mohammed Sqalli Houssaini, Kouhen Fadila

机构信息

Mohammed VI Faculty of Medicine, Mohammed VI University of Sciences and Health (UM6SS), Rabat 10100, Morocco.

Mohammed VI Faculty of Medicine, Mohammed VI University of Sciences and Health (UM6SS), Casablanca 20230, Morocco.

出版信息

Ecancermedicalscience. 2025 Jul 2;19:1939. doi: 10.3332/ecancer.2025.1939. eCollection 2025.

DOI:10.3332/ecancer.2025.1939
PMID:40949480
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12426494/
Abstract

Mutations in the BRCA1 and BRCA2 genes significantly increase the risk of hereditary cancers, mainly of the breast and ovary, but also of other cancers such as those of the pancreas, prostate and cervix. In carriers of these mutations, multiple primary malignancies (MPM) represent a complex clinical challenge, influenced by genetic and environmental factors, as well as previous cancer treatments. The case reports a patient with a BRCA1 mutation with a family history of breast and ovarian cancer and who developed cervical cancer then recurrent triple-negative breast cancer treated with mastectomy, radiotherapy, chemotherapy and Poly (Adenosine diphosohate-ribose) polymérase inhibitors. This case underlines the interplay between different malignancies in the context of breast cancer mutations and the importance of specific and personalised treatment of patients with multiple primary malignancies.

摘要

BRCA1和BRCA2基因的突变显著增加遗传性癌症的风险,主要是乳腺癌和卵巢癌,也包括其他癌症,如胰腺癌、前列腺癌和宫颈癌。在这些突变携带者中,多发性原发性恶性肿瘤(MPM)是一个复杂的临床挑战,受到遗传和环境因素以及既往癌症治疗的影响。该病例报告了一名携带BRCA1突变且有乳腺癌和卵巢癌家族史的患者,其患宫颈癌后又复发三阴性乳腺癌,接受了乳房切除术、放疗、化疗和聚(二磷酸腺苷核糖)聚合酶抑制剂治疗。该病例强调了在乳腺癌突变背景下不同恶性肿瘤之间的相互作用,以及对多发性原发性恶性肿瘤患者进行特异性和个性化治疗的重要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/deff/12426494/290e61a2f26d/can-19-1939fig4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/deff/12426494/cce83e66ff29/can-19-1939fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/deff/12426494/7d5577a00608/can-19-1939fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/deff/12426494/c385c25709bf/can-19-1939fig3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/deff/12426494/290e61a2f26d/can-19-1939fig4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/deff/12426494/cce83e66ff29/can-19-1939fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/deff/12426494/7d5577a00608/can-19-1939fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/deff/12426494/c385c25709bf/can-19-1939fig3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/deff/12426494/290e61a2f26d/can-19-1939fig4.jpg

相似文献

1
BRCA mutation and multiple primary malignancies: a rare case of recurring triple-negative breast cancer and cervical cancer.BRCA突变与多原发性恶性肿瘤:一例罕见的复发性三阴性乳腺癌和宫颈癌病例
Ecancermedicalscience. 2025 Jul 2;19:1939. doi: 10.3332/ecancer.2025.1939. eCollection 2025.
2
Carboplatin and paclitaxel induced-gonadotoxicity on the ovarian reserve of young breast cancer patients with BRCA1 mutation.卡铂和紫杉醇对携带BRCA1突变的年轻乳腺癌患者卵巢储备功能的性腺毒性作用。
Hum Reprod. 2025 Jul 11. doi: 10.1093/humrep/deaf133.
3
Risk-reducing bilateral salpingo-oophorectomy in women with BRCA1 or BRCA2 mutations.对携带BRCA1或BRCA2基因突变的女性进行降低风险的双侧输卵管卵巢切除术。
Cochrane Database Syst Rev. 2018 Aug 24;8(8):CD012464. doi: 10.1002/14651858.CD012464.pub2.
4
BRCA functional domains associated with high risk of multiple primary tumors and domain-related sensitivity to olaparib: the Prometheus Study.与多原发性肿瘤高风险相关的BRCA功能域及与奥拉帕利相关的结构域敏感性:普罗米修斯研究
ESMO Open. 2025 Feb;10(2):104076. doi: 10.1016/j.esmoop.2024.104076. Epub 2025 Jan 22.
5
The BRCA mutation spectrum among breast and ovarian cancers in India: highlighting the need to screen BRCA1 185delAG among South Indians.印度乳腺癌和卵巢癌中的 BRCA 突变谱:强调在印度南部人群中筛查 BRCA1 185delAG 的必要性。
Eur J Hum Genet. 2024 Oct;32(10):1319-1326. doi: 10.1038/s41431-024-01596-w. Epub 2024 Mar 28.
6
and -Associated Hereditary Breast and Ovarian Cancer与BRCA相关的遗传性乳腺癌和卵巢癌 (你提供的原文“and -Associated”似乎有误,推测可能是“BRCA -Associated”,以上是基于修正后的翻译,若原文无误请告知我重新翻译 )
7
Gastric cancer risk and BRCA1/2 mutations: a systematic review and meta-analysis.胃癌风险与BRCA1/2突变:一项系统综述与荟萃分析
Per Med. 2025 Aug;22(4):245-256. doi: 10.1080/17410541.2025.2531737. Epub 2025 Jul 13.
8
Olaparib Monotherapy or in Combination with Abiraterone for the Treatment of Patients with Metastatic Castration-Resistant Prostate Cancer (mCRPC) and a BRCA Mutation.奥拉帕利单药治疗或与阿比特龙联合用于治疗转移性去势抵抗性前列腺癌(mCRPC)且存在BRCA突变的患者。
Target Oncol. 2025 May 21. doi: 10.1007/s11523-025-01146-4.
9
Survival outcomes of patients with HER2/neu-positive breast cancer with germline BRCA mutations.具有胚系 BRCA 突变的 HER2/neu 阳性乳腺癌患者的生存结局。
Cancer. 2024 May 1;130(9):1600-1608. doi: 10.1002/cncr.35159. Epub 2023 Dec 15.
10
Comparison of outcomes of neoadjuvant chemotherapy in - versus -associated breast and ovarian cancers.新辅助化疗在与乳腺癌和卵巢癌相关的疾病中的疗效比较。
Explor Target Antitumor Ther. 2025 Jun 18;6:1002325. doi: 10.37349/etat.2025.1002325. eCollection 2025.

本文引用的文献

1
BRCA1 deficiency enhances the aggressiveness of breast cancer cells expressing HPV16 oncoproteins.BRCA1 缺陷增强了表达 HPV16 致癌蛋白的乳腺癌细胞的侵袭性。
Biol Cell. 2024 Apr;116(4):e202300072. doi: 10.1111/boc.202300072. Epub 2024 Mar 21.
2
Platinum-based chemotherapy for early triple-negative breast cancer.含铂化疗治疗早期三阴性乳腺癌。
Cochrane Database Syst Rev. 2023 Sep 8;9(9):CD014805. doi: 10.1002/14651858.CD014805.pub2.
3
Hereditary cancer syndromes.遗传性癌症综合征
World J Clin Oncol. 2023 Feb 24;14(2):40-68. doi: 10.5306/wjco.v14.i2.40.
4
Prognostic Relevance of BRCA1 Expression in Survival of Patients With Cervical Cancer.BRCA1表达对宫颈癌患者生存的预后相关性
Front Oncol. 2021 Nov 8;11:770103. doi: 10.3389/fonc.2021.770103. eCollection 2021.
5
Human Papillomaviruses Target the DNA Damage Repair and Innate Immune Response Pathways to Allow for Persistent Infection.人乳头瘤病毒靶向 DNA 损伤修复和固有免疫反应途径,以允许持续感染。
Viruses. 2021 Jul 17;13(7):1390. doi: 10.3390/v13071390.
6
Homologous recombination, cancer and the 'RAD51 paradox'.同源重组、癌症与“RAD51 悖论”
NAR Cancer. 2021 May 17;3(2):zcab016. doi: 10.1093/narcan/zcab016. eCollection 2021 Jun.
7
Real-World Effectiveness of Human Papillomavirus Vaccination Against Cervical Cancer.人乳头瘤病毒疫苗接种预防宫颈癌的真实世界效果。
J Natl Cancer Inst. 2021 Oct 1;113(10):1329-1335. doi: 10.1093/jnci/djab080.
8
Triple-negative breast cancer: promising prognostic biomarkers currently in development.三阴性乳腺癌:目前正在开发的有前途的预后生物标志物。
Expert Rev Anticancer Ther. 2021 Feb;21(2):135-148. doi: 10.1080/14737140.2021.1840984.
9
Risk-Reducing Bilateral Salpingo-Oophorectomy for BRCA Mutation Carriers and Hormonal Replacement Therapy: If It Should Rain, Better a Drizzle than a Storm.BRCA 突变携带者的降低风险双侧输卵管卵巢切除术与激素替代疗法:如果要下雨,毛毛雨总比暴风雨好。
Medicina (Kaunas). 2019 Jul 29;55(8):415. doi: 10.3390/medicina55080415.
10
Genes: The Role in Genome Stability, Cancer Stemness and Therapy Resistance.基因:在基因组稳定性、癌症干性及治疗抗性中的作用
J Cancer. 2019 May 14;10(9):2109-2127. doi: 10.7150/jca.30410. eCollection 2019.