转移性乳腺癌和无细胞DNA BRCA1/2突变患者的脑转移。

IF 3 3区 医学 Q2 ONCOLOGY
Breast Cancer Research and Treatment Pub Date : 2025-07-01 Epub Date: 2025-04-25 DOI:10.1007/s10549-025-07705-7
Neelima Vidula, Erica Blouch, Katherine Hesler, Andrzej Niemierko, Aditya Bardia
{"title":"转移性乳腺癌和无细胞DNA BRCA1/2突变患者的脑转移。","authors":"Neelima Vidula, Erica Blouch, Katherine Hesler, Andrzej Niemierko, Aditya Bardia","doi":"10.1007/s10549-025-07705-7","DOIUrl":null,"url":null,"abstract":"<p><strong>Purpose: </strong>Brain metastases (BM) in patients with metastatic breast cancer (MBC) cause significant morbidity/mortality. A relatively high prevalence of BM is seen in patients with germline BRCA1/2 mutations. Some patients with MBC have somatic BRCA1/2 mutations but the prevalence of BM in this setting is not known.</p><p><strong>Methods: </strong>Here, we evaluated the prevalence and clinical and genomic characteristics of BM in patients with MBC with somatic BRCA1/2 mutations in cell-free DNA (cfDNA) using the Guardant360 assay. Clinical and genomic features of patients with somatic BRCA1/2 mutations and brain metastases, and those without brain metastases were compared using a Chi-squared test for categorical variables and Wilcoxon rank-sum test for continuous variables.</p><p><strong>Results: </strong>Of 36 patients with MBC and somatic BRCA1/2 mutations, 9 (25%) developed BM. The median time to development of BM was 6.7 months after somatic BRCA detection by cfDNA testing. Among patients with BM, somatic BRCA mutations were commonly BRCA1, clonal, and present at a higher mutant allelic fraction. The coexisting genomic landscape in patients with BM commonly included PIK3CA, TP53, MYC, EGFR, CCNE1, and KIT mutations.</p><p><strong>Conclusion: </strong>A relatively high prevalence of BM in patients with MBC harboring cfDNA somatic BRCA1/2 mutations was observed. CfDNA somatic BRCA1/2 mutations may help identify patients with MBC at risk for BM. To our knowledge, this is the first report linking cfDNA somatic BRCA mutations with BM, and requires further investigation in additional datasets and studies.</p>","PeriodicalId":9133,"journal":{"name":"Breast Cancer Research and Treatment","volume":" ","pages":"107-112"},"PeriodicalIF":3.0000,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Brain metastases in patients with metastatic breast cancer and BRCA1/2 mutations in cell-free DNA.\",\"authors\":\"Neelima Vidula, Erica Blouch, Katherine Hesler, Andrzej Niemierko, Aditya Bardia\",\"doi\":\"10.1007/s10549-025-07705-7\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Purpose: </strong>Brain metastases (BM) in patients with metastatic breast cancer (MBC) cause significant morbidity/mortality. A relatively high prevalence of BM is seen in patients with germline BRCA1/2 mutations. Some patients with MBC have somatic BRCA1/2 mutations but the prevalence of BM in this setting is not known.</p><p><strong>Methods: </strong>Here, we evaluated the prevalence and clinical and genomic characteristics of BM in patients with MBC with somatic BRCA1/2 mutations in cell-free DNA (cfDNA) using the Guardant360 assay. Clinical and genomic features of patients with somatic BRCA1/2 mutations and brain metastases, and those without brain metastases were compared using a Chi-squared test for categorical variables and Wilcoxon rank-sum test for continuous variables.</p><p><strong>Results: </strong>Of 36 patients with MBC and somatic BRCA1/2 mutations, 9 (25%) developed BM. The median time to development of BM was 6.7 months after somatic BRCA detection by cfDNA testing. Among patients with BM, somatic BRCA mutations were commonly BRCA1, clonal, and present at a higher mutant allelic fraction. The coexisting genomic landscape in patients with BM commonly included PIK3CA, TP53, MYC, EGFR, CCNE1, and KIT mutations.</p><p><strong>Conclusion: </strong>A relatively high prevalence of BM in patients with MBC harboring cfDNA somatic BRCA1/2 mutations was observed. CfDNA somatic BRCA1/2 mutations may help identify patients with MBC at risk for BM. To our knowledge, this is the first report linking cfDNA somatic BRCA mutations with BM, and requires further investigation in additional datasets and studies.</p>\",\"PeriodicalId\":9133,\"journal\":{\"name\":\"Breast Cancer Research and Treatment\",\"volume\":\" \",\"pages\":\"107-112\"},\"PeriodicalIF\":3.0000,\"publicationDate\":\"2025-07-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Breast Cancer Research and Treatment\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1007/s10549-025-07705-7\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/4/25 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q2\",\"JCRName\":\"ONCOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Breast Cancer Research and Treatment","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s10549-025-07705-7","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/4/25 0:00:00","PubModel":"Epub","JCR":"Q2","JCRName":"ONCOLOGY","Score":null,"Total":0}
引用次数: 0

摘要

目的:脑转移(BM)在转移性乳腺癌(MBC)患者中引起显著的发病率/死亡率。在生殖系BRCA1/2突变患者中,BM的患病率相对较高。一些MBC患者有体细胞BRCA1/2突变,但BM在这种情况下的患病率尚不清楚。方法:在这里,我们使用guarant360检测方法评估了无细胞DNA (cfDNA)体细胞BRCA1/2突变的MBC患者中BM的患病率、临床和基因组特征。对躯体BRCA1/2突变合并脑转移患者和无脑转移患者的临床和基因组特征进行比较,分类变量采用卡方检验,连续变量采用Wilcoxon秩和检验。结果:在36例MBC和体细胞BRCA1/2突变患者中,9例(25%)发展为BM。cfDNA检测出体细胞BRCA后,发展为BM的中位时间为6.7个月。在BM患者中,体细胞BRCA突变通常为BRCA1,克隆,并且存在较高的突变等位基因比例。BM患者中共存的基因组图谱通常包括PIK3CA、TP53、MYC、EGFR、CCNE1和KIT突变。结论:在携带cfDNA体细胞BRCA1/2突变的MBC患者中,BM的患病率相对较高。CfDNA体细胞BRCA1/2突变可能有助于识别有BM风险的MBC患者。据我们所知,这是第一个将cfDNA体细胞BRCA突变与BM联系起来的报告,需要在其他数据集和研究中进一步调查。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Brain metastases in patients with metastatic breast cancer and BRCA1/2 mutations in cell-free DNA.

Purpose: Brain metastases (BM) in patients with metastatic breast cancer (MBC) cause significant morbidity/mortality. A relatively high prevalence of BM is seen in patients with germline BRCA1/2 mutations. Some patients with MBC have somatic BRCA1/2 mutations but the prevalence of BM in this setting is not known.

Methods: Here, we evaluated the prevalence and clinical and genomic characteristics of BM in patients with MBC with somatic BRCA1/2 mutations in cell-free DNA (cfDNA) using the Guardant360 assay. Clinical and genomic features of patients with somatic BRCA1/2 mutations and brain metastases, and those without brain metastases were compared using a Chi-squared test for categorical variables and Wilcoxon rank-sum test for continuous variables.

Results: Of 36 patients with MBC and somatic BRCA1/2 mutations, 9 (25%) developed BM. The median time to development of BM was 6.7 months after somatic BRCA detection by cfDNA testing. Among patients with BM, somatic BRCA mutations were commonly BRCA1, clonal, and present at a higher mutant allelic fraction. The coexisting genomic landscape in patients with BM commonly included PIK3CA, TP53, MYC, EGFR, CCNE1, and KIT mutations.

Conclusion: A relatively high prevalence of BM in patients with MBC harboring cfDNA somatic BRCA1/2 mutations was observed. CfDNA somatic BRCA1/2 mutations may help identify patients with MBC at risk for BM. To our knowledge, this is the first report linking cfDNA somatic BRCA mutations with BM, and requires further investigation in additional datasets and studies.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
CiteScore
6.80
自引率
2.60%
发文量
342
审稿时长
1 months
期刊介绍: Breast Cancer Research and Treatment provides the surgeon, radiotherapist, medical oncologist, endocrinologist, epidemiologist, immunologist or cell biologist investigating problems in breast cancer a single forum for communication. The journal creates a "market place" for breast cancer topics which cuts across all the usual lines of disciplines, providing a site for presenting pertinent investigations, and for discussing critical questions relevant to the entire field. It seeks to develop a new focus and new perspectives for all those concerned with breast cancer.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信