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浸润性乳腺癌后及时进行种系BRCA检测可促进对侧预防性乳房切除术并提高生存率:一项观察性回顾性研究。

Timely germline BRCA testing after invasive breast cancer promotes contralateral risk-reducing mastectomy and improves survival: an observational retrospective study.

作者信息

Kostov Aleksandar M, Jensen Maj-Britt, Ejlertsen Bent, Thomassen Mads, Rossing Maria, Pedersen Inge S, Petersen Annabeth H, Christensen Lise Lotte, Wadt Karin A W, Berrocal-Almanza Luis C, Miranda Miguel, Lænkholm Anne-Vibeke

机构信息

Department of Surgical Pathology, Zealand University Hospital, Sygehusvej 9-11, 4000, Roskilde, Denmark.

Danish Breast Cancer Cooperative Group, Department of Oncology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.

出版信息

Breast Cancer Res Treat. 2025 May 23. doi: 10.1007/s10549-025-07726-2.


DOI:10.1007/s10549-025-07726-2
PMID:40408052
Abstract

PURPOSE: To report the rates of risk-reducing surgery (RRS) following germline testing for BRCA1/2 (likely) pathogenic variants (BRCApv) and to assess the impact of RRS and BRCA status on survival after surgical treatment for unilateral breast cancer (BC). METHODS: We identified 7145 women with BC (2000-2017), a BRCA test and median follow-up of 10.8 years from the Danish Breast Cancer Cooperative Group's clinical database. Distant recurrence-free (DRFS) and overall survival (OS) according to BRCA status were evaluated using the Kaplan-Meier method. Hazard ratios (HR) for BRCApv vs. BRCA wild-type, contralateral risk-reducing mastectomy (CRRM), and risk-reducing bilateral salpingo-oophorectomy (RRBSO), including interaction tests, were estimated using multivariable Cox models. RESULTS: Among BRCA1pv carriers (n = 403), CRRM rates were higher than in BRCA2pv (n = 317) (66% vs. 52%, p < 0.001) and more likely to receive timely testing, i.e., within 6 months of BC diagnosis (75% vs. 52%, p = 0.004). Regarding RRBSO rates, no differences were observed. CRRM was associated with significantly improved DRFS (HR = 0.63, 95% CI 0.51-0.78) and OS (HR = 0.64, 95% CI 0.51-0.82), independently of BRCA status and age. RRBSO was associated with improved OS only in BRCApv carriers, specifically, those aged ≥ 50 years (HR = 0.44, 95% CI 0.26-0.75). BRCApv (irrespective of affected gene) was associated with worse DRFS (HR = 1.31, 95% CI 1.06-1.63); however, this was only evident after 2 years of follow-up (HR = 1.53, 95% CI 1.22-1.93). BRCApv was not significantly associated with worse OS (HR = 1.25, 95%CI 0.98-1.58). CONCLUSION: Timely germline testing at BC diagnosis might increase CRRM rates in BRCApv carriers, thereby improving survival.

摘要

目的:报告对BRCA1/2(可能)致病变异(BRCApv)进行种系检测后进行降低风险手术(RRS)的比例,并评估RRS和BRCA状态对单侧乳腺癌(BC)手术治疗后生存的影响。 方法:我们从丹麦乳腺癌合作组的临床数据库中识别出7145例患有BC(2000 - 2017年)、接受过BRCA检测且中位随访时间为10.8年的女性。采用Kaplan-Meier方法评估根据BRCA状态的远处无复发生存期(DRFS)和总生存期(OS)。使用多变量Cox模型估计BRCApv与BRCA野生型、对侧降低风险乳房切除术(CRRM)和降低风险双侧输卵管卵巢切除术(RRBSO)的风险比(HR),包括交互作用检验。 结果:在BRCA1pv携带者(n = 403)中,CRRM比例高于BRCA2pv携带者(n = 317)(66%对52%,p < 0.001),并且更有可能接受及时检测,即在BC诊断后6个月内(75%对52%,p = 0.004)。关于RRBSO比例,未观察到差异。CRRM与显著改善的DRFS(HR = 0.63,95%CI 0.51 - 0.78)和OS(HR = 0.64,95%CI 0.51 - 0.82)相关,独立于BRCA状态和年龄。RRBSO仅在BRCApv携带者中与改善的OS相关,具体而言,是年龄≥50岁的携带者(HR = 0.44,95%CI 0.26 - 0.75)。BRCApv(无论受影响的基因)与更差的DRFS相关(HR = 1.31,95%CI 1.06 - 1.63);然而,这仅在随访2年后才明显(HR = 1.53,95%CI 1.22 - 1.93)。BRCApv与更差的OS无显著关联(HR = 1.25,95%CI 0.98 - 1. .58)。 结论:BC诊断时及时进行种系检测可能会提高BRCApv携带者的CRRM比例,从而改善生存。

相似文献

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Timely germline BRCA testing after invasive breast cancer promotes contralateral risk-reducing mastectomy and improves survival: an observational retrospective study.

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本文引用的文献

[1]
Germline BRCA testing in Denmark following invasive breast cancer: Progress since 2000.

Acta Oncol. 2025-1-28

[2]
Immediate Psychological Implications of Risk-Reducing Mastectomies in Women With Increased Risk of Breast Cancer: A Comparative Study.

Clin Breast Cancer. 2024-10

[3]
Improving Collection and Analysis of Overall Survival Data.

Clin Cancer Res. 2024-9-13

[4]
Germline Testing in Patients With Breast Cancer: ASCO-Society of Surgical Oncology Guideline.

J Clin Oncol. 2024-2-10

[5]
Comparing Prognosis for , , and Non-BRCA Breast Cancer.

Cancers (Basel). 2023-12-3

[6]
A Systematic Review and Critical Assessment of Breast Cancer Risk Prediction Tools Incorporating a Polygenic Risk Score for the General Population.

Cancers (Basel). 2023-11-12

[7]
EBCC-13 manifesto: Balancing pros and cons for contralateral prophylactic mastectomy.

Eur J Cancer. 2023-3

[8]
BRCA-CRisk: A Contralateral Breast Cancer Risk Prediction Model for Carriers.

J Clin Oncol. 2023-2-10

[9]
Risk reduction and screening of cancer in hereditary breast-ovarian cancer syndromes: ESMO Clinical Practice Guideline.

Ann Oncol. 2023-1

[10]
PredictCBC-2.0: a contralateral breast cancer risk prediction model developed and validated in ~ 200,000 patients.

Breast Cancer Res. 2022-10-21

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