年轻 BRCA1/BRCA2 基因突变携带者的乳腺癌预后：一项基于医院的队列回顾性研究。

IF 3.2 3区医学 Q2 ONCOLOGY

Clinical oncology Pub Date : 2024-10-18 DOI:10.1016/j.clon.2024.10.030

F. Hego , M. Barthoulot , S. Chretien , C. Pierard , M. Boulaire , S. Bécourt , L. Boulanger , L. Ceugnart , A.L. Conoy , F. Oca , A. Mailliez

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引用次数: 0

摘要

目的：评估乳腺癌患者种系 BRCA1/2 基因突变（gBRCAm）对预后影响的研究报告结果相互矛盾。因此，我们旨在调查 gBRCA 基因突变和早期乳腺癌患者的预后情况：这项回顾性研究纳入了 2005 年至 2019 年间招募的 149 名患者。研究结果为总生存期（OS）和无病生存期（DFS），分别定义为从首次诊断到死于任何原因的时间，以及首次复发、第二次癌症或死于任何原因的时间。根据 BRCA 基因突变状态对患者的关键数据、Kaplan-Meier 图和结果进行了描述。采用考克斯比例危险模型计算危险比（HR）：28名患者（28/149；18.8%）为gBRCAm携带者。OS 中位随访时间为 8.2 年。2年后，携带者的OS为89.3% [70.4-96.4] vs 99.2% [95% CI：94.3-99.9]；5年后，携带者的OS为85.2% [65.2-94.2] vs 93.0% [86.5-96.5]；10年后，携带者的OS为76.5% [54.7-88.8] vs 85.2% [75.7-91.2]。在多变量分析中，各组间的 OS 没有差异（HR = 1.90 [0.69-5.23]，P = 0.22）。DFS 中位随访时间为 6.6 年。DFS 的结果与此相似（HR = 1.39 [0.63-3.08]，P = 0.42）：结论：在这个以医院为基础的大型极早期乳腺癌患者队列中，我们没有发现明确的证据表明，在调整了已知的预后因素后，gBRCA1/2m会显著影响OS。

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Breast Cancer Prognosis in Young BRCA1/BRCA2 Mutation Carriers: A Retrospective Hospital-based Cohort Study

Aim

Studies evaluating the prognostic impact of germline BRCA1/2 mutations (gBRCAm) in patients with breast cancer report conflicting results. Therefore, we aimed to investigate outcomes of patients with gBRCA mutations and early onset of breast cancer (<30 years) compared with those of noncarriers.

Materials and methods

This retrospective study included 149 patients recruited between 2005 and 2019. The outcomes were overall survival (OS) and disease-free survival (DFS), which were defined as the time from the first diagnosis to death from any cause and the first recurrence, second cancer, or death from any cause, respectively. Key patient data, Kaplan–Meier plots, and outcomes were described according to the BRCA mutation status. Hazard ratios (HR) were calculated using the Cox proportional hazards model.

Results

Twenty-eight patients (28/149; 18.8 %) were gBRCAm carriers. The OS median follow-up was 8.2 years. OS was 89.3% [70.4–96.4] in carriers vs 99.2% [95% CI: 94.3–99.9] in non-carrier patients at 2 years; 85.2% [65.2–94.2] vs 93.0% [86.5–96.5] at 5 years, and 76.5% [54.7–88.8] vs 85.2% [75.7–91.2] at 10 years. There was no difference in OS between groups in multivariable analysis (HR = 1.90 [0.69–5.23], p = 0.22). The DFS median follow-up was 6.6 years. Similar results were observed for DFS (HR = 1.39 [0.63–3.08], p = 0.42).

Conclusion

In this large hospital-based cohort of patients with very early-onset breast cancer, we found no clear evidence that gBRCA1/2m significantly affects OS after adjusting for known prognostic factors.

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来源期刊

Clinical oncology 医学-肿瘤学

CiteScore

5.20

自引率

8.80%

发文量

332

审稿时长

40 days

期刊介绍： Clinical Oncology is an International cancer journal covering all aspects of the clinical management of cancer patients, reflecting a multidisciplinary approach to therapy. Papers, editorials and reviews are published on all types of malignant disease embracing, pathology, diagnosis and treatment, including radiotherapy, chemotherapy, surgery, combined modality treatment and palliative care. Research and review papers covering epidemiology, radiobiology, radiation physics, tumour biology, and immunology are also published, together with letters to the editor, case reports and book reviews.