Effects of BRCA variation on prognosis in patients with nonmetastatic breast cancer

IF 1 4区生物学 Q4 GENETICS & HEREDITY

Annals of Human Genetics Pub Date : 2024-08-29 DOI:10.1111/ahg.12577

Alper Türkel, Ilknur Deliktaş Onur, Hicran Anik, Irem Öner, Haktan Bağiş Erdem, Taha Bahsi, Özge Özalp, Berna Öksüzoğlu, Öztürk Ateş, Cengiz Karaçin

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引用次数: 0

Abstract

Background

To compare the clinicopathological characteristics of nonmetastatic breast cancer patients with and without BRCA variations and to investigate the impact of BRCA variations on prognosis.

Methods

This retrospective single-center study involved an analysis of 938 patients with localized or locally advanced breast cancer who underwent BRCA variation testing. The patients were divided into three groups: 757 were without BRCA variation, 64 were with BRCA1 variation, and 117 were with BRCA2 variation.

Results

In patients with BRCA1 variation, the Ki67, grade, and frequency of triple-negative breast cancer were significantly higher than in patients without BRCA variation and with BRCA2 variation. The 5-year disease-free survival in patients with BRCA1 variation was significantly worse than the other two groups (without BRCA, BRCA1, and BRCA2; 87.7%, 69.9%, and 95.3%, respectively, p = 0.049). Multivariate analysis detected no significant difference between groups. The pathological complete response rates with neoadjuvant therapy were significantly better in patients with BRCA variations than those without BRCA variations (49.2% vs. 29.6%, p = 0.024).

Conclusion

Patients with BRCA1 variation had more aggressive tumor characteristics, such as higher Ki67 and higher grade. Also, triple-negative breast cancer was more common. The presence of BRCA1 variation may worsen survival outcomes. Neoadjuvant treatment responses of patients with BRCA variations were significantly better, and neoadjuvant treatment may contribute to survival outcomes in nonmetastatic patients with BRCA variations.

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BRCA 变异对非转移性乳腺癌患者预后的影响。

背景：比较有 BRCA 变异和无 BRCA 变异的非转移性乳腺癌患者的临床病理特征，并研究 BRCA 变异对预后的影响：比较有和没有BRCA变异的非转移性乳腺癌患者的临床病理特征，并研究BRCA变异对预后的影响：这项回顾性单中心研究分析了938名接受BRCA变异检测的局部或局部晚期乳腺癌患者。患者被分为三组：757 例无 BRCA 变异，64 例有 BRCA1 变异，117 例有 BRCA2 变异：结果：BRCA1变异患者的Ki67、分级和三阴性乳腺癌发生率明显高于无BRCA变异和BRCA2变异患者。BRCA1变异患者的5年无病生存率明显低于其他两组（无BRCA、BRCA1和BRCA2；分别为87.7%、69.9%和95.3%，P = 0.049）。多变量分析未发现组间存在显著差异。有BRCA变异的患者接受新辅助治疗的病理完全反应率明显高于无BRCA变异的患者（49.2% vs. 29.6%，P = 0.024）：结论：BRCA1变异患者的肿瘤特征更具侵袭性，如Ki67更高、分级更高。此外，三阴性乳腺癌也更为常见。BRCA1变异的存在可能会恶化生存结果。BRCA变异患者的新辅助治疗反应明显更好，新辅助治疗可能有助于提高BRCA变异非转移性患者的生存率。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Annals of Human Genetics 生物-遗传学

CiteScore

4.20

自引率

0.00%

发文量

审稿时长

3 months

期刊介绍： Annals of Human Genetics publishes material directly concerned with human genetics or the application of scientific principles and techniques to any aspect of human inheritance. Papers that describe work on other species that may be relevant to human genetics will also be considered. Mathematical models should include examples of application to data where possible. Authors are welcome to submit Supporting Information, such as data sets or additional figures or tables, that will not be published in the print edition of the journal, but which will be viewable via the online edition and stored on the website.