基因检测时间和突变类型对乳腺癌相关突变患者乳腺癌治疗的影响。

IF 2.7 3区医学 Q1 SURGERY

American journal of surgery Pub Date : 2025-01-01 DOI:10.1016/j.amjsurg.2024.116005

Ebunoluwa J. Olunuga , Samantha M. Thomas , Koumani W. Ntowe , Juliet C. Dalton , Ton Wang , Akiko Chiba , Jennifer K. Plichta

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引用次数: 0

摘要

背景：我们的目的是了解基因突变且同时患有乳腺癌（BC）或曾接受过 BC 治疗的患者的乳腺治疗情况：方法：我们确定了具有 BC 相关基因突变并曾/正在接受 BC 诊断的成年人。根据基因突变类型[BRCA1/2、高穿透性突变（HPM）、中度穿透性突变（MPM）]和基因检测时间（与 BC 同时进行还是在 BC 治疗后进行）对各组进行分层。结果进行了比较：在纳入的 338 名患者中，63% 有 BRCA1/2 基因突变，9% 有 HPM 基因突变，28% 有 MPM 基因突变。约 38% 的患者在确诊 BC 时接受了检测，62% 的患者在接受 BC 治疗后接受了检测。同时接受检测的患者倾向于双侧乳房切除术（57%），而肿块切除术和单侧乳房切除术分别占 26% 和 16%，这因突变类型而异。无论突变类型如何，之前接受过治疗的患者更倾向于接受监测（92%对8%接受额外手术）：结论：与乳腺癌相关的重要基因检测结果的时间和突变类型可能与乳腺癌患者的治疗决定有关。

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The association of genetic testing timing and mutation type on breast cancer management in patients with breast cancer-related mutations

Background

We aim to characterize breast management for patients with genetic mutations and concurrent breast cancer (BC) or prior BC treatment.

Methods

Adults with a BC-related mutation and prior/concurrent BC diagnosis were identified. Groups were stratified by mutation type [BRCA1/2, high penetrance mutation (HPM), moderate penetrance mutation (MPM)] and timing of genetic testing (concurrent with BC versus after BC treatment). Outcomes were compared.

Results

Among 338 patients included, 63 % had BRCA1/2 mutations, 9 % HPM, and 28 % MPM. Approximately 38 % had testing concurrent with a BC diagnosis and 62 % after BC treatment. Patients with concurrent testing favored bilateral mastectomy (57 %) versus 26 % lumpectomy, and 16 % unilateral mastectomy, which varied by mutation type. Patients previously treated preferred surveillance (92 % vs. 8 % additional surgery), regardless of mutation type.

Conclusion

The timing of a significant BC-related genetic test result and mutation type may be associated with management decisions among patients with breast cancer.

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来源期刊

American journal of surgery 医学-外科

CiteScore

5.00

自引率

6.70%

发文量

570

审稿时长

56 days

期刊介绍： The American Journal of Surgery® is a peer-reviewed journal designed for the general surgeon who performs abdominal, cancer, vascular, head and neck, breast, colorectal, and other forms of surgery. AJS is the official journal of 7 major surgical societies* and publishes their official papers as well as independently submitted clinical studies, editorials, reviews, brief reports, correspondence and book reviews.