乳腺癌相关突变患者中基因检测时间与突变类型对乳腺癌治疗的关联。
The association of genetic testing timing and mutation type on breast cancer management in patients with breast cancer-related mutations.
作者信息
Olunuga Ebunoluwa J, Thomas Samantha M, Ntowe Koumani W, Dalton Juliet C, Wang Ton, Chiba Akiko, Plichta Jennifer K
机构信息
Department of Surgery, Duke University Medical Center, Durham, NC, USA.
Duke Cancer Institute, Duke University, Durham, NC, USA; Biostatistics and Bioinformatics, Duke University, Durham, NC, USA.
出版信息
Am J Surg. 2025 Jan;239:116005. doi: 10.1016/j.amjsurg.2024.116005. Epub 2024 Oct 5.
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.
背景
我们旨在描述针对携带基因突变且患有同期乳腺癌（BC）或曾接受过BC治疗的患者的乳房管理情况。
方法
确定患有与BC相关突变且曾有过/患有同期BC诊断的成年人。根据突变类型[BRCA1/2、高外显率突变（HPM）、中等外显率突变（MPM）]和基因检测时间（与BC同期检测与BC治疗后检测）对分组进行分层。对结果进行比较。
结果
在纳入的338例患者中，63%携带BRCA1/2突变，9%为HPM，28%为MPM。约38%在BC诊断时进行检测，62%在BC治疗后检测。同期检测的患者更倾向于双侧乳房切除术（57%），而乳房肿瘤切除术为26%，单侧乳房切除术为16%，且因突变类型而异。既往接受过治疗的患者更倾向于监测（92%对8%的额外手术），无论突变类型如何。
结论
重要的BC相关基因检测结果的时间和突变类型可能与乳腺癌患者的管理决策相关。
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