乳腺癌 BRCA 基因检测和咨询:如何满足患者的需求?

IF 6.5 2区 医学 Q1 ONCOLOGY
Peter Dubsky, Christian Jackisch, Seock-Ah Im, Kelly K Hunt, Chien-Feng Li, Sheila Unger, Shani Paluch-Shimon
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引用次数: 0

摘要

BRCA1 和 BRCA2 是肿瘤抑制基因,与乳腺癌的遗传易感性有关。胚系 BRCA1/2 致病变异或可能致病变异(gBRCAm)与乳腺癌治疗选择的临床相关性很大,因为它们会使患者对多(ADP-核糖)聚合酶(PARP)抑制剂敏感。BRCA1/2 基因突变状态还可能影响其他系统疗法、降低风险措施和手术选择的决策。因此,对 gBRCAm 检测的需求有所增加。基因检测存在一些障碍,包括检测设施、训练有素的咨询师和社会心理支持有限,以及检测的经济负担。在此,我们描述了目前 gBRCAm 检测对乳腺癌患者的影响,总结了目前的 gBRCAm 检测方法,提供了潜在的解决方案以支持更广泛地采用主流检测方法,并考虑了未来的检测方向。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

BRCA genetic testing and counseling in breast cancer: how do we meet our patients' needs?

BRCA genetic testing and counseling in breast cancer: how do we meet our patients' needs?

BRCA1 and BRCA2 are tumor suppressor genes that have been linked to inherited susceptibility of breast cancer. Germline BRCA1/2 pathogenic or likely pathogenic variants (gBRCAm) are clinically relevant for treatment selection in breast cancer because they confer sensitivity to poly(ADP-ribose) polymerase (PARP) inhibitors. BRCA1/2 mutation status may also impact decisions on other systemic therapies, risk-reducing measures, and choice of surgery. Consequently, demand for gBRCAm testing has increased. Several barriers to genetic testing exist, including limited access to testing facilities, trained counselors, and psychosocial support, as well as the financial burden of testing. Here, we describe current implications of gBRCAm testing for patients with breast cancer, summarize current approaches to gBRCAm testing, provide potential solutions to support wider adoption of mainstreaming testing practices, and consider future directions of testing.

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来源期刊
NPJ Breast Cancer
NPJ Breast Cancer Medicine-Pharmacology (medical)
CiteScore
10.10
自引率
1.70%
发文量
122
审稿时长
9 weeks
期刊介绍: npj Breast Cancer publishes original research articles, reviews, brief correspondence, meeting reports, editorial summaries and hypothesis generating observations which could be unexplained or preliminary findings from experiments, novel ideas, or the framing of new questions that need to be solved. Featured topics of the journal include imaging, immunotherapy, molecular classification of disease, mechanism-based therapies largely targeting signal transduction pathways, carcinogenesis including hereditary susceptibility and molecular epidemiology, survivorship issues including long-term toxicities of treatment and secondary neoplasm occurrence, the biophysics of cancer, mechanisms of metastasis and their perturbation, and studies of the tumor microenvironment.
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