三阴性乳腺癌患者遗传基因检测中的差异。

IF 2.9 3区 医学 Q2 ONCOLOGY Clinical breast cancer Pub Date : 2024-10-10 DOI:10.1016/j.clbc.2024.09.018
Shruti Gupta, Jade E Jones, Demetria Smith-Graziani
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引用次数: 0

摘要

三阴性乳腺癌(TNBC)是乳腺癌的一种侵袭性亚型,对年轻女性、非西班牙裔黑人女性、西班牙裔女性和 BRCA1 基因突变女性的影响尤为严重。遗传基因检测对这一人群评估预防和治疗策略尤为重要,但基因检测的可及性却不尽相同。我们进行了一项定性研究,以评估 TNBC 患者接受基因检测的障碍。研究回顾了乳腺癌中常见的基因突变以及最新的治疗策略指南,包括将 PARP 抑制剂作为治疗策略的能力。基因检测的障碍是多因素的,非西班牙裔黑人妇女接受检测的频率低于其他群体。非西班牙裔黑人 TNBC 患者中接受降低风险手术或系统性靶向治疗的人数有限,这进一步体现了这种差异。消除基因检测的障碍可以让我们为基因突变风险较高的 TNBC 患者提供指导性治疗。
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Disparities in Hereditary Genetic Testing in Patients with Triple Negative Breast Cancer.

Triple-negative breast cancer (TNBC) is an aggressive subtype of breast cancer that disproportionately affects younger females, non-Hispanic Black women, Hispanic women, and women with the BRCA1 gene mutation. Hereditary genetic testing is particularly important in this population to assess preventative and treatment strategies, however access to genetic testing is variable. A qualitative review was performed to evaluate barriers to genetic testing for patients with TNBC. Mutations common in breast cancer are reviewed along with updated guidelines on management strategies, including the ability to include PARP inhibitors as a treatment strategy. Barriers to genetic testing are multifactorial, with non-Hispanic Black women being tested less often than other groups. The disparity is even further represented by the limited number of non-Hispanic Black patients with TNBC who receive risk-reducing surgery or targeted systemic therapy. Eliminating barriers to genetic testing can allow us to support guideline-directed care for patients with TNBC at higher risk for genetic mutations.

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来源期刊
Clinical breast cancer
Clinical breast cancer 医学-肿瘤学
CiteScore
5.40
自引率
3.20%
发文量
174
审稿时长
48 days
期刊介绍: Clinical Breast Cancer is a peer-reviewed bimonthly journal that publishes original articles describing various aspects of clinical and translational research of breast cancer. Clinical Breast Cancer is devoted to articles on detection, diagnosis, prevention, and treatment of breast cancer. The main emphasis is on recent scientific developments in all areas related to breast cancer. Specific areas of interest include clinical research reports from various therapeutic modalities, cancer genetics, drug sensitivity and resistance, novel imaging, tumor genomics, biomarkers, and chemoprevention strategies.
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