医疗公平和BRCA1/2检测。

IF 2.6 Q2 PUBLIC, ENVIRONMENTAL & OCCUPATIONAL HEALTH
Health Equity Pub Date : 2025-02-21 eCollection Date: 2025-01-01 DOI:10.1089/heq.2024.0167
Steven Sorscher
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引用次数: 0

摘要

虽然大多数癌症是散发性的,但很大一部分与遗传致癌基因有关,称为致病性种系变异(PGVs)。对于被确定为BRCA1和BRCA2 PGV携带者的患者,建议采取预防和早期诊断癌症的措施,这是最常见的癌症易感PGV。例如,已发表的指南建议BRCA1/2 pgv患者接受双侧卵巢切除术以预防卵巢癌,并定期进行磁共振成像以筛查乳腺癌。此外,对于通过级联检测确定为BRCA1/2携带者的家庭成员,建议采取相同的措施。本文回顾了诊断为乳腺癌的患者接受BRCA1/2 PGVs检测的组间显著差异的报告。将BRCA1/2检测的现行护理指南标准扩展到所有被诊断为乳腺癌的患者,并制定癌症登月计划2.0倡议措施,以减轻这些差异。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Health Care Equity and BRCA1/2 Testing.

Although most cancers are sporadic, a significant proportion are related to inherited cancer-causing genes called pathogenic germline variants (PGVs). There are recommended measures for prevention and earlier diagnosis of cancers in patients identified as BRCA1 and BRCA2 PGV carriers, which are the most common cancer-predisposing PGVs. For example, published guidelines recommend that patients with BRCA1/2 PGVs undergo bilateral oophorectomies to prevent ovarian cancer and regular magnetic resonance imaging to screen for breast cancer. Also, those same measures are recommended for family members identified by cascade testing as BRCA1/2 carriers. Here, reports of the significant disparities between groups in which patients diagnosed with breast cancer are offered and undergo testing for BRCA1/2 PGVs are reviewed. Expanding the current standard of care guidelines for BRCA1/2 testing to all patients diagnosed with breast cancer and enacting the Cancer Moonshot 2.0 Initiative measures that should mitigate these disparities are discussed as well.

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来源期刊
Health Equity
Health Equity Social Sciences-Health (social science)
CiteScore
3.80
自引率
3.70%
发文量
97
审稿时长
24 weeks
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