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非裔美国人中与乳腺癌相关的种系突变基因检测面临的挑战。

Challenges to genetic testing for germline mutations associated with breast cancer among African Americans.

作者信息

Kamaraju S, Conroy M, Harris A, Georgen M, Min H, Powell M, Kurzrock R

机构信息

Medical College of Wisconsin, Milwaukee, WI, USA; Department of Medicine, Division of Hematology-Oncology, Medical College of Wisconsin, Milwaukee, WI, USA; Froedtert Hospital, Milwaukee, WI, USA.

Medical College of Wisconsin, Milwaukee, WI, USA; Froedtert Hospital, Milwaukee, WI, USA.

出版信息

Cancer Treat Rev. 2024 Mar;124:102695. doi: 10.1016/j.ctrv.2024.102695. Epub 2024 Feb 1.

Abstract

Inequities in preventive cancer screening, diagnosis, treatment, and inferior cancer outcomes continue to pose challenges across the cancer continuum. While the exact reasons for these inferior outcomes are unknown, multiple barriers to various domains of social determinants of health (SDOH) play a vital role, leading to inequities in cancer care. These include barriers to transportation, housing, and food insecurities, contributing to delays in preventive screening and treatment. Furthermore, aggressive biologies also exist across various racial profiles with accompanying germline mutations. For example, African Americans (AAs) have a higher incidence of triple-negative breast cancer subtype and a high prevalence of BRCA1/2 gene mutations, increasing the risk of multiple cancers, warranting high-risk screening for these populations. Unfortunately, other barriers, such as financial insecurities, low health literacy rates, and lack of awareness, lead to delays in cancer screening and genetic testing, even with available high-risk screening and risk reduction procedures. In addition, physicians receive minimal interdisciplinary training to address genetic assessment, interpretation of the results, and almost no additional training in addressing the unique needs of racial minorities, leading to suboptimal delivery of genetic assessment provision resources among AAs. In this review, we discuss the confluence of factors and barriers limiting genetic testing among AAs and highlight the prevalence of germline mutations associated with increased risk of breast cancer among AAs, reflecting the need for multi-panel germline testing as well as education regarding hereditary cancer risks in underserved minorities.

摘要

癌症预防筛查、诊断、治疗方面的不平等以及较差的癌症治疗结果在整个癌症治疗过程中持续构成挑战。虽然这些较差结果的确切原因尚不清楚,但健康的社会决定因素(SDOH)各个领域的多重障碍起着至关重要的作用,导致癌症护理方面的不平等。这些障碍包括交通、住房和粮食不安全方面的障碍,导致预防筛查和治疗的延迟。此外,在不同种族群体中也存在侵袭性生物学特征以及伴随的种系突变。例如,非裔美国人(AAs)三阴性乳腺癌亚型的发病率较高,BRCA1/2基因突变的患病率也较高,增加了患多种癌症的风险,因此需要对这些人群进行高风险筛查。不幸的是,其他障碍,如经济不安全、健康素养率低和缺乏认识,导致癌症筛查和基因检测的延迟,即使有可用的高风险筛查和风险降低程序。此外,医生接受的跨学科培训极少,无法进行基因评估、解读结果,几乎没有接受过针对少数族裔独特需求的额外培训,导致在非裔美国人中基因评估资源的提供效果不佳。在本综述中,我们讨论了限制非裔美国人进行基因检测的因素和障碍的交汇点,并强调了与非裔美国人乳腺癌风险增加相关的种系突变的普遍性,反映了对多组种系检测以及对服务不足的少数族裔进行遗传性癌症风险教育的必要性。

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