Hematology Oncology, Ascension Providence Hospital, Southfield, MI.
Hematology Oncology, Ascension Providence Hospital, Southfield, MI.
Clin Breast Cancer. 2021 Jun;21(3):e220-e227. doi: 10.1016/j.clbc.2020.08.010. Epub 2020 Sep 3.
Genomic medicine has led to significant advancements in the prevention and treatment of cancer. The National Comprehensive Cancer Network (NCCN) guidelines recommend BRCA1/2 screening in high-risk individuals; however, the guidelines have not incorporated differences within ethnic cohorts beyond Ashkenazi Jewish ethnicity. We analyzed the prevalence of BRCA1/2 mutations in various ethnicities and identified high-risk personal characteristics and family history incorporating differences within ethnic cohorts beyond Ashkenazi Jewish ethnicity.
We reviewed data collected by a Michigan medical genetic clinic in a community-based hospital from 2008 to 2018. A retrospective chart analysis was conducted of 1090 patients who received genetic counseling regarding hereditary cancer syndromes.
We found a statistically significant higher rate of pathogenic BRCA1/2 mutation prevalence in African American patients, at 8.1%, compared to non-Ashkenazi Jewish white patients, at 3.6% (P = .02). African Americans have a mutational prevalence nearing that of the Ashkenazi Jewish population.
Revision of the NCCN guidelines regarding hereditary cancer syndrome testing in various ethnic groups is imperative and overdue. Future studies are needed to identify health care disparities in and socioeconomic barriers to genetic testing.
基因组医学在癌症的预防和治疗方面取得了重大进展。美国国家综合癌症网络（NCCN）指南建议对高危人群进行 BRCA1/2 筛查；然而，这些指南尚未将除了阿什肯纳兹犹太裔以外的种族群体内部的差异纳入其中。我们分析了不同种族中 BRCA1/2 突变的流行率，并确定了高危个人特征和家族史，这些特征和家族史考虑了除阿什肯纳兹犹太裔以外的种族群体内部的差异。
我们回顾了 2008 年至 2018 年期间密歇根州一家社区医院的医学遗传诊所收集的数据。对 1090 名接受遗传性癌症综合征遗传咨询的患者进行了回顾性图表分析。
我们发现，与非阿什肯纳兹犹太裔白人患者的 3.6%相比，非洲裔美国患者的致病性 BRCA1/2 突变流行率具有统计学意义上的更高，为 8.1%（P=0.02）。非洲裔美国人的突变流行率接近阿什肯纳兹犹太裔人群。
修订 NCCN 关于各种族遗传性癌症综合征检测的指南是必要的，也是过时的。需要进一步研究以确定遗传检测中的医疗保健差异和社会经济障碍。
