African American women are at increased risk of being diagnosed at a young age and/or with triple negative breast cancer, both factors which are included in current guidelines for identifying women who may benefit from genetic testing. Commercial breast cancer predisposition genetic panels, based largely on data derived from women of European ancestry, may not capture the full spectrum of cancer predisposition genes associated with breast cancer in African American women. Between 2001 and 2018, 488 unselected African American women with invasive breast cancer enrolled in the Clinical Breast Care Project. National Comprehensive Cancer Network (NCCN) Hereditary Cancer testing criteria version 1.2020 were applied to determine genetic risk. Targeted sequencing was performed using the TruSight Cancer panel and variants classified using the ClinVar database. Using NCCN criteria, 64.1% of African American women would be eligible for genetic testing. Fifty pathogenic or likely pathogenic mutations were detected in 19 genes with the highest frequencies in BRCA2 (29.4%) and BRCA1 (15.7%). Mutation frequencies in test-eligible and test-ineligible women were 13.1% and 3.5%, respectively. One-third of women harbored variants that could not be classified. While these data do not suggest a need to expand current commercial gene panels, NCCN criteria would fail to identify 12.5% of African American women with mutations in hereditary cancer predisposing genes.

非裔美国女性在年轻时被诊断出和/或患有三阴性乳腺癌的风险增加，这两个因素都包含在当前的指南中，用于识别可能从基因检测中受益的女性。商业乳腺癌易感基因组主要基于来自欧洲血统女性的数据，可能无法捕获与非裔美国女性乳腺癌相关的所有癌症易感基因。2001 年至 2018 年间，488 名未经选择的非裔美国浸润性乳腺癌女性参加了临床乳房护理项目。应用国家综合癌症网络 (NCCN) 遗传性癌症检测标准 1.2020 版来确定遗传风险。使用 TruSight Cancer panel 和使用 ClinVar 数据库分类的变体进行靶向测序。使用 NCCN 标准，64.1% 的非裔美国女性将有资格进行基因检测。在 19 个基因中检测到 50 个致病或可能致病突变BRCA2 (29.4%) 和BRCA1 (15.7%)。符合测试条件和不符合测试条件的女性的突变频率分别为 13.1% 和 3.5%。三分之一的女性携带无法分类的变异。虽然这些数据并不表明需要扩大当前的商业基因组，但 NCCN 标准无法识别 12.5% 的非裔美国女性具有遗传性癌症易感基因突变。