The identification of germline pathogenic/likely pathogenic (P/LP) variants in cancer predisposition genes can guide treatment and management decisions for the individual being tested and potentially at-risk relatives. Prior studies have raised concerns of racial/ethnic disparities in the detection rates of P/LP variants and variants of uncertain significance (VUSs). In 2018, Color Genomics™, a commercial laboratory, made de-identified, aggregate genetic and clinical information from 50,000 individuals who completed testing for 30 cancer predisposition genes publicly available. It is the largest publicly available database of its kind from a single laboratory. An analysis of individuals from this database with a negative personal history of cancer that identify as European (n = 31,920), Hispanic (n = 1700), African (n = 462) or Asian and Pacific Islander (n = 2602), demonstrated that the VUS rate in the hereditary breast and ovarian cancer syndrome and Lynch syndrome genes was higher for all non-European groups as compared to the European group; Hispanic (7.1% vs. 5.8%; p = 0.029), African (12.3% vs. 5.8%; p < 0.001), Asian and Pacific Islander (13.1% vs. 5.8%; p < 0.001). In the other cancer genes (OCGs), the P/LP rate was lower; Hispanic (5.1% vs. 7.6%; p < 0.001), African (2.4% vs. 7.6%; p < 0.001), and Asian and Pacific Islander (4.3% vs. 7.6%; p < 0.001). The VUS rate was also higher in the OCGs; Hispanic (16.2% vs. 12.2%; p < 0.001), African (21.6% vs. 12.2%; p < 0.001), Asian and Pacific Islander (24.4% vs. 12.2%; p < 0.001). Our study emphasizes the reality of disparities in the results of cancer genetic testing and highlights factors that propagate these inequities.

中文翻译：

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多基因遗传性癌症测试中的不平等：与欧洲人相比，被识别为西班牙裔，非洲人或亚洲及太平洋岛民的个人的诊断率较低，VUS率较高。

在癌症易感基因中鉴定种系致病性/可能致病性（P / LP）变体可以指导被测个体和潜在高危亲属的治疗和管理决策。先前的研究引起了人们对P / LP变异和不确定重要性变异（VUSs）检出率的种族/种族差异的关注。在2018年，商业实验室Color Genomics™从50,000名个体中获得了不明身份的，汇总的遗传和临床信息，这些个体完成了对30种癌症易感基因的公开测试。它是来自单个实验室的同类最大的公开数据库。从该数据库中对具有阴性个人癌症史的个人进行的分析，这些个人被确定为欧洲人（n = 31,920），西班牙裔（n = 1700），非洲人（n = 462）或亚洲及太平洋岛民（n = 2602）证明，与欧洲组相比，所有非欧洲组的遗传性乳腺癌和卵巢癌综合征以及Lynch综合征基因的VUS率较高；西班牙裔（7.1％vs. 5.8％; p = 0.029），非洲裔（12.3％vs. 5.8％; p <0.001），亚洲及太平洋岛民（13.1％vs. 5.8％; p <0.001）。在其他癌症基因（OCG）中，P / LP率较低；西班牙裔（5.1％vs. 7.6％; p <0.001），非洲裔（2.4％vs. 7.6％; p <0.001）和亚洲及太平洋岛民（4.3％vs. 7.6％; p <0.001）。OCG中的VUS率也较高；西班牙裔（16.2％vs. 12.2％; p <0.001），非洲裔（21.6％vs. 12.2％; p <0.001），亚洲及太平洋岛民（24.4％vs. 12.2％; p <0.001）。