Multigene panel testing for cancer predisposition mutations is becoming routine in clinical care. However, the gene content of panels offered by testing laboratories vary significantly, and data on mutation detection rates by gene and by the panel is limited, causing confusion among clinicians on which test to order. Using results from 147,994 multigene panel tests conducted at Ambry Genetics, we built an interactive prevalence tool to explore how differences in ethnicity, age of onset, and personal and family history of different cancers affect the prevalence of pathogenic mutations in 31 cancer predisposition genes, across various clinically available hereditary cancer gene panels. Over 13,000 mutation carriers were identified in this high‐risk population. Most were non‐Hispanic white (74%, n = 109,537), but also Black (n  = 10,875), Ashkenazi Jewish (n  = 10,464), Hispanic (n = 10,028), and Asian (n = 7,090). The most prevalent cancer types were breast (50%), ovarian (6.6%), and colorectal (4.7%), which is expected based on genetic testing guidelines and clinician referral for testing. The Hereditary Cancer Multi‐Gene Panel Prevalence Tool presented here can be used to provide insight into the prevalence of mutations on a per‐gene and per‐multigene panel basis, while conditioning on multiple custom phenotypic variables to include race and cancer type.

中文翻译：

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来自多基因面板测试的遗传性癌症的突变患病率表。

癌症易感性突变的多基因面板检测正成为临床护理的常规方法。然而，检测实验室提供的panel的基因含量差异很大，而且每个基因和panel的突变检测率数据有限，导致临床医生在订购哪种检测时产生混淆。使用 Ambry Genetics 进行的 147,994 项多基因面板测试的结果，我们构建了一个交互式患病率工具，以探索不同癌症的种族、发病年龄以及个人和家族史的差异如何影响 31 个癌症易感基因中致病突变的患病率，跨越各种临床上可用的遗传性癌症基因组。在这个高危人群中发现了超过 13,000 名突变携带者。大多数是非西班牙裔白人（74%，n= 109,537)，还有黑人 ( n  = 10,875)、德系犹太人 ( n  = 10,464)、西班牙裔 ( n = 10,028) 和亚洲人 ( n = 7,090)。最普遍的癌症类型是乳腺癌 (50%)、卵巢癌 (6.6%) 和结直肠癌 (4.7%)，这是基于基因检测指南和临床医生转诊进行检测的预期结果。此处介绍的遗传性癌症多基因面板患病率工具可用于在每个基因和每个多基因面板的基础上深入了解突变的流行情况，同时调节多个自定义表型变量以包括种族和癌症类型。