As germline genetic testing capacities have improved over the last two decades, increasingly more people are newly diagnosed with germline cancer susceptibility mutations. In the wake of this growth, there remain limitations in both testing strategies and translation of these results into morbidity- and mortality-reducing practices, with pediatric populations remaining especially vulnerable. To face the challenges evoked by an expanding diversity of germline cancer mutations, we can draw upon a model cancer-associated genetic condition for which we have developed a breadth of expertise in managing, Trisomy 21. We can additionally apply advances in other disciplines, such as oncofertility and pharmacogenomics, to enhance care delivery. Herein, we describe the history of germline mutation testing, epidemiology of known germline cancer mutations and their associations with childhood cancer, testing limitations, and future directions for research and clinical care.

随着生殖系基因检测能力在过去二十年中的提高，越来越多的人被新诊断出患有生殖系癌症易感性突变。随着这种增长，测试策略和将这些结果转化为降低发病率和死亡率的实践仍然存在局限性，儿科人群仍然特别脆弱。为了应对生殖系癌症突变多样性不断扩大所引发的挑战，我们可以利用一种模型癌症相关遗传条件，我们已经为此开发了广泛的管理专业知识，即 21 三体。我们还可以应用其他学科的进展，例如作为肿瘤生育力和药物基因组学，以加强护理服务。在这里，我们描述了种系突变检测的历史，