Renal cell carcinoma (RCC) has been associated with germline pathogenic or likely pathogenic (PLP) variants in recognised cancer susceptibility genes. Studies of RCC using gene panel sequencing have been highly variable in terms of study design, genes included, and reported prevalence of PLP variant carriers (4–26%). Studies that restricted their analysis to established RCC predisposition genes identified variants in 1–6% of cases. This work assessed the prevalence of clinically actionable PLP variants in renal cancer predisposition genes in an Australian population-based sample of RCC cases. Germline DNA from 1029 individuals diagnosed with RCC who were recruited through the Victoria and Queensland cancer registries were screened using a custom amplicon-based panel of 21 genes. Mean age at cancer diagnosis was 60 ± 10 years, and two-thirds (690, 67%) of the participants were men. Eighteen participants (1.7%) were found to carry a PLP variant. Genes with PLP variants includedBAP1,FH,FLCN,MITF,MSH6,SDHB,TSC1, andVHL. Most carriers of PLP variants did not report a family history of the disease. Further exploration of the clinical utility of gene panel susceptibility testing for all RCCs is warranted.
肾细胞癌（RCC）与已知癌症易感基因中的种系致病性或可能致病性（PLP）变异相关。使用基因组合测序对RCC进行的研究在研究设计、包含的基因以及报告的PLP变异携带者患病率（4-26%）方面存在很大差异。将分析限制在已确定的RCC易感基因的研究发现，1-6%的病例中存在变异。本研究评估了澳大利亚基于人群的RCC病例样本中，肾癌易感基因中具有临床可操作性的PLP变异的患病率。通过维多利亚州和昆士兰州癌症登记处招募的1029名被诊断为RCC的个体，使用定制的基于扩增子的21个基因组合进行了种系DNA筛查。癌症诊断时的平均年龄为60±10岁，三分之二（690人，67%）的参与者为男性。发现18名参与者（1.7%）携带PLP变异。携带PLP变异的基因包括BAP1、FH、FLCN、MITF、MSH6、SDHB、TSC1和VHL。大多数PLP变异携带者未报告该疾病的家族史。有必要进一步探索对所有RCC进行基因组合易感性检测的临床效用。
肿瘤(癌症)患者之家