作者
Kevin A Nguyen, Jamil S Syed, Carin R Espenschied, Holly LaDuca, Ansh M Bhagat, Alfredo Suarez‐Sarmiento, Timothy K O'Rourke Jr, Karina L Brierley, Erin W Hofstatter, Brian Shuch
发表日期
2017/11/15
期刊
Cancer
卷号
123
期号
22
页码范围
4363-4371
简介
BACKGROUND
Panel testing has been recently introduced to evaluate hereditary cancer; however, limited information is available regarding its use in kidney cancer.
METHODS
The authors retrospectively reviewed test results and clinical data from patients who underwent targeted multigene panel testing of up to 19 genes associated with hereditary kidney cancer from 2013 to 2016. The frequency of positive (mutation/variant likely pathogenic), inconclusive (variant of unknown significance), and negative results was evaluated. A logistic regression analysis evaluated predictive factors for a positive test.
RESULTS
Patients (n = 1235) had a median age at diagnosis of 46 years, which was significantly younger than the US population of individuals with kidney cancer (P < .0001). Overall, 6.1%, 75.5%, and 18.4% of individuals had positive, negative, and inconclusive results, respectively. The most commonly …
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