作者
Kathryn Lasseter, Amin H Nassar, Lana Hamieh, Jacob E Berchuck, Pier Vitale Nuzzo, Keegan Korthauer, Atul B Shinagare, Barbara Ogorek, Rana McKay, Aaron R Thorner, Gwo-Shu Mary Lee, David A Braun, Rupal S Bhatt, Matthew Freedman, Toni K Choueiri, David J Kwiatkowski
发表日期
2020/8
期刊
Genetics in Medicine
卷号
22
期号
8
页码范围
1366-1373
出版商
Nature Publishing Group US
简介
Purpose
Plasma cell-free DNA (cfDNA) variant analysis is commonly used in many cancer subtypes. Cell-free methylated DNA immunoprecipitation sequencing (cfMeDIP-seq) has shown high sensitivity for cancer detection. To date, studies have not compared the sensitivity of both methods in a single cancer subtype.
Methods
cfDNA from 40 metastatic RCC (mRCC) patients was subjected to targeted panel variant analysis. For 34 of 40, cfMeDIP-seq was also performed. A separate cohort of 38 mRCC patients were used in cfMeDIP-seq analysis to train an RCC classifier.
Results
cfDNA variant analysis detected 21 candidate variants in 11 of 40 mRCC patients (28%), after exclusion of 2 germline variants and 6 variants reflecting clonal hematopoiesis. Among 23 patients with parallel tumor sequencing, cfDNA analysis alone identified variants in 9 patients (39%), while cfDNA analysis focused on tumor sequencing …
学术搜索中的文章
K Lasseter, AH Nassar, L Hamieh, JE Berchuck… - Genetics in Medicine, 2020