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BMC Medicine
Published in: BMC Medicine 1/2014

Open Access 01-12-2014 | Research article

DNA methylation profiling reveals novel diagnostic biomarkers in renal cell carcinoma

Authors: Brittany N Lasseigne, Todd C Burwell, Mohini A Patil, Devin M Absher, James D Brooks, Richard M Myers

Published in: BMC Medicine | Issue 1/2014

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Abstract

Background

Renal cell carcinoma (RCC) is the tenth most commonly diagnosed cancer in the United States. While it is usually lethal when metastatic, RCC is successfully treated with surgery when tumors are confined to the kidney and have low tumor volume. Because most early stage renal tumors do not result in symptoms, there is a strong need for biomarkers that can be used to detect the presence of the cancer as well as to monitor patients during and after therapy.

Methods

We examined genome-wide DNA methylation alterations in renal cell carcinomas of diverse histologies and benign adjacent kidney tissues from 96 patients.

Results

We observed widespread methylation differences between tumors and benign adjacent tissues, particularly in immune-, G-protein coupled receptor-, and metabolism-related genes. Additionally, we identified a single panel of DNA methylation biomarkers that reliably distinguishes tumor from benign adjacent tissue in all of the most common kidney cancer histologic subtypes, and a second panel does the same specifically for clear cell renal cell carcinoma tumors. This set of biomarkers were validated independently with excellent performance characteristics in more than 1,000 tissues in The Cancer Genome Atlas clear cell, papillary, and chromophobe renal cell carcinoma datasets.

Conclusions

These DNA methylation profiles provide insights into the etiology of renal cell carcinoma and, most importantly, demonstrate clinically applicable biomarkers for use in early detection of kidney cancer.
Appendix
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Metadata
Title
DNA methylation profiling reveals novel diagnostic biomarkers in renal cell carcinoma
Authors
Brittany N Lasseigne
Todd C Burwell
Mohini A Patil
Devin M Absher
James D Brooks
Richard M Myers
Publication date
01-12-2014
Publisher
BioMed Central
Published in
BMC Medicine / Issue 1/2014
Electronic ISSN: 1741-7015
DOI
https://doi.org/10.1186/s12916-014-0235-x

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