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Ultradeep sequencing detects <scp><i>GNAQ</i></scp> and <scp><i>GNA11</i></scp> mutations in cell‐free <scp>DNA</scp> from plasma of patients with uveal melanoma

14 Feb 2013

Abstract excerpt

Elevated levels of cell-free DNA (cfDNA) are frequently observed in tumor patients. Activating mutations in exon 4 (R183) and exon 5 (Q209) of GNAQ and GNA 11 are almost exclusively found in uveal melanoma, thus providing a highly specific marker for the presence of circulating tumor DNA (ctDNA). To establish a reliable, noninvasive assay that might allow early detection and monitoring of metastatic disease, we...

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PMID: 23634288
DOI: 10.1002/cam4.61

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