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Identification of incidental germline mutations in patients with advanced solid tumors who underwent cell-free circulating tumor DNA sequencing

Journal of Clinical Oncology Dec 10, 2018

Slavin TP, et al. - In patients who underwent solid tumor somatic mutation evaluation, researchers investigated whether cell-free DNA (cfDNA) analyses could potentially detect incidental germline cancer predisposition mutations. Data analysis was performed for 10,888 unselected patients with advanced (stage III/IV) cancer who had Guardant360 testing between November 2015 and December 2016. According to findings, it was feasible to detect putative germline mutations from cfDNA across multiple genes and cancer types without prior mutation knowledge. For cancers without clear guidelines for hereditary cancer genetic counseling/testing, many mutations were detected.
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