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Article

TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw

26 Oct 2018

Abstract excerpt

Giant cell lesions of the jaw (GCLJ) are debilitating tumors of unknown origin with limited available therapies. Here, we analyze 58 sporadic samples using next generation or targeted sequencing and report somatic, heterozygous, gain-of-function mutations in KRAS, FGFR1, and p.M713V/I-TRPV4 in 72% (42/58) of GCLJ. TRPV4 p.M713V/I mutations are exclusive to central GCLJ and occur at a critical position adjacent to...

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PMID: 30385747
DOI: 10.1038/s41467-018-06690-4

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