Molecular analysis of giant cell lesions

Giant cell lesions of the jaws are aggressive proliferative conditions that affect young and adult patients. The genetic profile of the tumour has not been established yet. In this project we performed whole exome sequencing of 18 samples and RNAseq (n=6) of giant cell lesions of the jaws. All the tumours are sporadic and only non-syndromic patients were included.

Type: Other
Archiver: European Genome-Phenome Archive (EGA)

2 Datasets 1 Publication

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID	Description	Technology	Samples
EGAD00001004143	Tumor exome reads consisting of bam files from jaw samples.	Illumina HiSeq 2500	18
EGAD00001004320	RNA-Seq data from 6 Giant Cell Lesions of the Jaw (GCLJ) samples.	Illumina HiSeq 2000	6

Publications	Citations
TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw. Gomes CC, Gayden T, Bajic A, Harraz OF, Pratt J, Nikbakht H, Bareke E, Diniz MG, Castro WH, St-Onge P, Sinnett D, Han H, Rivera B, Mikael LG, De Jay N, Kleinman CL, Valera ET, Bassenden AV, Berghuis AM, Majewski J, Nelson MT, Gomez RS, Jabado N. Nat Commun 9: 2018 4572	21