Ontology highlight
ABSTRACT:
SUBMITTER: Presneau N
PROVIDER: S-EPMC4858131 | biostudies-literature | 2015 Apr
REPOSITORIES: biostudies-literature
Presneau Nadège N Baumhoer Daniel D Behjati Sam S Pillay Nischalan N Tarpey Patrick P Campbell Peter J PJ Jundt Gernot G Hamoudi Rifat R Wedge David C DC Loo Peter Van PV Hassan A Bassim AB Khatri Bhavisha B Ye Hongtao H Tirabosco Roberto R Amary M Fernanda MF Flanagan Adrienne M AM
The journal of pathology. Clinical research 20150316 2
Driver mutations in the two histone 3.3 (H3.3) genes, H3F3A and H3F3B, were recently identified by whole genome sequencing in 95% of chondroblastoma (CB) and by targeted gene sequencing in 92% of giant cell tumour of bone (GCT). Given the high prevalence of these driver mutations, it may be possible to utilise these alterations as diagnostic adjuncts in clinical practice. Here, we explored the spectrum of H3.3 mutations in a wide range and large number of bone tumours (n = 412) to determine if t ...[more]