The gene HRAS is located in the chromosomal area 11p15.5. It belongs to the RAS oncogene family and encodes proteins with GTPase activity. The protein undergoes the cycle of de- and re- palmitoylation which regulates its displacement between the plasmatic membrane and Golgi apparatus. Mutations of this gene occur in the Costello syndrome and in different types of cancer. For example, carriership of a mutation in a Spitz tumor is associated with a positive prognosis.
We perform the examination of the entire coding sequence of the gene including exon-intron joints. We use PCR amplification of given regions and direct sequencing.
Analytic sensitivity and specificity of sequencing: 99 %.
Mutations will not be detected, in the case of somatic mutations analysis by sequencing, if the altered cell line will not represent at least 20 %.
- van Engen-van Grunsven AC, van Dijk MC, Ruiter DJ, Klaasen A, Mooi WJ, Blokx WA. HRAS-mutated Spitz tumors: A subtype of Spitz tumors with distinct features. Am J Surg Pathol. 2010 Oct;34(10):1436-41. PubMed PMID: 20871217.
- Rauen KA. HRAS and the Costello syndrome. Clin Genet. 2007 Feb;71(2):101-8. Review. PubMed PMID: 17250658.
- Knobbe CB, Reifenberger J, Reifenberger G. Mutation analysis of the Ras pathway genes NRAS, HRAS, KRAS and BRAF in glioblastomas. Acta Neuropathol. 2004 Dec;108(6):467-70. Epub 2004 Oct 28. PubMed PMID: 15517309.