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FLASH GENE

Symbol

BRAF

contributors: mct - updated : 21-06-2017

HGNC name	v-raf murine sarcoma viral oncogene homolog B1
HGNC id	1097

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

CFC2

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral fusion       fused with TIF1A to form the oncoprotein T18 tumoral somatic mutation       in malignant melanoma of the skin UV-exposed and in naevus, rarely in colorectal cancer with mismatch repair deficiency and in lung adenocarcinoma tumoral somatic mutation       a missense transversion T1796A in lung, head and neck cancers tumoral somatic mutation       V599E mutation in adult sporadic papillary thyroid carcinomas, with poorer clinicopathological outcomes constitutional germinal mutation       de novo missense mutation in CFC, at the interface of the ATP binding cleft and altering the catalytic activity of kinase domain tumoral     --low   by aberrant DNA methylation in colorectal cancer tumoral       gain of function in melanomas, mutation gain de function V600E (which encodes an amino acid substitution mutant of BRAF) in the neural crest lineage tumoral fusion       tandem duplication at 7q34 leading to a fusion between KIAA1549 and BRAF occurs in the majority of Pilocytic astrocytomas tumoral   amplification     duplication was the most frequent genomic aberration in constitutes a mechanism of MAPK pathway activation in low-grade astrocytoma tumoral fusion       KIAA1549-BRAF fusion gene in cells forming microvascular proliferations in pilocytic astrocytoma

Susceptibility

to melanoma to chronic lymphocytic leukaemia and prolymphocytic leukaemia.

Variant & Polymorphism SNP	SNP found to be weakly associated with melanoma status but not with development of nevi or freckles
	BRAF V600E mutation associated with chronic lymphocytic leukaemia and prolymphocytic leukaemia

Candidate gene	useful molecular marker to assist in risk stratification for patients with papillary thyroid cancer
	useful for prediction of clinical recurrence in low-risk patients with conventional papillary thyroid carcinoma (BRAF V600E mutation was associated with tumour recurrence in 21p100 with mutation vs 7p100 without mutation)
Marker	BRAF V600E is an important marker, especially, for classic variant of papillary thyroid carcinoma
Therapy target
	System Type Disorder Pubmed cancer     targeting oncogenic serine/threonine-protein kinase BRAF in cancer cells inhibits angiogenesis

ANIMAL & CELL MODELS

mice with a targeted disruption in the Braf gene die of vascular defects during midgestation