BRAF

(redirected from BRAF1)

BRAF

A gene on chromsome 7q34 that encodes a protein of the raf/mil family of serine/threonine protein kinases, which plays a role in regulating the MAP kinase/ERKs-signalling pathway, affecting cell division, differentiation and secretion.

Molecular pathology
BRAF mutations are associated with cardiofaciocutaneous syndrome, which is characterised by heart defects, mental retardation and a distinctive facial appearance. Acquired BRAF mutations have been linked to non-Hodgkin lymphoma, colorectal cancer, melanoma, thyroid carcinoma, non-small cell lung carcinoma and adenocarcinoma of lung.
References in periodicals archive ?
In the vast majority of the case reports of the association of NS-PVS, the same mutation in the PTPN11, SOS1, RAF1, BRAF1, and MAP2K1 genes was noticed [12].
(a) Gene class Gene Selected exons Signaling BRAF 11, 15 CBL 8, 9 ETV6 Complete FLT3 20 JAK2 12, 14 KIT 8, 17 KRAS 2, 3 SH2B3 2 MPL 10 NRAS 2, 3 Transcription CEBPA Complete NPM1 11 RUNX1 Complete TP53 Complete WT1 7, 9 Epigenetics ASXL1 12 DNMT3A Complete EZH2 Complete IDH1 4 IDH2 4 TET2 Complete KDM6A Complete RNA splicing SF3B1 12, 13, 14, 15, 16 SRSF2 1, 2 U2AF1 2, 6 ZRSR2 Complete (a) BRAF, v-raf murine sarcoma viral oncogene homolog B1 (synonym: BRAF1); ETV6, ets variant 6 (synonym: TEL); KIT, v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (synonyms: c-Kit, CD117, SCFR); SH2B3, SH2B adaptor protein 3 (synonyms: IDDM20, LNK); WT1, Wilms tumor 1 (synonyms: AWT1, WAGR, ).