BRAF

(redirected from v-raf murine sarcoma viral oncogene homolog B1)

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 ?
Mutations in the v-raf murine sarcoma viral oncogene homolog B1 (BRAF) gene are present in approximately 50%-60% of skin melanomas.
In their proposal, low-grade serous carcinoma develops from serous epithelium that acquires gene mutations for v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS) and v-raf murine sarcoma viral oncogene homolog B1 (BRAF).
This strategy of genomic trial enrichment, now encouraged by the US Food and Drug Administration (FDA) (3), has already demonstrated considerable success with the genomically guided trials of the use of HER2 (human epidermal growth factor receptor 2) positivity status for selecting trastuzumab-suitable patients with breast cancer and with the use of BRAF (v-raf murine sarcoma viral oncogene homolog B1) gene mutations to identify melanoma patients appropriate for vemurafenib therapy (9, 10).
Summary of Mutations Detected by Multiplex Polymerase Chain Reaction and Sequencing KRas BRaf Patient DNA Protein DNA Protein 1 c.35G>A p.G12D wt wt 4 wt wt c.1799T>A p.V600E 12 c.35G>T p.G12V wt wt 13 c.34G>A p.G12S wt wt c.198A>G p.A66A 14 wt wt c.1799T>A p.V600E 16 wt wt c.1799T>A p.V600E 18 c.35G>A p.G12D wt wt 19 c.38G>A p.G13D wt wt Abbreviations: BRaf, v-raf murine sarcoma viral oncogene homolog B1; KRas, v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog;wt, wild type.
The recent development of a BRAF (v-raf murine sarcoma viral oncogene homolog B1) gene mutation test in conjunction with vemurafenib therapy for melanoma is a recent example of this path (23).
[4] Human genes: BCR, breakpoint cluster region; ABL, Abelson tyrosine kinase; EML4, echinoderm microtubule associated protein like 4; ALK, anaplastic lymphoma receptor tyrosine kinase; EGFR, epidermal growth factor receptor; KRAS, v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog; BRAF, v-raf murine sarcoma viral oncogene homolog B1; NRAS, neuroblastoma RAS viral (v-ras) oncogene homolog; KIT, v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog; PIK3CA, phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha.
[5] Human genes: CBFB, core-binding factor, beta subunit; RUNX1, runt-related transcription factor 1; MAGI3, membrane associated guanylate kinase, WW and PDZ domain containing 3; AKT3, v-akt murine thymoma viral oncogene homolog 3 (protein kinase B, gamma); MAGI3-AKT3, fusion of genes MAGI3 and AKT3; KRAS, v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog; CT-NNB1, catenin (cadherin-associated protein), beta 1, 88kDa; SMARCA4, SWI/ SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4; CREBBP, CREB-binding protein; WNT, wingless-type MMTV integration site family; BRAF, v-raf murine sarcoma viral oncogene homolog B1.
[7] Human genes: KRAS, v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog; BRAF, v-raf murine sarcoma viral oncogene homolog B1; PIK3CA, phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit a; EGFR, epidermal growth factor receptor; TP53, tumor protein 53; ERBB2, v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian).
KRAS (v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog) and BRAF (v-raf murine sarcoma viral oncogene homolog B1) gene aberrations, on the other hand, are used as predictive markers for epidermal growth factor receptor therapy.
In addition, it has been shown that mutated KRAS [and BRAF (v-raf murine sarcoma viral oncogene homolog B1)] is associated with poorer overall survival.