KEGG   VARIANT: 673v1Help
Entry
673v1                      Variant                                 

Name
BRAF mutation
Gene
BRAF  B-Raf proto-oncogene, serine/threonine kinase [KO:K04365]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutation V600E
ClinVar: 13961 376069
dbSNP: rs113488022 rs121913377
COSM: 476
Variation
mutation V600K
ClinVar: 375941
dbSNP: rs121913227
Network
nt06210  ERK signaling
nt06268  Melanoma
nt06274  Thyroid cancer
  Element
N00013  Mutation-activated BRAF to ERK signaling pathway
N10007  Kinase inhibitor to BRAF mutation
N10008  Kinase inhibitor to MEK downstream of BRAF mutation
Reference
  Authors
Kondo T, Ezzat S, Asa SL.
  Title
Pathogenetic mechanisms in thyroid follicular-cell neoplasia.
  Journal
Nat Rev Cancer 6:292-306 (2006)
DOI:10.1038/nrc1836
Reference
  Authors
Li DD, Zhang YF, Xu HX, Zhang XP
  Title
The role of BRAF in the pathogenesis of thyroid carcinoma.
  Journal
Front Biosci (Landmark Ed) 20:1068-78 (2015)
DOI:10.2741/4359
Reference
  Authors
Richtig G, Hoeller C, Kashofer K, Aigelsreiter A, Heinemann A, Kwong LN, Pichler M, Richtig E
  Title
Beyond the BRAF(V)(600E) hotspot: biology and clinical implications of rare BRAF gene mutations in melanoma patients.
  Journal
Br J Dermatol 177:936-944 (2017)
DOI:10.1111/bjd.15436
Reference
  Authors
Guadarrama-Orozco JA, Ortega-Gomez A, Ruiz-Garcia EB, Astudillo-de la Vega H, Meneses-Garcia A, Lopez-Camarillo C
  Title
Braf V600E mutation in melanoma: translational current scenario.
  Journal
Clin Transl Oncol 18:863-71 (2016)
DOI:10.1007/s12094-015-1469-6
Reference
  Authors
Sosman JA, Kim KB, Schuchter L, Gonzalez R, Pavlick AC, Weber JS, McArthur GA, Hutson TE, Moschos SJ, Flaherty KT, Hersey P, Kefford R, Lawrence D, Puzanov I, Lewis KD, Amaravadi RK, Chmielowski B, Lawrence HJ, Shyr Y, Ye F, Li J, Nolop KB, Lee RJ, Joe AK, Ribas A
  Title
Survival in BRAF V600-mutant advanced melanoma treated with vemurafenib.
  Journal
N Engl J Med 366:707-14 (2012)
DOI:10.1056/NEJMoa1112302
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