48,830
edits
Difference between revisions of "BRAF V600E mutation"
Jump to navigation
Jump to search
no edit summary
| Line 2: | Line 2: | ||
The '''BRAF V600E mutation''', also '''BRAF V600E''', is a common recurrent mutation in the BRAF gene that is seen in many types of tumours and [[cancer]].<ref name=pmid21638088/> | The '''BRAF V600E mutation''', also '''BRAF V600E''', is a common recurrent mutation in the BRAF gene that is seen in many types of tumours and [[cancer]].<ref name=pmid21638088/> | ||
''BRAF gene'', formally known as ''v-RAF murine sarcoma viral oncogene homolog B1'', is a serine threonine kinase.<ref>{{OMIM|164757}}</ref> | The ''BRAF gene'', formally known as ''v-RAF murine sarcoma viral oncogene homolog B1'', is a serine threonine kinase.<ref>{{OMIM|164757}}</ref> | ||
The mutation can be demonstrated with [[Molecular pathology tests|molecular testing]] ([[ARMS]]). Also, a mutation specific [[immunostain]] (''VE1'') is available.<ref name=pmid21638088>{{Cite journal | last1 = Capper | first1 = D. | last2 = Preusser | first2 = M. | last3 = Habel | first3 = A. | last4 = Sahm | first4 = F. | last5 = Ackermann | first5 = U. | last6 = Schindler | first6 = G. | last7 = Pusch | first7 = S. | last8 = Mechtersheimer | first8 = G. | last9 = Zentgraf | first9 = H. | title = Assessment of BRAF V600E mutation status by immunohistochemistry with a mutation-specific monoclonal antibody. | journal = Acta Neuropathol | volume = 122 | issue = 1 | pages = 11-9 | month = Jul | year = 2011 | doi = 10.1007/s00401-011-0841-z | PMID = 21638088 }}</ref> | The mutation can be demonstrated with [[Molecular pathology tests|molecular testing]] ([[ARMS]]). Also, a mutation specific [[immunostain]] (''VE1'') is available.<ref name=pmid21638088>{{Cite journal | last1 = Capper | first1 = D. | last2 = Preusser | first2 = M. | last3 = Habel | first3 = A. | last4 = Sahm | first4 = F. | last5 = Ackermann | first5 = U. | last6 = Schindler | first6 = G. | last7 = Pusch | first7 = S. | last8 = Mechtersheimer | first8 = G. | last9 = Zentgraf | first9 = H. | title = Assessment of BRAF V600E mutation status by immunohistochemistry with a mutation-specific monoclonal antibody. | journal = Acta Neuropathol | volume = 122 | issue = 1 | pages = 11-9 | month = Jul | year = 2011 | doi = 10.1007/s00401-011-0841-z | PMID = 21638088 }}</ref> | ||