I’m not really sure what to make of that portion of your report, Jenn. There article is interesting:
https://www.targetedonc.com/publications/special-reports/2014/melanoma-skincancers-issue2/mutation-tests-in-melanoma-crucial-for-treatment
It notes: “The predominant mutation associated with melanoma, reported in about 50% of cases, occurs at position 600 in BRAF, a protein that is part of the mitogen-activated protein (MAP) kinase signal transduction pathway. Approximately 80% to 90% of these BRAF mutations are known as V600E, a T>A switch that results in an amino acid change of valine to glutamic acid at position 600, within the activation portion of the BRAF kinase domain. Another 5% to 10% of mutations at the same position are known as V600K, which results in a lysine substituted for valine at the same position.2,3
About 15% to 25% of melanomas display mutations in NRAS, a signaling molecule upstream of BRAF in the MAPK pathway,4while approximately 15% of melanomas show a mutation in KIT, a cell surface receptor involved in the same signaling pathway.5”
The article goes on to talk about the BRAF mutations V600E and K like Ed described and adds this…. “melanoma mutation detection panel … includes not only BRAF at position 600, but also NRAS, detecting mutations at codons 12 and 13 (exon 2), codons 59 and 61 (exon 3), and codons 117 and 146 (exon 4) of the NRAS proto-oncogene.14 The assay, based on real-time PCR, also tests for a mutation of c-KIT, a protein that acts upstream of NRAS in the MAPK pathway, at codon 816 (exon 17) in the c-KIT proto-oncogene…”
So since your report notes that there is “A single amino acid reside change in the patient sample relative to the reference wild-type protein sequence.” – I think it matters where that change is in the sequence in order to determine type. But, that’s just my take.
I’m sure your doc can clarify all of this on Wednesday, though I know when you are waiting for answers it can be nutters. Yours, celeste
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