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Anyone good at reading BRAF reports?

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Anyone good at reading BRAF reports?

Posted By
jennifer83
12/16/2019 10:56am
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Replies: 8

Hello! I just got a notice that my BRAF testing results are in and was able to read through the 7-page report, but not able to understand it well. I have a call into the doc to see if he can explain, but he's not in the office until Wednesday. Is anyone here particularly ok with reading these kind of results? I'm so curious if I'm BRAF + or -. My initial reading makes me thing it's negative, but I don't know! If you don't mind taking a look, email me at jennnleonard@gmail.com and I'll forward it to you! (Jennn has 3 n's in that email). Thank you!

Jennifer

Primary 1B in 2014 - WLE and SNB negative. Recurrence Dec 2019 - Stage IV with mets in liver and lungs. Currently on ipi/nivo combo @ MD Anderson (Houston, TX).

Hi Jennifer, if it says that you are Braf "wild type" any where then you are considered negative or not having the Braf V600 mutation so Immunotherapy would be the path to follow. Now, there are several categories of the Braf V600 mutation with different letter for example the most common type of mutation being V600E. If you are postive it will give the specific mutation and letter that tells your oncologist if you would are able to use targeted therapy drugs that target the Braf + Mek pathway of the map kinase pathway. Best wishes!!! Ed

Thank you, Ed. It does have a section under Molecular Diagnostics that says: Additional explanations for the DNA and protein changes seen in the current specimen are shown in the following tables:

Explanation of DNA variant/mutation types seen in this specimen:
DNA Changes
SNV
A single nucleotide difference (point mutation) has been identified in the patient sample relative to the reference wild-type gene sequence.

Explanation of protein variant/mutation types seen in this specimen:
Protein Change
Missense
A single amino acid reside change in the patient sample relative to the reference wild-type protein sequence.

So I assume I'm wild-type?

Thank you for your help!

Jennifer

Primary 1B in 2014 - WLE and SNB negative.
Recurrence Dec 2019 - Stage IV with mets in liver and lungs. Currently on ipi/nivo combo @ MD Anderson (Houston, TX).

You have a single amino acid change relative to the wild type (which has none) thus by my account you are BRAF+ which means that you have both immunotherapy as well as targeted therapy available to you as possible options in your melanoma fight.
Melanie

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-s...

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

Hi Jennifer, here are two links for you if interested (video's) explaining the tests that are preformed on tumors to see if it is Braf + or mutated and second video by Dr. Weber explains Braf mutation is great detail, second video is from a couple of years ago so missing some of the new drugs that have been approved "Columbus trial" for Braf mutations.https://www.youtube.com/watch?time_continue=219&v=0QNX0dJ8wbs&feature=em... https://www.youtube.com/watch?v=ZBcRHFGTyGs

Thank you!

Jennifer

Primary 1B in 2014 - WLE and SNB negative.
Recurrence Dec 2019 - Stage IV with mets in liver and lungs. Currently on ipi/nivo combo @ MD Anderson (Houston, TX).

All this BRAF talk makes me wish I had asked for a copy of the report. The doctor just told me BRAF positive, but I know nothing beyond that.

I believe being BRAF+ is a good thing - it means you're eligible for targeted therapy! I got confirmation from my doc that I'm BRAF- via MyChart. I have a call into him to see if this changes anything as far as prognosis or what direction we go in with treatment. I believe we'll just keep trucking on with ipi/nivo treatment. Getting my second one this Saturday.

Jennifer

Primary 1B in 2014 - WLE and SNB negative.
Recurrence Dec 2019 - Stage IV with mets in liver and lungs. Currently on ipi/nivo combo @ MD Anderson (Houston, TX).