Following my private DNA test dose anyone know anything about BAP1 in Genoa Sequencing.
I did DNA test and looked at my BAP1 sequance and My result are at bottom of picture WHERE A,A is indecated.
Top bit of picture is what bap1 sequence should be .. where A,C is.
Given my results DO you think A,A indicates mutation in my Bap1
Have you asked your dr. About the results?
Not seen my doctor yet waiting for appointment
Good Morning!
I know sometimes it's tough to wait for your doctor'said appt., but in the meantime start writing down all the questions you may have about this test to take with you. I certainly can't answer your question, but maybe someone else reading your post can.
When you do talk to your doc, please share. Im sure we'd be all interested to know what this test means.
Good luck!
Hi cheers i do have issues going on with immunity adaptive think is first part.
Anyway doctors i have been seeing have cheeped out on meds and underplayed severity of my condition.
Thats mainly why did test so i could see and try to understand for when i do confront my doctors.
But yer all be sure to share how right or wrong i was BUT with my DNA results have feeling this something not quite right.
Cheers thanks for reply
When I started a clinical trial with Dr. Furman in 2012, he asked me to provide samples for some exotic DNA testing, which I did several times in the years since.
I asked Dr. Furman whether any significant findings were identified. He summarized it by commenting that the researchers have found hundreds of variations in the genes of CLL cells when compared to "normal" cells from the same person, and about 70 were thought to be significant. But so far very few have proved to be statistically significant either for prognostic or treatment guidance.
They have found a few genetic variations that predict a potential resistance to Ibrutinib treatment, and some that predict a susceptibility to developing Richter's transformation. But most are still a curiosity.
Len
Currently the most advanced test in CLL is FOCUS::CLL by CGI in New Jersey... the genes included in the panel are TP53, ATM, BIRC3, NOTCH1, SF3B1, CARD11, and MYD88 as well as a menu of other tests and NGS sequences of the exome.
cancergenetics.com/cancer-g...
Complete NGS list
ncbi.nlm.nih.gov/gtr/tests/...
All very interesting, but the clinical impact hasn't been fully developed yet....
~chris
Hi @Lenkeck Researching mine i think key feture is Hpv virus now i never had sti or out but do have a wart on nuckle.
When am having good day wart is not visable but when am bad its pronounced noticeable.
Is all convoluted really but guess thats whats good about dna data bases as it's those little changes interchanges i think play big part in diseases.
I just hope its not evolution or cell turn over
HPV is quite common, if you are concerned consult your dermatologist... it can lead to an increase risk of cancers
en.m.wikipedia.org/wiki/Hum...
Hi cheers its not really dematolagest i need to see THINK immonoligest and genetic doc is needed.
Hpv in relation to bap1 brac1 is not fully understod and this about 100 strains of hpv.
There is a vaccine available for HPV and can be used by adults. Not a live virus.
It varies by country... in the U.S. women up to the age of 26 and homosexual men, in Australia I believe the vaccine is available to women up to the age of 45...
Here is the Canadian take at great length... over 150 types and the vaccines only work on a few...
phac-aspc.gc.ca/publicat/cc...
Something I read said it was recommended for immunosuppressed adults. But only a small number of strains.
This liads of strains of HPv.
Warts might be hpv virus but there not caused by sti
Strait Men women can get hpv those with cll are at risk ofsecondly cancers via Hpv virus.
Also they have used it in uk schools to immunise school girls.
Yep, Those CGI tests were the first that Dr. Furman collaborated on. Other researchers from Columbia NY Presbyterian also took samples, as did Gilead, and a few more- I've lost count of how many vials of my blood are scattered around the world. IMO, some may eventually guide future research or novel treatments, but so far nothing terribly useful to an individual patient that would justify the cost of paying for your own testing.
Len
Jeff, I played around this afternoon with the DNA sequence shown in your report from Genova. I came to the conclusion that the SNP that is shown in your report changes the resulting mRNA codon UAU (for tyrosine) at that location to UAG, which is a stop codon.
Instead of producing a 759 amino acid protein it appears that your BAP1 gene codes for a truncated 400 amino acid protein, which can no longer function as a tumor suppressor protein.
I can comment on the molecular biology, but certainly not on the clinical significance!
Keep us posted!
gardening-girl
Hi cheers i was using 23andMe and exported data to other sites looking for conductance.
Bottom bit of my picture was my results AC to AA
To be honest think you know more than me but have read stuff on mentioned but think went over my head.
But dose make sence as had guy say i had what seems to be stuff from mum dad and think that causes what you have said OR could of been HPv virus acting as aggravator.
Here is bit of what we was talking about : Each allele in the pairing is inherited from a different parent - in your case, where you received the result of AA, you inherited one A allele from your mother and one A allele from your father.
I'm not experienced with gene Bap1, so I can't say what's meant to be the normal (i.e. expected) allele pairing here - but to clarify, where did you get the information that your Bap1 sequence should be AC?
Assuming that we're talking about rs200156887, A and C are the available possibilities to be found in this location - the ancestral allele being A, which would suggest that someone who exhibits the pairing of AC would be the one with a mutation, not someone who exhibits the AA pairing.
Hi gardening-girl in your opinion would you say there is stuff going on with brac1 bap1 a mutation that warrents further investagation.
Jeff, since reading your more recent posts, I think that I may have misinterpreted your results. Usually a DNA sequence written with A/C would mean that C was substituted for A at position rs200156887. That would result in a stop-gain mutation as I indicated. However it seems that you are saying that your sequence had an A in that position in both copies of the gene. I can't read that part of your report because it is blocked by something. Let me know what your genetic counselor has to say. If you do indeed have a C in position rs200156887 it may be significant.
g-g
It is most likely just bad luck that we got CLL
Getting better
OSU Trial Update Cycle 9, Day 1
Allergic to IV Dye
