BRCA1 variant of uncertain significance

soccermom

Confused!! When I was DX in 2004 I had BRCA testing with result variant of uncertain significance. It was the first time this variant had been seen. My father was tested and he had the same variant. He had three bouts with cancer: colon, bladder and some type of blood cancer from which he died at age 83 after refusing treatment for that. Very few females in my family for reference, although my first cousin on my mother's side had BC in her late 50's. At the time I had the best doctors and myriad who all basically reassured me it was probably not anything to worry about.

Fast forward to 2012. I am now with Kaiser, couldn't afford and didn't have access to the same insurance/medical team I had before. Went to Kaiser genetic counselor. Myriad has since identified 2 more people with this variant...but it is still uncertain significance. The Kaiser GC has referred me to a gyn onc and a general surgeon to discuss oophorectomy and prophy MX of the "good" side!! I am in total shock having thought all that was behind me! I am HEr 2 + and had herceptin. 

The onc had originally sent me to the GC to see if she would OK an MRI- that's all I wanted. My old team of drs had me going for MRI every other year.

Never expected this. Cancer just keeps on giving doesn't it? I'm now almost 60 and the thought of more surgery, reconstruction etc just doesn't compute. Plus it would really jeopardize my job which is very discouraging of taking time off...but of course I will go to the Kaiser docs as recommended and see what they say. It's just weird that kaiser has a completely different approach that my previous medical team- the one that I trust and credit with saving my life! 

beacon800

Gosh that really is confusing. But if I read it right, myriad still doesn't know if your mutation is dangerous or not. So it seems a lot to go thru all that surgery when they don't even know if the mutation triggers breast cancer. It will be interesting to hear the consults, but I cannot imagine they will do more than monitor you closely.

dlebleu

Hi soccermom! I was dx when I was 39. My twin sister was dx at age 33. At the time of her dx, she underwent testing (twice) and both results were: VUS (variant of undertermined signigicance). She had Stage 2 invasive. I was diagnosed 6 years after her - and was tested for the same exact mutation. Analysis then was: variant of undertermined signifcance. Since there were 2 of us - both young with pretty agressive cancer, I went ahead with a bilat mx and ovaries removed. My twin - who also tested positive for a BRAC2 mutation, underwent a prophylax bilat mx and ovary removal. My point in sharing - the data can go either way. 9 months after my analysis, I got an update to "Suspected deleterious".  Did they use my sister's data point as input to re-analyze? Who knows. And since you do not have much family history, this is a real crapshoot. I must say though, that I have met a great number of ladies who have gone 'pre-vivor' that is; taking prophylactic measures to remove breast tissue or ovaries. Not one - not a single one - was every sorry about what they did. Don't know if this helps - you are soccer - MOM so people have an interest in keeping you around. Best!   Diane at pink-pockets dot com

Mutd

Wouldn't it be completely against the professional guidelines of GCs to refer somebody to the surgeons because of a variant which is "uncertain" and which (with just 3 patients to date) probably doesn't have any reasons to suspect anything? It's kind of written in stone, "if a variant is uncertain, then pay attention to medical history rather than to the variant". Is there anything in addition to Myriad's 3 patients which made your GC treat it differently? Publications?

slak

Hi Soccermom - I am sure you are feeling a little overwhelmed right now.  The other ladies make very good points.  I have a background in molecular biology (cloned a few genes and been involved in some genetic studies) so I thought I'd give you my perspective.  Almost every gene has variants in them.  Some affect function, many do not have any impact at all.  I had the BRCA test but had no plans to do anything drastic if there was a finding of 'uncertain significance' (note that I was diagnosed at 48 yrs old, so kind of in the middle between young and old).   I think there are a lot of things to consider before doing aggressive prophylaxis:  age at first diagnosis (sounds like you were around 52), evidence of the variant being deleterious (sounds like there is no evidence to date, but you should ask more about this), family history on your Dad's side since he carries the variant (sounds like you have a small family so there isn't much info there), etc.  If I was really young when diagnosed and carried a variant of 'uncertain significance' (say in my 20's or 30's), I would consider aggressive prevention.  If I was older than 40 or so at diagnosis, I would think about a second opinion before I was urged to do all that surgery (even if I had to pay for the second opinion).  Also, your almost 60 now and haven't had a new occurence, so that's very good.  In the end, you need to do what you feel is best for you.  There is no right or wrong answer here, because there just isn't enough info to tell you what to do.  Best of luck to you and many hugs!

soccermom

Thank you everyone for your kind thoughts and enlightened replies. I decided not to do anything special about it right now. The genetic counselor at Kaiser seemed to have a different approach from my previous docs and other docs I talked to at Kaser, including a gynec Onc..

Hitting 60 last year and having my 10 year cancerversary coming up this year puts new perspective on things too..

Sorry for my late reply and best wishes and many thanks to all who replied!