brca2 variant of uncertain significance

sanbar8771

Is anyone BRCA2+ Variant of uncertain significance? What does this exactly mean?

CandDsMom

Hi Sanbar - I don't have a BRCA mutation but didn't want to leave your post hanging. You may also want to post in the "BRCA" forum as well.

Anyway, my understanding of the three possible results from BRCA 1 and 2 testing is:

positive for mutation known to be associated with breast/ovarian cancer in BRCA 1 and/or 2

negative for the above

variant of unknown significance "VUS"

I think the last category has got to be pretty tough to deal with b/c they see something different about the way your BRCA 1 or 2 (I guess BRCA 2 is what you mentioned?) gene looks BUT they don't know if it is associated with cancer or not. 

From what my onc said, Myriad, the lab in Utah that does the testing, is compiling a list of these "VUS" mutations and at some point in the future IF they are able to link more definitively to breast/ovarian CA may be included as a positive BRCA test result. These VUS mutations could also be red herrings and not associated with anything though. So it truly is a shoulder shrugger unfortunately because I don't think anyone knows one way or another.  I do have a friend who has a VUS and her doctor is taking a more conservative approach with her - she is enrolled in an ovarian cancer screening program where she gets bloodwork and pelvic ultrasounds every 6 months (actually I am in it too just due to personal hx of BC at a young age).

I am sorry if you are having to deal with this uncertainty too, on top of BC.  It sure isn't fair.  (((hugs)))

sanbar8771

Thank you so much for responding. It really helps to hear this. My Dr. is choosing to treat me more aggresively because of my stats (see below). Right now I am on the monthly Zoladex shot, and already had a BMX and just started recon. I am also getting ultrasounds every 6 months and an trying to do what I can to keep the cancer from spreading. Well, thank you again for responding.

Fearless_One

Mine said that, too.   No clue what it meant - but I took everything out, just in case.... (breasts, ovaries)...

dansbetta

Is the BRCA2 Gene - gene-suppressor, responsible for the development of breast cancer .

If decisive role in the pathogenesis of the disease belongs to a single gene, but this gene in each family is different, then it is said about the genetic heterogeneity. To such diseases include family breast cancer, caused by a mutation of a gene BRCA1 on the 17-th chromosome or BRCA2 gene mutation on the 13th chromosome. Mutations in BRCA2 gene , located on the 13th chromosome , significantly increase the risk of breast cancer (and to a lesser extent - the ovarian cancer ); men who have mutations in BRCA2, also predisposed to breast cancer .

Mutations of the gene BRCA2 meet approximately in two times less than the mutations of the BRCA1 gene. Approximately 1% of ashkenazi jews have a specific mutation of the BRCA2 gene: 6174delT .

soccermom

I have the VUS also, have to look up whether it was on BRCA 1 or 2. Onc recommended other family members be tested, so my dad was tested and HE HAD THE EXACT SAME mutation- my cousin also had BC and should get tested but I feel like she would freak out if I brought it up- it would be of benefit for her two sisters to know I believe-

also my brother should be tested but the same thing there- I think it would be upsetting to him for me to bring it up-

this really bothers me because my brother's wife's mother died of BC- and his daughter, my niece, could be at higher risk due to that family history ... my sister-in-law did ask about it but never followed up--

it also would help me to know regarding my remaining "good" breast ...

Bradygirl

Just got my results today, and BRCA2 sequencing shows N2425D97501A>G) uncertain significance. 

Doctor wants to still do the hysterectomy but leave my ovaries.  After reading some of your posts, make me wonder if I should have the ovaries removed......thoughts?