BRCA2 variation of uncertain significance?

Carolina59

Anyone know anything about this? I was neg. for BRCA1, but got this "variation of uncertain significance" for BRCA2. Genetic counselor said that as a group "variation of uncertain significance" accounts for about 12% of the testing, but as for my particular variation, the testing company has only seen it one other time.



GC is recommending that my father (his mother had bc) and my paternal cousin (diagnosed w/bc at age 43) get tested. The testing company will pay for them to be tested for this particular variation at no charge. My father was one of three boys, so BRCA2 gene may have been present, but not shown up as cancer, in his generation.



GC is also recommending that all women on my father's side of the family start getting breast screening at age 33, 10 years younger than my cousin's age at diagnosis.



Don't know what this means for me in terms of ovarian cancer. My cousin is 17 yrs. out from her diagnosis. She had uterine cancer 5 years ago, but that was determined to be from tamoxifen (which she was on for 7 1/2 years). Otherwise she has been NED.



Any thoughts?



Thanks,

Carolina

annie06

Hi Carolina

I just went thru testing, I was neg. for both BRCA1/2, but I was told about the 'variation of uncertain significance'.....which in my mind...would put me back to square one.....uncertainty. My concern too was the ovarian risk, as well as wanting a more dependable risk assessment regarding future breast cancer(s). I can check my paperwork...but I am guessing the reason they will test the other family members is to give you better clarity. If your dad tests positive, then that will give you insight into your own situation more likely. If neither of your parents carry the mutations, then you can't. If both your parents do carry them, you still may not have either of them. I am sure the GC went over all this with you...but that is my take on the 'variation of uncertain significance'. Testing other family members will perhaps answer some of that uncertainty that is present now. Am I making sense????

veggievet

Dear Carolina,

I would encourage as many of your family as possible to be tested: this is the best way to try to determine if your variant is a "deleterious mutation" vs. a "polymorphism" (ie-not cancer-causing).  Also definitely check out the organization FORCE: Facing Our Risk of Cancer Empowered at: http://www.facingourrisk.org.  FORCE is devoted to hereditary breast and ovarian cancer (regardless of the test results). In fact, they are having a conference in May (check out: http://www.facingourrisk.org/conference ) and one of the sessions will devoted to updates and research on variants and other "uninformative negative" tests.  Researchers at Moffitt Cancer Center, Mayo, and Memorial Sloan Kettering are looking at ways to determine if variants are deleterious or polymorphisms.  Stay tuned.

Warm regards,

Sue

  

Warmest regards,

Sue

Carolina59

Thanks for your responses, Annie and Sue. My father has agreed to be tested and I will talk to my cousin. My mother died almost four years ago, although there is no bc (or any other kind on her side of the family).



My GC is submitting my info to the Mayo clinic for their research. I will know more when I get the written report from her--this was all over the phone.



Thanks again. I will update when I know more.



xo Carolina