Talk to me about BRAC2

[Katie116]

I've written to you before. My DIL DX 5/14/09 w/Stage 4 OVCA. Had liver resection, then removal of all female organs & oomentum + surgery on diaphragm. Then a pleurectomy w/2 broken ribs. Her Dr. received a call last week saying that she has a genetic mutation of the BRAC2 gene. What does that mean? As I understand it, it's not THE BRAC2 gene, but some mutated form of it. This probably isn't making any sense.

Question 1: I don't understand why they waited so long to test for the BRAC genes. Why?
Question 2: Can you explain what I'm trying to describe?
Question 3: Would you hazard an opinion as to whether or not she might be a candidate for some of the Olaparib tests? Or does this 'mutation' preclude that?
Question 4: Where in the US are they doing the Olaparib experimental treatments?

She's had 4 rounds of Carbo/Taxol prior to the surgeries. Now attempting to do Carbo/Gemzar, then Gemzar regimen every two weeks. She's been unable to do the 2nd Gemzar only treatments two different times because her blood counts are so low. It seems that Gemzar is particularly tough on both red and white blood cells.

I noticed in another post that you explained someone's OVCA has a cancer that will not go away. Is there a reasonable chance that hers will go away, or is the best we can hope for that it can be kept at bay for a while? She turned 41 in October.

I know you don't like to talk prognosis. But that doesn't seem reasonable. Would you discuss what you think her prognosis might be?

Thanks, as always, for your time and insight.  Katie116

[Annekathryn Goodman, M.D.]

Hey there
you go ahead and rage for all of us. It is a tragic disease.
I would interpret "break the silence" as the silence of this disease until it is at late stage.  If only we could get signals from this cancer that it is there when it is stage  I.

as far as the gene mutation - if you have access to the actual report from the genetic analysis, could you print it in here and I can may address any other specific questions.
take care

[Katie116]

Thank you for responding. I will continue to research the BRAC mutations, but I'm not understanding if my DIL's BRAC 2 mutation is a 'mutation of a mutation.' Any reading mateirals you could point me to would be most helpful; however, I know you are busy and will not be offended if you do not have time to answer this post. Thank you for confirming what I know. My DIL's prognosis is grim. I think I'm in the anger/depression stages, and I just don't understand what the research community has not done more to understand and treat this monstrous disease. I've walked in the Ovarian cancer walk and have the 'break the silence' bracelet, but I don't see the point of the slogan. Silence? People get OVCA, ususally discovered at a late stage, and there's not much to be done. Is that the silence we're supposed to break? Oh, and add to that, there's no test for it, no specific treatment, and general symptoms.  Pardon me for raging. I'm just so angry and feeling futile.

[Annekathryn Goodman, M.D.]

Dear Katie

The importance of knowing BRCA 1 or 2 gene mutation status is three-fold:

-For the individual with the cancer, it gives information about risk of other cancers. So there is a higher risk of breast cancer
-there are new investigational drugs called PARP inhibitors that use the structural and functional changes associated with the gene mutation for novel therapies
-family members should consider getting gene tested. If a family member has the BRCA gene, that is a reason to consider the prophylactic removal of the ovaries and fallopian tubes and for some women - prophylactic mastectomies.

as far as prognosis, stage 4 ovarian cancer can have a grim prognosis but their are some who do well for many years. Women with ovarian cancer who have a BRCA mutation seem to have cancers that are more responsive to being killed by chemo

best wishes