Posted by Adam on June 22, 2000, at 19:30:01
In reply to anyone have info on brac 1 and Brac2 tests , posted by mary jane on June 22, 2000, at 14:09:06
Hey, Mary Jane,
Not to be picky, but the genes are referred to as BRCA1/2.
Anyway, this page, published by the NCI (my employer of long ago) has information relevant to you questions...
http://cancernet.nci.nih.gov/wyntk_pubs/breast.htm
I do not know anyone personally who has undergone prophylactic mastectomy because of estimated risk due to the inheritance of mutant BRCA gene(s). I think such interventions are quite rare, though, and I'm not aware of any specific way of assessing prognosis once determining a woman is positive, except based on family history. Some already-existing treatments, such as tomoxifen (though this is still controversial), have shown some benefit in delaying or preventing cancer in predisposed patients. Also, if one is predisposed by the status of one or the other BRCA gene, insurance companies might be more apt to push toward a higher level of vigiliance and counseling/treatment for prophylaxis, rather than surgery with reconstruction, which is relatively expensive (though I don't know how it breaks down short-term vs. long term...also, I don't know what knowing your genotype does to your insurance status).
These are all things I have heard kind of word-of-mouth or through study from those in the know. One perspective I think is worth considering is that, with early detection, the prognosis for speedy recovery and survival is quite good for most cases of breast cancer. Also, the "aggressiveness" of the cancer isn't easy to predict on the basis of a single mutation. Rarely, if ever, do tumor supressor genes such as this lead to pathology in the absence of other genetic lesions, either inherited or aquired later. Copy number, presence or absence of estrogen or progesterone receptors, status of p53, etc. all contribute to risk of incidence and metastasis. It is not unreasonable to think that various preventative measures could be taken to lower risk. Again, family history may be the biggest determinant, especially the rate and age of incidence in first-degree relations. If young sisters are getting highly aggressive forms of breast cancer, and are also "BRCA-positive", then prophylactic surgery may be a reasonable approach. In other cases, it may be prudent to wait and see, and keep a steady watch.
Perhaps you or someone you know has already dealt with the problem, and this info is now irrelevant, or the options have already been adequately weighed and the decision already made. If not, though, I believe, based on what I have heard from some very smart people (most of them women, one a cancer survivor and unilateral mastectomy recipient), that it is best to carefully consider all the options. A positive test for a BRCA mutation is neither a death sentance, nor a certainty of breast cancer (though the risk is definitely greatly enhanced). If you can, seek skilled genetic counseling.
> Has anyone undergone breast removal and reconstruction after finding out they are predisposed to cancer via brac 1 and brac 2 genetic testing?
poster:Adam
thread:38124
URL: http://www.dr-bob.org/babble/20000619/msgs/38150.html