Brca 1

[dorinda]

I Was Wondering If I Should Get Tested For The Brca1 And Brca2 .it Is My Understanding That The Her2 Is Not Inherited. Is That Right? I Have Three Daughters. Do I Just Ask My Onc To Do It For Me.thanks Dorinda

[Sandy in Silicon Valley]

Hi, Dorinda,

Your worry about possibly carrying a genetic predisposition that puts you and your daughters at higher risk of breast cancer is something I experienced as well.

Do you have other immediate family members (mother, grandmother, sisters) who've been diagnosed with breast cancer?

My mother was dx'd with breast cancer when she was 55; then I was dx'd with Stage II bc when I was 44. When I decided to get genetic testing, in 1997, via a study that was being done in my area at the time, I had to do a whole family history of breast and other related cancers, and found out that my maternal grandmother and 4 of her siblings all died of related cancers.

This made me a good candidate for genetic testing and genetic counseling. I tested positive for the BR CA 1 mutation, and later had my ovaries removed by laparoscopic oopherectomy, because the mutation also meant that I had a greater risk of developing ovarian cancer, and with chemo & anti-hormonal treatments, I'd already gone through menopause.

Like you, I also have 3 daughters. My oldest daughter got genetic testing, and thank goodness, tested negative. My other two daughters haven't yet been tested. I think that most genetic counselors feel that testing is only warranted if you have bc and have a mother or father with bc as well, and only if the results would change your health-related behavior.

The tests are still pretty expensive, and most insurance doesn't cover the costs, I think.

I don't know of any studied link between HER2neu+++ bc and either of the BR CA mutations - but I'm also HER2neu+++, and am on Herceptin and Tykerb.

(((hugs)))
Sandy in Silicon Valley

[dorinda]

Thanks For Your Information. I Have A First Cousin That Has Bc. She Has Had It For Several Years Now. My Mom Died Of Resp. Failure.my Dad Is Still Alive And In Good Health. I Donot Have Any Sisters. So Maybe I Dont Need To Be Concerned. If Insurance Doesnt Pay Then I Will Not Do It. I Didnot Know They Were Doing Herceptine And Tykerb Together. I Think I Asked My Onc But He Said He Wants To Save Tykerb For Later. How Long Have You Been On The Two Drugs. Are You Currently Ned. Dorinda

[Sandy in Silicon Valley]

Hi, Dorinda -

It doesn't sound terribly likely that you'd have the BR CA 1 or BR CA 2 genetic mutation, but I guess that it's always a remote possibility...

I've been on Herceptin for 4.5 years - since my Stage IV diagnosis in Feb. 2003. In 2005, even though my lung & lymphatic mets were stabilized (after Herceptin plus Xeloda), I was diagnosed with a large metastatic brain tumor, which was surgically removed. Then two other small mets showed up in my brain in the months following surgery. They were treated with CyberKnife stereotactic radiation (outpatient, one session each - really easy).

My radiation oncologist, bc oncologist, neurosurgeon and a neuro-oncologist I consulted all agreed that Tykerb would be worth a try, to prevent further brain metastatic progression - it's a small molecule, unlike Herceptin, and is thought to penetrate the blood brain barrier.

My oncologist had to jump through many hoops, with GSK and with my insurance company, to get Tykerb authorized for me, off-label (meaning not the FDA approved usage - which is only INSTEAD OF Herceptin, and WITH Xeloda!). I've been on it for 2 months now. It is no piece of cake. Although it is in pill form - 5 large pills all taken at once, at least an hour after and an hour before eating anything - the side effects I've experienced are worse than anything I've had with Herceptin - acne, severe itching on my scalp, sun blotches, diarrhea, severe occasional muscle cramping.

Hopefully, it's also doing some major damage to any bc cells left in my brain - keeping them from multiplying.

Wishing you much success, and an easy run, with whatever treatment you're on.

(((hugs)))
Sandy in Silicon Valley

[Linda]

Hi Dorinda:
I was tested (was negative) and can tell you that docs like you to consult with a genetics counselor before tested. The counselor will determine your risk (it depends on your age at dx, relatives with bc or ovarian and their age at dx and also your ethnic background.) If you google "Myriad Labs" in Salt Lake City you can get more info. Myriad has the patent on BRCA testing, so as far as I know, all blood samples go to them.
I was told that it's unusual for Her+ and BRCA to go together (BRCA+ women tend to be triple negs, I think) but it's not impossible.
It may take some research and travel to find a qualified genetics counselor. Where do you live? If your onc can't help you find someone, maybe the women on this site will have the info you need.
Best
Linda

[Sandy in Silicon Valley]

Hi, Linda and Dorinda -

Both of you mentioned having heard that certain pathological characteristics of breast cancer are correlated with having one of the genetic "alterations" or mutations - BRCA 1 or BRCA 2. I'd never heard or read that information before, and "Googled" the subject out of curiosity.

I found this informative website:
http://www.cancer.gov/cancertopics/factsheet/Risk/BRCA

It doesn't say anything about people with one of the genetic mutations being more likely to be HER2neu+++ (as Dorinda thought) or triple negative (as Linda mentioned). I don't think that enough data has been gathered as yet, about each of the different possible alterations on the BRCA 1 and BRCA 2 genetic strands, to determine whether there really is such a link.

For me, I tested BR CA 1 positive for one of the 3 "Heritage Panel" (Ashkenazi) mutations - which increases my risk of breast and ovarian cancer by 3-8X the average woman's. My original breast cancer pathology was ER-/PR+ (my surgeon declared that result a probable testing error, and my oncologist put me on anti-hormonal Tamoxifen after I finished 6 cycles of CAF - at the time - 1992 - there wasn't any test for HER2neu+++ status). Then when my breast cancer metastasized and was biopsied in 2003, it was ER-/PR- and HER2neu+++. My oncologist felt that the cancer had mutated, in the course of multiplying rapidly and over numbers of years, and became hormone-resistant. It may or may not have been HER2neu+++ to begin with, but it is overexpressing the protein currently.

If anyone has a link to research that indicates some connection between BRCA 1 or BRCA 2 genetic mutations and particular pathologies of breast cancer, I'd be very interested in reading the studies.

Thanks,
Sandy in Silicon Valley

[weezie1053]

Dorinda,

I have a daughter and three older sisters; therefore, I very much wanted to have the genetic testing--for their sakes as much as for my own mental health and well being. I was very skeptical as to whether the insurance company would pay for my testing; however, it did. My oncologist first made the referral to the genetic counselor. In my instance, the counselor first abstracted my blood, and I had to complete a very detailed family history. The counselor then sent the bloodwork to Myriad who contacted my insurance company for the pre-authorization. I was almost dumbfounded when the insurance carrier approved it. Myriad already had the bloodwork for the DNA testing, and I had the results in a matter of weeks.

My maternal grandmother had BC; however, she died of complications from melanoma which waved two red flags. I also have a brother who survived Prostrate Cancer in his mid-50's which was the third red flag. My mother died of Leukimia at age 57; however, no red flag. My father died at 85 of colon cancer; however, again no red flag for a genetic mutation for the BRACA genes.

I learned a lot from the genetic counselor. I tested negative for both of the BRACA genes, however, I was dx'd as high risk for recurrence due to family history and my own history of BC which will help pave the way with my ins carrier for aggressive and more frequent screenings (MRI's, etc.).

I would highly recommend a session with a genetics counselor. If you don't mind abstracting blood, they can submit for pre-authorization with your carrier. If they deny it, then the decision will be yours as to whether or not you want to pay it out of pocket. Once I had the green light, I was in the "go" position. Good luck with your decision!

Louise

[Sandy in Silicon Valley]

Hi, Louise and Dorinda -

The website that I provided in my earlier post discusses that some insurance carriers are paying for genetic testing these days - it was unheard of in 1997 when I was tested. That article discusses why some people choose to pay for their tests out-of-pocket, and not inform their insurance companies or doctors (the latter, at least not "on the record", to be put in one's charts).

The risk is that, if one tests positive - which I still don't think Dorinda's history indicates is likely - and the insurance carrier has that info on file, it can be held against the patient, or her offspring, as a "pre-existing condition", and coverage by an independent (non-group, non-employer-provided) carrier could be denied. This isn't a serious risk if one is already on record as diagnosed with bc or bcmets - that's already our pre-existing condition - and it'd be difficult to find any independent carrier to insure us (my costs-of-care alone approached $150K to my insurance carrier last year - we're insured through my husband's employment & group plan).

But it could be a big risk for our kids - and, if they went into business for themselves, or contracted their services out and needed to find their own insurance, they might be expected to report that their mother, or they themselves, have been tested and found positive for a BR CA mutation, especially if it's a matter of insurance company records.

That recorded information could be enough to deny our offspring insurance by an independent carrier, though Clinton got legislation passed, right before he left office in 1996, to make sure that employer-provided group insurance companies cannot discriminate against applicants on the basis of genetic testing.

I believe that once genetic testing becomes more widespread, and employer-carried group health plans more rare, independent insurers may require applicants to fill out questionnaires that ask about family history of genetic "alterations", or even ask for blood samples to test before approving an application. For now, our kids' generation faces a questionable reaction, if their family history of genetic predisposition to a very expensive-to-treat disease becomes known.

Just my personal 2c, but of course, the decision is up to the individual, and I think that talking with a genetic counselor is often helpful, if she/he is open about possible repercussions, should one's insurance provider pay for the test and get the results.

(((hugs)))
Sandy in Silicon Valley

[Linda]

Hi Sandy;
To answer your question. The genetics counselor I saw told me that one of the BRCAs (1 or 2 -- i can't remember) is most often hormone +, and the other BRCA mutation is often triple neg. And she said that her2+ is rarely also BRCA +. I don't know where she got her info, but she was a certified genetics expert at a large University hospital.
I was also tested because of my Ashkenaze heritage, as well as family history -- but was negative. They also told me that just because one tests negative does not mean that one might not have some other, as yet undiscovered, genetic mutation.
it's an important but stressful test to take and the results take weeks.
Take care all.
Linda

[Becky]

Linda

You are correct that most BRCA 1 positive women are triple negative. BRCA 2 positives - anything goes but they are rarely triple negative. Her2+ (in general) is not linked to BRCA 1 or 2 mutations but there are a couple of sisters on this board who are BRCA positives and obviously Her2+ as well.