S.O.S. Request on BRAC Testing

Michelle,

I am no expert, but I recently tested positive for the BRCA2 gene mutuation. First, I will tell you that there is an excellent web site called Facing Our Risk. I'm not sure if I'm allowed to put in a link to a website here, but if you google it, it will come up. It has extensive information on the BRCA gene mutation.

You say you became your family's history. Does that mean there is no other history of breast cancer in the family? I ask because for me, it took a family history of breast cancer, plus my triple neg dx at age 41, to "qualify" for the genetic testing.

Your daughter has had a double mast, that means she has in fact greatly reduced her risk of breast cancer. If you were to test postive for a BRCA gene mutation, your daughter could be tested as well. The only additional thing she could do would be to have her ovaries and fallopian tubes out, as there is a slightly higher risk of ovarian cancer associated with the BRCA gene. Clearly, this would be a big decision for a woman her age.

There are other women on this board that are far more knowledgeable than I am about these things (Tender comes to mind), but you could certainly ask to speak with the genetic counselor to determine your risk level, and whether or not they recommend testing for you. The test if very expensive, and needs pre-approval from your insurance company. An appt to discuss the test is not though, and it sounds like it would give you some peace of mind.

You are coming up on your three year mark! Congratulations on that, it is a huge milestone.

The cost of BRCA testing may vary from location to location.





I was quoted a price (INCLUDING all required counseling and testing. Counseling was REQUIRED at the place I went.) = about $4K in Mar 2006. They were able to quote me a price before I started the process. I know the first counseling session alone (1hr) cost me ~$300 because I paid for it out of pocket. (It was well worth it for me.)





I have heard if they know what mutation they are looking for, testing can be less expensive.



So it may vary with location, testing, and whether or not counseling costs are included.

Annie - I had BRCA testing (in the US) - I paid $100 out of pocket to see the genetic counselor and she drew the blood.  The actual test cost $3120 - alot more than $200!  But I was fortunate, my insurance co. paid for the test.

That being said, for your daughter's sake, I hope you do the test - if you are negative, then your daughter cannot have the BRCA1 or 2 mutated gene.  If you are positive, then your daughter has a 50/50 chance of also having the mutated gene.  Keep in mind one thing - every single doc I have seen about this has said that BRCA 1 and 2 are the only BC genes currentlly known to increase risk - but that there are probably another 100 BC genes out there that science just hasn't found and identified yet.  I am what is called an "uninformed negative" - meaning no one else in my family has (or will) test - but my great grandma and my mom both died from BC and my sister had BC 3 times before she had a double mastectomy at age 39.  Because of my family history and I also had so many biopsies and lumps removed, I decided to have a PBM with SGAP reconstruction - and I sleep so much better at night knowing I have done all that I can to reduce my risk and to "get it(BC)" "before it gets me".  I had already had a complete hysterectomy many years ago, so at least I didn't have to do that at the same time.

My heart goes out to you being the first family "history" - and for your daughter having to go through all this at such a young age.

Hugs and Blessings, Cindie

Annie--I've always heard the genetic testing costs about $3000; definitely check first with your insurance company!

Most of the time, genetic testing is done at major institutions. I think one example of a place in your area might be UCLA.



" Genetic Counselors

Since some cancers are hereditary, genetic counseling can be valuable for both individuals and entire families. Services at UCLA include: cancer genetic counseling, cancer risk assessment, and cancer genetic predisposition testing.

Phone: (310) 794-7576

Phone: (310) 825-8711"

http://www.cancer.ucla.edu/Index.aspx?page=213



There may be other places to get genetic testing. But do check if the genetic counselor is board-certified.



I found counseling (before testing) invaluable. They gave me an estimate of my risk for BRCA.





It can be like pulling teeth getting accurate information about your family tree. (You do all this beforehand of course. It can take weeks.) In some families they can 'change traditions'. They sometimes call ovarian cancer 'stomach cancer'. Some of these subject were next to taboo decades ago (at least in my family.) When I asked my elderly aunt (then about age 88) about 10 years ago, when she, or her mother (my grandmother), had menopause (we were alone), she looked at me like I was accusing her of child molestation.

Hey, all--

I hate to be the bearer of bad news, but the following statement is not completely correct:

"...for your daughter's sake, I hope you do the test - if you are negative, then your daughter cannot have the BRCA1 or 2 mutated gene.  If you are positive, then your daughter has a 50/50 chance of also having the mutated gene."

This is what it should say:  "...if you are negative, then your daughter cannot have inherited the BRCA1 or 2 mutated genes from your side of the family.  If you are positive, then your daughter has a 50/50 chance of also having the mutated gene from your side of the family." 

The BRCA mutations are inherited in an autosomal dominant pattern.  A person only needs one (not both) of her BRCA1 (or 2) genes to be abnormal, for her risk of BC to be increased.  The problem with the quoted statement is that the abnormal (mutated) BRCA gene can come from either side of the family--mom or dad.  It isn't "X" (sex) linked.

If mom does not carry the BRCA1 (or 2) mutation, and all the cases of BC are on mom's side of the family (none of the women on dad's side have developed BC or ovarian cancer), then of course the chances of a daughter developing BRCA-related cancer (at least from the known BRCA mutations) is slim to none.  You have to look at the prevalence of BC and ovarian cancer from both parents, though.

FWIW, even that does not tell the whole story.  I was referred to a genetic counselor by my onco surgeon because of possible familial risk. In addition to my own BC, I have one 2nd-degree relative and one 3rd-degree relative who developed BC.  At least one of those occurrences was prior to age 45.  The problem is the small number of female relatives in my family tree.  All my parents' siblings were men.  Even though none of those brothers developed breast cancer, several of them did develop prostate cancer.  There may be a link between BRCA mutations and prostate cancer, although most of the on-line discussions and BC risk calculators don't take that into account.

There is so darn much to learn....

otter 

I believe Otter is correct here..  My father passed from bc about 6 years ago and even though I thought to ask his doctors if we should be tested he assured me there was no need, apparently he believed (like many other doc's I have met since) that a father's incident of bc wouldn't be traferred to other's in the family.  However come ahead to last year and my daughter's doc asked her to ask me to get BRCA1/2 tested and I was told exactly what Otter has outlined above.  My BRCA 1/2 test, cost me out of pocket 4K (later after months of fighting I got the insurance to cover some), however, I was told by my genetic counselor that any other member (If I had tested positive) of my direct line (children) would be tested for approx. $200 so maybe that is where the $200 comes up.  If I was negative there is no need for my children to be tested however if I were positive they would know which DNA strand to look at from my test and that is the reason the price would be reduced -not as much testing.  It would have been far better for my brother's and sisters if my Dad had been tested <oh well> because each of us have children and so each of us SHOULD be tested for BRCA1/2..

Also, the very same week I tested negative for BRCA I/2 I came back positive for bc (I guess I hit the lottery)!  My genetic counselor at the local University had suggested a breast MRI and even though all of my other tests were negative including BRCA they did find DCIS in my left breast only with the MRI.  So it is a false security ladies if you test negative please continue to have regular tests and remember that 1 in 8 women in their lifetime will hit the lottery and have bc, not always connected to the genetic testing they have available right now! I imagine they will be finding more genetic groupings that indicate the potential of bc later.....

It seems everyone that has responded has given you accurate information but if you need more information try this site http://www.facingourrisk.org/

It was very informative for me since I didn't know my family history and have two teen girls.  Although there are negatives to knowing the results there are also positives. The most and only reason I had the test done was so my children could plan their futures with all the facts.

It cost $3k but my insurance covered it.  Good luck with your research and give it a lot of thought.

MS

Our science, currently, has only discovered certain "addresses" (a named deleterious gene) on the genetic chain that they can match up to a breast cancer problem.  When the first family member submits a sample, the test looks at all known deleterious genes. If a "bad gene" is confirmed, then the rest of the family is tested only for that bad address.  My sis had the Myriad test last year (second sis with breast cancer) and tested positive on a certain gene.  Her test was $3k.  The rest of the family submitted their blood for testing and it was only necessary to test for my sister's bad address which only cost $300.00. (It is possible but statistically rare to have two bad addresses).  Because ordered by my doctor, insurance covered it.

I just met with a genetics counselor yesterday.  She said the first time a BRCA test is done within a family, it costs about $3,100 because they have to search the whole gene (both BRCA1 & BRCA2) for a mutation.  If a BRCA mutation is identified in that person, other people in that family can be tested for that particular mutation for a lower cost--around $375 I think.

Insurance coverage for the test is based, in part, on the calculated likelihood that the person being tested will actually have a BRCA mutation.  The genetics counselor will make that calculation for you--it's done by computer, using information about cancer occurrence in family members, age of onset of the cancer, and the relatedness of those family members to you.

At the genetics clinic where I went, you can have a blood sample drawn and sent to the testing company, and the company will consult your insurance company about coverage based on the calculated risk that the mutated gene will be there.  You'll get a phone call from the counselor if the insurance company does not agree to pay the entire cost of testing.  At that point, you can bail out and the company will toss the sample if you decide you don't want to pay the difference.

otter 

Yes, beergirl, that's what the genetics counselor told me yesterday too.  The risk calculation she did for me included my male relatives who have prostate cancer, and the complete lack of anybody with ovarian cancer.  BRCA mutations are associated with increased risk of BC, ovarian cancer, and prostate cancer within a family.  Actually, there are links between BRCA mutations and other cancers, too, including melanoma (which I didn't realize).

otter

BRCA2Positive,  I'm so sorry you are positive!  It is a real burden, but you are taking all steps to remain as cancer free as possible!

As for telling your family well that is a problem!!!  I tried to let my family know but when I came back BRCA 1/2 negative and was dx the following week with bc well my family immediately went to "well then the tests are just not valid".  I tried to explain to them that first of all science haven't yet found all of the genetic markers connected to bc and that my negative was only to the tests available today and also there is ALWAY a 1 in 8 change you could still hit the lottery..  No one else will get the test now..  They don't "buy" them...  My brothers and sisters all have children - I hope they don't come to regret that decision...

Also it should be stressed (I think someone mentioned it earlier in another thread) that those of us in the hi risk even if we test negative to BRCA tests should keep our eyes and ears open just in case science finds another dna/genetic link test - then we should be tested again for those..

Best

You may not need to be "retested" as new genetic links to BC are developed...

When I got my results back from Myriad, my genetic counselor indicated that as Myriad adds new tests, they re-review the samples previously received, and would advise the genetic counselor of any new "positive" results.  (I don't know if that would be the case if you were the "add-on-test at a reduced price," or only if you paid the $3K for your testing.)

So before you pay for additional testing, check w/ your genetic counselor and see if you'll be advised about the "new gene discovered." 

HTH,

LisaAlissa

Hi...You ladies are remarkable.  I'm new to this site but I think it's a God Send that I found it.  I am confused about the gene test.  My onc said my "tumor" would be sent to the lab for gene testing.  Nothing mentioned about a blood test.  I don't see any postings from any of you that indicates your gene test would be done this way.

Thank you AnnNYC - You are exactly right.  My doc did say the tumor test would determine high-risk, medium-risk, low risk.  That would determine chemo therapy or not.  I was Stage 1 with no node invasion.  The doc did call it a gene test but it's really not BRCA.  Thank you so much for your explanation.  It was extremely helpful.