Should I request a BRCA test?

HeatherBLocklear

Should I request a BRCA test?

HeatherBLocklear

Hi all,

I was diagnosed last month with triple negative medullary BC, stage IIIB. My lump appeared out of nowhere four months after a clean mammogram.

Two years ago I developed a huge ovarian cystadenoma, again out of the blue and overnight. No cancer was detected (and all scans and tumor marker came back fine), but I still elected an oopherectomy. As my OB/GYN said, "This time we were very lucky. These things tend to return; we might not be as lucky next time."

All my life I have answered "no," when asked if there is a family history of breast and/or ovarian cancer. However, I recently learned two things concerning my family that I never knew before.

a.) My mother's maternal grandfather was an Ashkenazi Jew from Germany. For some reason nobody ever mentions that he was Jewish; he has just always been referred to by my mother and her sisters and brother as "morfar" (grandfather in Danish).

b.) My maternal grandmother had a radical mastectomy in the late 1970s. She subsequently told everyone it had been "a mistake," and that she never had cancer. I don't believe it anymore.

I have two daughters and three granddaughters. They all need to know, I believe, how they stand genetically. As far as I am concerned, I think I need to know in order to make an informed decision about surgery once I'm done with chemo.

Am I being overly anxious? Any advice?

Thanks,

Camel Annie

PSK07

CA-

'twer me, I would. You have a background that would lend itself to there being a higher likelyhood.

Given what can be done with the knowledge, it wouldn't take long for me to decide to go for it.

If it was to know & there was nothing that could be done (like with Huntington's disease), I wouldn't.  

What keeps people from discussing the past?  

May the camels keep you safe.

AnnNYC

Hi Annie,

I think it could be a good idea.  I usually think it's better to have more information.  Informed consent forms for genetic studies say "anxiety" is a potential downside of learning you have a genetic risk -- but wouldn't your daughters and granddaughters (and my son, my seven siblings, and nieces/nephews) be "anxious" anyway, based on BC in the family?

Forms also always say there is a potential risk to "insurability."  If your daughters continue to live in countries that continue to have universal coverage, then that shouldn't become an issue.  And anyway, I think genetic testing for all conditions (and for purposes of "pharmacogenetics," to see which drugs and doses work best with an individual's genotype) will continue to increase exponentially -- and the insurance companies won't be able to find any customers who haven't been shown to have SOME risk.  I hope.

I think for your own peace of mind, it would be good to know about BRCA, in terms of monitoring the health of your breasts in years to come.

My onc recommended the test for me -- she's Jewish and assumed I was, based on my "phenotype" -- but when I said "German and Swedish" she said that Scandinavian and other island populations also have increased BRCA mutations in their gene pools, although not to as high a prevalence as in Ashkenazim -- and we both agreed that my German gene pool could include Ashkenazic forebears.  Anyway, my insurance covered it, and it turned out negative, which was a relief to the rest of my family -- and to my right breast and ovaries, I might add!

For you and ANYONE whose doctors or insurance companies think you don't need the BRCA test if you're not Jewish, this Sloan-Kettering FAQ page mentions the moderately increased prevalence of BRCA mutations in Scandinavia/Iceland: http://www.mskcc.org/mskcc/html/8623.cfm

and this Nature paper discusses a similar moderately increased prevalence in Scotland and Northern Ireland: http://www.nature.com/bjc/journal/v88/n8/full/6600840a.html

[P.S. AND -- for anyone else who has family history of breast/ovarian/prostate cancer consistent with BRCA mutation, even if you're from an ethnic group with a TINY prevalence of known BRCA mutation, if you have an indication for BRCA testing and you want the test, your doctor should order it and insurance should pay for it.]

[P.P.S. Women of African descent with BC before age 45 and/or family history of breast/ovarian/prostate cancer should also be tested.  In addition to the known deleterious BRCA mutations appearing at moderate prevalence in the African-American population, there are other BRCA mutations whose significance ought to become better understood through further testing. http://cebp.aacrjournals.org/cgi/content/abstract/13/11/1794 ]

Beesie

Annie,

With the family history that you describe, if there have been no other cases of breast cancer, ovarian cancer or prostate cancer within your generation (sisters, brothers, cousins) or within your parent's generation (parents, aunts, uncles), then I suspect your risk to be carrying the gene is probably pretty low.  Although not everyone who has the BRCA mutation gets one of these cancers, the cancer risk is very high so it would be unusual to have a situation where the gene is present through a couple of generations but there have been no cases of these cancers (unless you have a very small family with no aunts, uncles, cousins, etc).  This is not a gene that skips a generation - you either have it and you can pass it along to the next generation (there's a 50% chance that each child in the family might inherit it) or you don't have it and you can't pass it along.  Even if your materal grandmother had the gene, if your mother didn't inherit it, then you can't have it. 

Having said that, my advice is that you talk to a genetic counsellor.  A genetic counsellor will be able to look at your family history and determine if you are low risk or high risk to be carrying the BRCA gene.  He or she can explain much better than I did how the gene is inherited and the associated cancer risks.  He/she will be able to explain the implications of testing positive for both you and your family.  Then, once you have a risk assessment and you understand the implications, you can decide whether you want to be tested or not. 

HeatherBLocklear

Thanks to all for the precious information. You women are an astonishing trove of knowledge! I had no idea that we Scandihoovians are also at increased risk. Beesie, good idea to talk to a genetic counselor, but I think I'm going to go ahead and request the test. More reasons: my dad died from prostate cancer, my first cousin on my mother's side had ovarian cancer in her 20s, and I wonder if my paternal grandmother didn't die from metastatic breast cancer (COD was officially "intestinal cancer"; triple negative typically seeds first to the viscera). I'm now wondering if I don't have it from both sides.

Yep, going to ask. I need to look out for my little ones.

Thanks again and love,

Temporarily Bilobed Annie

Beesie

Ah, that additional family history could certainly increase your risk.  I had risk on both sides of my family too - my father & his father with prostate cancer; my mother & her sister with breast cancer and their mother possibly with ovarian cancer.  In talking to the genetic counsellor, she agreed that the history from both sides of my family warranted the test, but she also told me that in looking at my siblings, aunts, uncles and cousins, overall my risk was relatively low.  So I took the test and it turns out that she was right.  I tested negative. 

Definitely have the test if you feel that you should, but I'd still suggest the discussion with the genetic counsellor.

AnnNYC

Beesie, you're right about genetic counselor -- in fact, in the medical center I use you always have to see a genetic counselor before a test is ordered, in large part so you understand the significance of the potential results (including "psychosocial significance" like anxiety about disease and insurability issues).  I think that might be standard practice in the U.S. in general?

leaf

I found the information given to me during genetic counseling VERY VALUABLE, even though it ended up I had a low risk of being BRCA positive, and have so far chosen not to be tested. (I don't have offspring, and the counselor said my results would NOT affect the recommended screening of my sister.)



I would go to a place where they have board certified genetic counselors. For me, they told me my risk of being BRCA positive was probably about as much as the 'average' Ashkenazi woman, IIRC about 2%.



They also screened me for other genetic defects I had never heard about. That was what was really impressive to me.



They also go through the psychological consequences and insurance consequences, as Ann NYC says.



They should not pressure you one direction or another for genetic testing.



I asked my relative (a genetic counselor, but not for cancer) about whether or not I should pay for the visit myself. She said many people choose to pay for it themselves, then if it turns out negative, they bill their insurance company. This was in 2006, and I don't know the current state of affairs, or if what my relative said was correct.



I'm not trying to tell you how you should handle payment. But I think if your insurance company doesn't pay for it, they have less rights to see the results. Even **if** insurability does become an issue.

otter

Hey, Annie/Camel Breath--

(I am going to stop that.  I don't even know if you smoke!)

I agree with Beesie, AnnNYC, & leaf about the genetic counselor.  Where I'm being treated for BC they have a huge medical genetics program.  I have a consult there, scheduled for later this month.  They won't even authorize BRCA testing without counseling first.

One of the reasons is that testing might not be warranted.  Apparently, they can do a pretty good job of calculating the likelihood that somebody will be BRCA positive (1 or 2 I don't know), just by a close look at the family tree with applicable details.

Also, there is concern that people are requesting genetic testing and then they don't know how to deal with the results.  If they're positive, they panic; if they're negative, they assume there is no risk.  Now, I know we're all smarter than that, but some people aren't.

Anyway, I'm voting for counseling-then-testing.

otter 

HeatherBLocklear

Dear Otter,

You can call me Camel Breath as much as you like -- for me it's a compliment, hah! No, I don't smoke, but I do like my wine. :-)

The funny thing is that my medical team has apparently already submitted a request to my insurance company. They asked me right off the bat if I wanted to be tested; when I said I thought it might be a good idea considering my daughters and granddaughters, they apparently went ahead and sought permission right there and then. I'm glad. I've always operated on the principle that what I know about, I can deal with.  The things I don't know about are the ones that are likely to trip me up and defeat me.

As far as the issue of insurance being denied to people with genetic mutations is concerned, some HMO is going to try it eventually. However, I don't think they'll get away with it; especially not after the recent scandal with the young woman who was "fired" by her insurance group when she was diagnosed with breast cancer. I can't remember how many millions the courts awarded her, but it was a bundle! I hope she donates a portion of it to BC research ...

OK, I'm rambling. But I'm glad the test will be done (if my insurance says yes).

Hugs to all,

Camel Breath