To Test for BRCA Mutation or Not?

geekyknitter

Forgive me if I ramble a bit here.  I've avoided facing this for years and am kind of working through a lot.

I come from a family with a pretty extensive cancer history, but it looks like it's unlikely that I will qualify for insurance to pay for BRCA 1 or 2 testing.  On my mother's side, she has had precancerous tumors removed since her 20's and a full hysterectomy at age 27 due to a benign tumor, but has not had BC or ovarian cancer, so her side is less troubling than my father's side.  On my father's side, he is an only child with only minor skin cancers removed, but in my paternal grandfather's generation, out of 11 children, there were 7 women (my great-aunts) who died of breast cancer and one that died of ovarian cancer.  Each of them was diagnosed rather young, below 50 years of age.  There are no other female descendants of these women to test and few male descendents, either.  My brother died of an unrelated cancer a few years ago.  (First Hodgekin's Disease, then kidney cancer later on...I realize both of these are unrelated to BRCA mutations.)  Other great uncles died of lung cancer (again, I know this isn't related to that mutation, but it kind of sets the stage here.  I feel like I grew up surrounded by cancer.).

Which leaves me with no first degree relatives with breast cancer or ovarian cancer, mostly because so much of my family is simply gone.  For my part, I do what I can to reduce my risks.  I'm 36 and in good shape, but I have very dense breasts.  I had my first diagnostic mammogram and had to have a lot of images taken to rule anything out, but I have been told it is clear.

I'm considering looking into the BRCA mutation testing partially because I'd like to get a head start on any problems if there are any rather than simply wait and hope my screenings will catch anything early, particularly since my breasts are tough to see through in an mammogram.  I'm also wondering if my getting tested might help my brother's daughters and my own daughter.  I realize that it wouldn't rule out any other genetic factors and that it has both positives and negatives, but I was hoping someone here could offer some good advice here since I might end up having to pay for this testing out of pocket if I want it done.

Thank you all in advance for wading through all this.

Galsal

Although I didn't fit the guidelines for Brca testing, I did a detailed diagram of the family history of Cancer and showed it to my Internal Med physician.  He argued with the insurance and testing lab for several months until it was approved to be run and that the insurance would cover it without the lab requiring payment up front, etc.  Thankfully my Int Med advocated for me about this. 

geekyknitter

I think that is certainly worth a try.  I plan on talking about it with my OB/GYN when I have a follow up appointment about my mammogram.  I feel so fortunate that it turned out to be clear, but I'd rather be more informed next time around, I guess.

DiveCat

My suggestion is to actually see a genetic counselor to assess your risk, and if BRCA and/or other genetic testing is recommended for you they can also deal with your insurance company (coding and all that jazz that as a Canadian I do not know much about personally but know enough about second hand). While first degree relatives are a factor, it is not always necessary by any means. They will take a pedigree (your family history) to assess whether it seems like a BRCA-mutation or other hereditary mutation may be present.

Generally they prefer to test an affected relative first to make your results more informative (if you were negative) or to narrow down the testing but obviously that is not always possible. Genetic counselors can also help you understand the meaning of your results (like a true negative versus an uninformed negative), provide you a risk assessment based on history and personal factors, and potential screening and risk-reducing options. For example, MRIs rotated with mammogram/ultrasound may be a good option...MRIs are more sensitive for dense breasts (though do not pick up calcifications).

I cannot emphasize the importance of a genetic counselor enough. Very important before and after...do not go through your OB/GYN here...though they may have a referral for you. You need a genetics expert here as it there is much more to it than just a test (and positive or negative results). For example, it is important to know that if you were negative and say there was an undiscovered mutation in the family, it does not mean your father is negative, or in turn your brother is, or his children would be negative...though your daughter would be negative. So a negative result would not give clarity for your father, your brother, or your brother's children.

If you do have to pay, there are more lab options now that the patent is gone, some more affordable than others. Your genetic counselor can also review your options here with you...some labs offer discounts for self-pay. I went to US for testing, paid out of pocket, and received a discount myself. I am an uninformed negative, but am still happy I did the testing even if they do not provide me much certainty!

leaf

I sure agree with DiveCat.  I didn't have anywhere near the family history that you have, but was referred to a board-certified genetics counselor because my grandmother had breast cancer and my grandmother had no daughters.  It ended up her breast cancer was after the age of 50 and I was at low risk for having a BRCA mutation. (I chose not to be tested.)  

Even though the USPTF guidelines don't talk about great-aunts, I think it makes sense to talk to a board certified genetics counselor and see what they say.  After submitting my family history, they gave me an estimate for having a BRCA mutation.  (In my case it was about as high as an _average_ Ashkenazi Jewish woman, about 2-4%, if I remember correctly.) I learned a lot from my counselor even though I chose not to be tested. If I remember right, I paid about $300 for a ~45 minute appointment about 5 years ago.  Obviously, it took some  extra time for them to analyze the ~10 page questionnaire.

Although there currently are no standardized referral criteria, women
with an increased-risk family history should be considered for genetic
counseling to further evaluate their potential risks.

Certain specific family history patterns are associated with an increased risk for deleterious mutations in the BRCA1 or BRCA2
gene. Both maternal and paternal family histories are important. For
non-Ashkenazi Jewish women, these patterns include 2 first-degree
relatives with breast cancer, 1 of whom received the diagnosis at age 50
years or younger; a combination of 3 or more first- or second-degree
relatives with breast cancer regardless of age at diagnosis; a
combination of both breast and ovarian cancer among first- and
second-degree relatives; a first-degree relative with bilateral breast
cancer; a combination of 2 or more first- or second-degree relatives
with ovarian cancer regardless of age at diagnosis; a first- or
second-degree relative with both breast and ovarian cancer at any age;
and a history of breast cancer in a male relative.

For women of Ashkenazi Jewish heritage, an increased-risk family
history includes any first-degree relative (or 2 second-degree relatives
on the same side of the family) with breast or ovarian cancer.

About 2 percent of adult women in the general population have an
increased-risk family history as defined here. Women with none of these
family history patterns have a low probability of having a deleterious
mutation in BRCA1 or BRCA2 genes.

http://www.uspreventiveservicestaskforce.org/uspstf05/brcagen/brcagenrs.htm#clinical

clarkjennifer

BRCA1andBRCA2gene mutation testing can give several possible results: a
positive result, a negative result, or an ambiguous or uncertain result.
A positive result indicates that a person has inherited a known harmful
mutation inBRCA1orBRCA2. GenoScreenBRCA1/2 Mutacion
Scan Kit is anin vitronucleic acid amplification assay for mutation
detection of BRCA1/2 genes in genome DNA from human peripheral blood
specimens.

Golden01

 I agree with the recommendation to see a genetics counselor and I'd encourage you to see one at a research-based clinic (like one of the National Cancer Institute centers -http://www.cancer.gov/researchandfunding/extramural/cancercenters/find-a-cancer-center). My oncologist was sure the insurance company would not pay for genetic testing for me (my Mom and five women cousins have BC) but referred me to a local genetics counselor. Instead, I made an appointment at a  university-based cancer center about two hours from where I live. With their justifications, my insurance paid for BRCA, BART, and BreastNext testing with no out-of-pocket for me. The family chart mentioned is a really good idea. It is easy to create one at: https://familyhistory.hhs.gov/fhh-web/home.action

Golden01

Hot off the press -

http://www.uspreventiveservicestaskforce.org/uspst...

leaf

Thanks so much, Golden 01!  I'll update my bookmark!

DiveCat

Thanks Golden for the link!

Yes, it is important to note that BRCA mutations only account for 5-10% of all breast cancers. Even those with suspected hereditary breast and ovarian cancer often do not test positive for a BRCA-mutation. BRCA mutations only account for about 20-25% of hereditary breast cancers. My family is one with a strong hereditary breast cancer pattern but no known BRCA-mutation, instead we either are suspected to fit a polygenic model or have a yet unknown mutation. 

So the likelihood of a positive result is very uncommon in a woman whose family does not show a family history that would indicate a BRCA-mutation. Not impossible but very rare. 

paloverde

Absolutely, absolutely see a genetic counselor.  I was referred to one at Dx and qualified for coverage due to being Dx at younger than 50, even though no family history was apparent.  I came back positive for BRCA2, after the counselor told me how unlikely a positive result would be, and it turned out the mutation was hiding on my dad's side.  

My dad's side is very male - all brothers, etc. Going back a couple of generations, I'm the 3rd young BC Dx (30's, 40's).  The counselor had made note of those to support coverage of the testing, even though we're all distant cousins of each other, and also made note of pancreatic cancer in my dad's brother.  DRAW THE FAMILY CANCER TREE - that is the key.  As soon as I did that, the pattern lit up like a neon sign.  The same woman was grandma or great-grandma to all of us.  

If I'd had any idea of my BRCA status, I'd have had much more frequent screening and maybe considered a preventive BMX.  I ended up with a BMX anyway, and now Stage III treatment ahead due to the tumor being so aggressive.  Not everyone may agree, but I think it's always better to know.  The genetic counselor will navigate for you, including with the insurance.  They even had some template language available to assist with informing family members. 

geekyknitter

I called today and made an appointment to meet with a genetic counselor on January 7th.  I'm looking into research hospitals, but I live in a rather remote area (Alaska) so that might not be a possibility.  I'm planning to draw out my cancer family tree before I go, though.  Every time I've talked with someone in a medical profession about my family history, they've always recommended I get tested, so I'm hopeful.  I have also heard, anecdotally, that if you do end up not being covered with insurance, the out of pocket cost can be a few hundred dollars versus the thousands they can charge insurance, which is within our budget.

For years, I felt like I didn't want to know.  I worried that if my risk was confirmed that I would worry more or it would somehow effect how I lived my life.  However, after having my first scare and near-miss with a clear mammogram, I think I'd rather know and be able to be more proactive about reducing my risks rather than just hoping that I'm clear until I'm older and mammograms become routine for me AND that mammograms catch anything early, even with dense breast tissue.

Thank you all for so much great information and support.  When my OB/GYN brought up testing a few years ago, I remember a lot of misinformation being out there and fear.

rabbitvelvet

Geeky Knitter,

   I am counting the days until I see the geneticist and the counselor.   They sent me a family history to fill out, which I did, but when I talked to the counselor on the phone I got the impression that I would qualify for the test due to my family histories.  My biggest worry is my daughter.... I need to know what my BRCA status is so that she will be armed with the info that could save her life.

geekyknitter

So, a quick update.

I called my OB/GYN for my official mammo results.  They told me everything was BIRAD negative and the recommendation was to come back when I'm 40.  I still have the same symptoms which led us to send me in for a mammo, so it seems a bit odd to me that no one seems interested in trying to figure out what might be causing them.  I also asked if they had received a fax from the genetic counselor requesting a referral for a possible blood draw and they didn't seem to know anything about it.

Basically, I feel like everyone is acting like I'm overreacting and that I should just go about life as usual until I'm 40 years old, but given how many of my great-aunts were diagnosed in their late 30's and 40's, I really wonder if I shouldn't be getting more regular screenings?  It seems like if you have no close female relatives on the side with a strong history of BC or ovarian cancer, you're simply lumped in with all the people without a strong family history?

I'm still keeping my appointment with the genetic counselor, but I'm starting to suspect I won't qualify for testing and I'll be back to just waiting...and worrying.  I wish there was something I could DO rather than just wait to find a lump.  I also wish my breasts would stop hurting, but that's a whole other issue, it seems, and one I'm on my own with.

Evening primrose anyone?  

IllinoisNative

Well, I found out that I had the BRCA 2 gene after I got cancer at 36.  No family history.  In fact, I'm first generation BRCA 2.  I only qualified for the test because of my age.  Sure people say that only a certain percentage of people with breast cancer have the gene.  But too many people don't qualify for the testing (or can't afford it) to know for sure.