Genetic testing question ...

JJ - Divecat might have some insight. Also you might try reposting in the High Risk forum. Good luck

JJOntario,

Yeah, testing in Canada can be a PITA. Since it is covered via universal healthcare, they can be pretty "strict" on the criteria. I have had 2 genetic counseling appointments in Canada, due to a strong family history of pre-menopausal and aggressive breast cancer, and while both declared me high risk (at about 40%) and both thought I would benefit from BRCA-testing, both said that unless my mum tested first, I was out of luck. My mum was not interested in testing (for lots of complicated reasons including how they also jerked her around first time she went to a GC in Winnipeg when she was newly diagnosed). My grandmother had two cancer diagnosis, one in each breast at different times, but she died of MBC and I can't "confirm" that each was a "separate primary". Essentially, they both told me that once my mother was dead I might have better luck (yeah...nice, and unfortunately that will be the reality as she does have MBC). I have a small family in terms of females at least (no aunts, great-aunts, just mother, grandmother, 2 great-grandmothers, who all had BC and three of who had/have MBC).

I ended up going across the border to Montana. Took my GC results in hand, met a GC down there (who was fantastic) who gave me ANOTHER risk assessment for hereditary risk and I paid out of pocket for the testing. $1,500 is a bit of a deal if you can afford it...I paid over $3,000 USD at time for my test, and I don't even want to think what that cost would be in Canadian dollars right now with our dollar! I wanted to know for me, but also for my younger siblings.

I tested negative for the BRCA-mutations by the way. I was still assessed as high risk though as I am considered an uninformed negative, and they go by my family history (still have a 40% lifetime risk, well, until my PBMX, which takes that down 90-95%). So, I was able to still qualify for high risk screening and preventative measures on a case by case basis as in Alberta you are considered in the high risk category in the clinical guidelines at 20-25% lifetime risk. There is no known ovarian cancer in my family so I just try not to worry about that. I do take BCP as that is supposed to reduce risk of OC.

As pointed out above, 90% of BC is sporadic. Of the 10% that are hereditary, only about 25% are due to BRCA mutations. So it is not common. Other hereditary causes may be due to other mutations (i.e. PALB2, Lynch Syndrome, etc) or polygenic factors. All my GCs have said there is "something going on" in my family, they just don't know what at this point. Maybe one day we will, maybe not.

When I went for GC and was tested, they thought that I would not meet the criteria because there are no breast cancers in my family.  Actually, no cancers at all except for me.  My father has passed away and had no siblings and that was the ticket for me to get tested.  They said that they could not verify that there were or were not genetic components on my dad's side so they agreed to the testing.

inks -  My onco did the BRCA gene testing becaseu there was so much cancer in my family.  Myriad did the testing which came back negative, but my insurance denied the claim because they said I didn't have genetic counseling first.  The test was 4,000.  I said I had BC and a MX why would I need genetic counseling.  They just said it's the criteria they use in order for the test to be approved.  thank God I'm not responsive for that bill since Myriad was supposed to get authorization before processing the test which they failed to do.  My mom has Stage IV BC now (well, technically she had it b4 me but just ignored the lump).  I'm not sure if the onco will do the BRCA gene testing or not but it really wouldn't matter because mine was negative and they said that could happen that she would be positive and I would be negative. 

I met with a genetics counselor not because of family history, but because my BS was concerned about my cancer being bilateral. As the counselor mapped out my family tree, we both agreed that something was and is going on with my mom's side of the family. Her grandma and sister died of BC. I have four cousins (out of 10 grandchildren) who have or had cancer. In addition, my mom's brother was recently diagnosed with thyroid cancer. The genetics counselor was guessing I had the PTEN mutation.

A nurse took a blood sample and it was sent to the lab, but was not processed until the insurance company approved. I forget how many mutations the screening looks for. 20? Anyway, to the GC's surprise, the test came back negative for everything. My cancer is a fluke, I guess.

Divecat - I guess I am not all that up to date with pop culture.

MelissaD - thanks. I think maybe I got only tested for BRCA because that was staring us in the face. My grandmother with colon cancer did have cervical cancer first. But I keep telling myself that perhaps she got the colon cancer after having radiation for the cervical cancer, it was long time ago.