Genetic testing question ...

JJOntario

I wasn't sure where to post this question so my apologies if it's in the wrong place.

I went to a genetic counselling appt today as referred by my MO. I'm kind of frustrated. In order to be tested (and the test to be paid for by OHIP) I have to prove that BC runs in my family. I have an aunt who had BC at age 50 but...she only had it in one breast...(umx) and had her ovaries removed. If she had it in both breasts the test would be paid for. I just feel this is kind of insane. I have 2 daughters and I really would feel better knowing. Also, the criteria for getting into the OBSP (Ontario breast screening program) for high risk will not recognize my girls as being high risk based on onlyhaving a mother with BC. We can pay for the test..,$1500 USD. Am I missing something??? How does anyone find out if they are BRCA positive? I'm a little bit angry by all of this.

farmerlucy

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

inks

So sorry you feel frustrated. Breastcancers associated with genetic mutations are very rare, they account only 10-15% of all breast cancers. And since breastcancer is the most common cancer in women many people will have someone with BC in their family. However BC associated with BRCA gene mutations have some things particular about them and qualifying for the testing is based on those facts. In US you would qualify for the testing if you could snoop out one more reason for testing besides your aunt. In BRCA affected families the clues are fairly obvious that something runs in the family. Is your family fairly small? Did you also check your father's side? Sometimes there may be a generation in between where people passed away at a young age from other causes but they had already had kids. I understand that you are worried for your daughters but based on the info you have provided they have the same risk as general population. For example my grandmother and both her sisters had either BC or ovarian cancer and one of their daughters has ovarian cancer. You should be happy that your family does not have a history of BRCA associated cancers.

JJOntario

My family has scattered since both of my parents are gone. I really had to dig to even find out about my aunt as I find the older generations just don't talk/share. Without my Mom...it's even harder to get information. I just find it crazy that if my aunt had BC in both breasts it would be paid for.

I know the risk is low ...but this test would also cover colon cancer (my Mom and grandmother both died from it early..another "don't talk about it" cancer). As a mother ...you just want to know of ANY risk to your children.

inks

Bilateral breast cancer is tied to BRCA that's why it is used as a criteria for qualifying for the test. There must be a more newer test that you are referring to, since when I took the test they did not take into account my maternal grandmothers colon cancer. And I do know that BRCA mutation gives you double the risk of other cancers, but when you look into it further you will notice that by double they mean that when general population has a 0.5% risk of certain cancer then in people affected by BRCA it "doubles" to giant 1%, which in my mind is a very small risk. If there is a specific newer genetic test for colon cancer you should qualify for it by having to close relatives affected by it. If I were you I would pursue getting in touch and reaching out to your relatives, it may be hard but if you turn up something it may save someone from going through what you have gone through already and literally save someones life.

DiveCat

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.

DiveCat

inks,

Some of the tests, whether along with BRCA-testing, like the multi-genetic panels offered by Myriad, Ambry, or as standalone tests, now also look at other mutations. A history of colon cancer for example, along with breast cancer, etc, can indicate Lynch Syndrome (HNPCC). When I went through GC, they were also interested in whether my family history included colon cancer (it did).

ml143333

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

Thanks divecat! So this Lynch syndrome along with colon cancer needs to come from the same side of the family as BC? It's a different mutation from BRCA? I had no idea. They probably did not mention it to me since the BC and colon cancer are in a separate branch of my family.

And I know that this is off topic but since it's been over the news that Angelina Jolie had her ovaries out and Kelly Osborne will have preventative surgery since her mom had colon cancer. That they should use this opportunity to educate the general population. Even though I saw the news story about Kelly Osbourne I did not make the connection about colon cancer that her mom had - and the news story did not go on to elaborate on the subject. Maybe Sanjay Gupta will have something on it tomorrow on CNN, I like how he can explain complicated things in a simple way.

mjh1

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. 

DiveCat

I don't think Lynch Syndrome is at play with Kelly Osbourne? Kelly Osbourne is BRCA1+. Her mom, Sharon, who did have colon cancer, had a PBMX after finding out she was BRCA1+.

Sodie1017

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.

MelissaDallas

Inks, they tested me for Lynch before the did BRCA on me because my Dad's mom & sister both had colon cancer & I was just recovering from ovarian cancer surgery when they found my LCIS. I was tested for CHEK2 & PTEN & I think maybe another

inks

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.

DiveCat

Inks,

Ha, I am not either, I am the last person in the world who cares about celebrity gossip, I just remember Sharon speaking publically about her BRCA1+ status and PBMX. She's not as glamorous perhaps as AJ so it was not as thoroughly discussed in the broader media sphere. I have many thoughts as to why, but everyone was way more interested in AJs breasts, whether they agreed or disagreed with her decisions, likely as she has been created into a sex symbol, than the much older Sharon's breasts.