BRACAnalysis Results

I am going for genetic testing on Friday for the sake of my daughter (30) and sister. My brothers and son will be vigilent, but the others didn't worry until they met with their own doctors and were asked to get me tested. I have already had a hysterectomy, like you, but that doesn't necessarily mean our ovaries are gone. Seriously. On ultrasound they can sometimes find my left one, but my right one was removed before I even had children years ago.

Four and a half years ago I had a double mastectomy for breast cancer. Trust me when I tell you that you will find LOTS of you that resembles a woman!!! I feel very, very sexy when I feel silky clothing brushing gently over my chest wall. I am still 100% woman. It's all in your attitude. Good luck, sweetie!

Did you have genetic counseling prior to testing? I highly recommend anyone testing get genetic counseling before and after. A genetic counselor can explain both the impact of a positive AND a negative test (because, even if you were negative you would be an uninformed negative, rather than a true negative and with a family history and personal history you might not be "in the clear"). And, yes, while Ashekenazi Jews have a higher risker of carrying one or more of the three founder mutations, there are MANY mutations that can show up in all populations (and there are other founder mutations amongst French-Canadians, Icelandic, etc). It is not just a Jewish thing!



The nurse, in my opinion, is somewhat inappropriate in how she is telling you by not telling you. Please discuss your results with either a genetics counselor or a medical genetics expert!



Even though you believe it is positive, I am hoping for negative results for you.

barbe,

I don't think the genetic counsellors "scare you" (neither of the ones I have seen were scary, though one was definitely not very BRCA knowledgable and gave pretty terrible advice to my mother (a survivor) and myself, IMO...the next one was much better!). I think they just want to make sure you understand what either a positive or a negative result would mean for you AND your family (including your brothers and your son, who if carried a BRCA mutation would also have certain risks for themselves, and could pass down the gene to their own children), and in Canada of course they are also looking at whether you fit your province's guidelines for your testing to be covered by provincial healthcare  

Since you have had BC, a negative result for example would not necessarily mean your children had no risk; depending on family history (ie you are not a sporadic case) and their personal history, your daughters can still be high risk and a risk assessment can still be done for them. A positive result for you would mean a 50/50 chance of having passed it on to your own children (and your brothers may also have the mutation), but it also means, depending on the mutation, you may still have other risks. Breast and ovarian are the common ones, but there is also an increased risk of peritoneal cancer, pancreatic cancer, melanoma, etc. But a positive result for you and a negative result for your own children would mean that they have the "normal" risks (such as 12% bc, <2% ovarian, low risk of male bc, etc).

While it is a pain to have to get the counselling up here if you want to have it covered by provincial healthcare (and every province is the same that way) it is also very beneficial. I have seen more than a few people in the U.S. test without seeing a genetic counselor (their doctor just drew blood) and many times they don't understand what results mean, or their doctors don't even understand what they mean and they pass on some rather terrible advice or don't deliver the results very well! That being said, if you get turned down for testing and still want to test, you can coordinate with your doctor a test through Myriad or Ambry Genetics though it will cost you out of pocket! (over $4,000 for Myriad, $2,200 with Ambry Genetics).

Hi, I just went through this, I live in Ontario. I have triple negative, I am 54 and adopted with no knowledge of hereditary issues. I was declined testing based on (get this) lack of hereditary breat cancer. They are assuming I don't have any blood relatives with cancer because I don't know, but I'm pissed off because what if I do? I really regret being honest about being adopted.

slv58,

I am sorry to hear you were declined! Every province is different and there seems to be a real reluctance for them to pay for testing in anything but the most obvious of cases (and I don't know what Ontario's guidelines are). 

It puts you in a bad spot. You have a triple-negative cancer which is often indicative of a potential BRCA mutation (commonly a BRCA1 mutation). And you have an unknown history and I am guessing no way of knowing that history. Those to me are factors that require some flexibility from the norm. 

I can relate. I went to my mother's genetic counseling session soon after her dx. My mother was dx'd at under 50. Her mother had bc - first found at 48, then a dx at 54 (died of bc mets at 60). Both my mother's maternal and paternal grandmothers had had bc...her maternal grandmother died of bc mets at 70-ish (no dx beforehand), and her paternal grandmother had bc at 60-ish, and died of colon cancer mets at 81. The counselor we had ALSO looked at her (and me) and said "lack of hereditary breast cancer". Why? Because my mother had no sisters, my grandmother had no sisters, and while both grandmothers had some siblings that died in their 50s and 60s, their health history is rather lost to time since my mother at that point was the oldest living relative in her family at 48! And at time, my sister and I were both in our early to mid 20's. She was denied testing on basis her history was not strong enough despite a known direct link through three generations including two cases of earlier onset cancer.  I was told I was not a candidate for the same reason of not having a strong enough history. For the last 7 years I have stressed about it more and more. I knew in my heart I was not "average risk" but this genetic counselor told me I was!

I spoke to a new genetic counselor recently (not in Manitoba) who was rather aghast that we had been turned down for testing! She took into account my smaller family size, my male-dominated family size, and so on as well, knowing that the "traditional models" may not work for my family. Unfortunately, my province still prefers to test the affected person as much as possible and my mother now won't test, and while I would be "recommended", the province really, really does not like to test those who aren't affected. I am still working on it! For now I just have to go by my risk assessment based on family/personal history which puts me into a high risk category. It is frustrating though as even a BRCA-negative uninformed test will provide me some information about ovarian risk and such so I would prefer to have it done, and of course a BRCA+ test will also be informative for me.

Do you have option of paying for test? Your doctors can coordinate it with a US lab. I mentioned Myriad and Ambry above, but I understand DNATraits also does a test for about $1,000, but I think this only looks at BRCA1 and 2, and does not look for deletions or variants if nothing is found on BRCA1 or 2 (like Myriad's BART testing).

So I did qualify and got tested yesterday. Due to back-ups (thanks Angelie Jolie!!) results will take 2-3 months!!!!

Peritoneal cancer is not part of the BRCA risk, I was glad to confirm.

She said she'd leave the results on voicemail as I seemed pretty knowledgeable and calm about the whole thing. I'd then be referred to a larger centre in Toronto for further evaluation. Ta da!!! I did it!!

Peritoneal cancer is definitely a known BRCA risk, unfortunately, so I am not sure why you were told it is not, barbe. It is also a "red flag" along with fallopian tube and ovarian cancer since none are "common" cancers.



2-3 months is actually not bad in Canada. And it just means more people who qualify are getting tested...not a bad thing!

shorfi, this is a WONDERFUL site full of tons of links and threads of all sorts of interest. I had a double mastectomy and still worry though. I get scanned a lot as we're vigilant for mets, so it's not a free pass. I could also get a recurrence in my armpit lymph nodes, clavicle or sternum. I am very happy with no breasts as my large (reduced!) breasts were killing my neck and back. Be sure it's what you want. I didn't get recon, either.

Ladies, I do see the link with peritoneal cancer!! So strange!! I asked a number of times, too. She was VERY young so you would think her training would be current!! I hope she asks a colleague about my question.

The above post from sshannonssmith spam.  DO NOT GO TO HER LINK.  She even had the nerve to post this same garbage in the Stage IV forum.

Very interesting....I am of French-Canadian descent and just underwent testing. I inadvertently assumed too that our family was less of a risk until we had a positive BRCA1 finding. This is the first time I have seem French-Canadian mentioned.

barbe1958:

Eight founder mutations (4 in each of BRCA1 and BRCA2) have been identified amongst French Canadian populations:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1377544/ 

Full text:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1377544/pdf/9792861.pdf