Need advice on BART

Sahar

Hello ladies,

I don't even know how to begin with my question. I'm so confused and lost!

I don't have bc but might be BRCA positive since my mom is BRCA 1+ and had bc (DCIS) in 2010. After 3 years of thinking about BRCA testing for myself, I finally did it yesterday! They drew my blood yesterday and the sample will be shipped to Myriad next week. When my mom was tested in 2010, Myriad ran BRCA 1 and 2 sequence as well as the 5 site rearrangement, but no BART was done on her. Through that test, she was found to be BRCA 1+. Now the question is: what kind of test should be ordered for ME to get the most informative result. For sure, I have to get tested for the same mutation they found on my mom. However since BART wasn't done on my mom, we are concerned that my mom could have more mutations that could have been detected if BART was performed but because it wasn't, they weren't found. This means that I wouldn't get tested for those additional mutations because we didn't detect them. So the genetic counsel suggests that BART should be done, but the question is: on who? on me or my mom?? we think it should be done on my mom but the problem is her insurance will not cover it because it is not really medically necessary for her to do the BART. She was found BRCA1 positive 3 years ago and her insurance paid for her test, now it doesn't matter if she has only one mutation or multiple mutations, this will not change anything for her, the only benefit of doing BART on her is for me, my sister and my children and her insurance doens't care about us, why would they pay for this test to benefit somebody else other than the insurance policy holder.. then the genetic counselor said let's do it on me. But I'm concerned we wouldn't get an informative result if we do the BART on me. I'm sure you all heard that the best and most informative approach is to test somebody who already had bc, in my case, my mom. So wanted to get your opinion and see what you think. Do you think, in fact, my mom should be tested for BART instead of me? If so, I have no choice other than paying the $700 out of my pocket for my mom's BART test. If my mom's BART comes back negative, I will only be tested for the mutation that was found on my mom in 2010. IF more mutations are found on my mom's BART, I will be tested on those new mutations as well. I hope my story and my question make sense.  I greatly appreciate any input. 

BayouBabe

You should do the test on yourself. In case you inherited any thing from your father's side, you will then have that info as well. Your sister should also have the test. I, personally, do not see any further benefit for your mother, as I am sure as a survivor, she is already medically being watched more carefully. Even if she tests, you yourself, would still need to be tested.



Being BRCA + myself, my kids will get testing when they are of age. I will not seek any further testing. My kids will have the most up to date tests at that time.

Sahar

BayouBabe, thank you for your reply. There is no cancer on my father side, except couple of his cousins who are considered distant relatives to me. My paternal grandmother is 84 and my paternal grandfather is 91 with no cancer. My father has 5 siblings, 1 brother and 4 sisters, none of them, nor any of their children have cancer. So we are confident that we wouldn't get the gene from my father side. In opposite, my mother's side, with huge ovarian and breast cancer history. 

I'm curious to know whehter or not one person could carry more than one mutation. My genetic counselor told me that one person cannot have mutations in 2 BRCA1 or 2 BRCA2 but can have mutation in one BRCA1 and one BRCA2 at the same time. That's why they think it is still necessary to do the BART for my mom or me. Again the reason they recommend it for my mom is not for her benefit, it is actually for my benefit. They think my mom's result would be more informative for me. If they had told me that one person could only have mutation in one gene, we wouldn't have sought any further testing because that one gene has already been detected but I am told that there is a possibility of multiple mutations and since my mom didn't do the BART, we think BART should be done to detect those additional mutations (if any). 

BayouBabe

Please do not be confident about which side the mutation is coming from. BRCA is sneaky. I was totally expecting the mutation to be coming from my mom's side, but it is now looking like we were wrong. Won't know for sure until more relatives are tested. Mom is passed away, and dad won't test.



I still don't get why it would be more beneficial for your mom to test over you. Even if she tests, you would still not know about your inherited genes until you tested. ( you only have a 50% chance of getting anything from her, so you would still not know if you had it.) I am confused. Isn't the testing for your interest and health choices? How would testing benefit your mom more than you at this point?

Sahar

BayouBabe, you might have heard that when people decide to start genetic testing in their family, it's recommended to start with a family member who is more suspected to have the mutation. Once the mutation is identified then other family members are tested for that mutation. 3 years ago when my mom was diagnosed with BC and we wanted to test her for BRCA, they didn't start the test on her, they asked us to bring my cousin, who was young and had OC, to test first and then they tested my mom on her mutation. Although later we requested a more comprehensive test for my mom. So that's the reason they want my mom to do the BART first not me. Even though it's for my interest but they believe my mom's test will be more informative because between me and her, she is the one who more likely has the mutation that BART might show. If they don't find the mutation, they won't test me for BART but if BART shows a mutation on her, they test me for that mutation. Hope this makes sense, kind of confusing!

Mutd

Sahar, the closer is the relation, the less likely it is for the relatives to have different mutations. Your mother had a different mutation than her cousin, but it was a 3rd degree relation between them. And especially if there is no cancer in the parents and grandparent which link the 2 cousins together on the family tree, then it becomes less likely that the same mutation is responsible for their cancer.

Your situation is different. 1st degree relation there. If you aren't concerned about cancer history on your father's side then you only need to get tested for your mother's mutation. Having two BRCA mutations in one person is extremely rare, and in most situations impossible. So if your mother is already positive for a real mutation, then she doesn't deserve more headache with looking for additional mutations ... it's extremely unlikely and even if it is true then it isn't clinically necessary for her because won't change her clinical management recommendations.

Sahar

Mutd, thanks for your reply. That's actually what I wanted to know. I needed to know the likelihood of my mother for having two mutations. One mutation has already been identified and I was thinking that by doing BART for her we maybe able to identify additional mutations and then to test me for ALL the identified mutations. Thinking of missing any mutation scares me.

Since I'm going through the gene test for my mom's mutation, do you think it's necessary for ME to do the BART test in addition to the single site analysis on my mom's identified mutation?

Mutd

Sahar, I don't think it's necessary for you either. To what extent is it unnecessary (the answer is never "totally" but kind of close to it, and then there is real money involved too), that depends on specifics of the case.

One thing to consider is ethnicity. Some ethnic groups (like Ashkenazi Jews) have common "founder mutations", and if it is your anecstry then you may be better off getting tested for all mutations in the founder set, rather than for the one which has been already spotted in your family. But are there any ethnic groups with "founder-mutations" of BART type? Mexicans may be such a group, although their founder BART mutation isn't nearly as common as the 3 Ashkenazi Jewish mutations.

Another thing to ponder is family history, how well does the known mutation(s) explain it? When someone has much cancer history on both mother's and father's sides of the family, then it's becoming a bit more likely that there is more than one mutation in play.

Then, specific details about the familial mutation matter. Most BART mutations are in BRCA1, and two mutations in BRCA1 generally kill in the womb, so if someone has a BRCA1 mutations than looking for something else with BART is useless. Etc etc. Details do matter, and a Genetic Counselor may help with the details, but the difference is in the shades of very low probabilities, how low is very low. In the end the answer may not even matter, it's still too low to do anything about it. In comparison, with the mutation of your mother's, you probabilty of inheriting it is very high, like a coin toss 50:50, and this specific-mutation test is what really matters.

PS: I see that your GC thought that you should go for it, from your post in another forum. Possibly the GC found some worrisome bits in the details. If, with GC's opinion in hand, you can get the insurance to cover it, then absolutely, do go for it. It may not be worth BART's full cash price, but probably worth the copay!

Sahar

Mutd, thanks for your detailed explanation. I'm going to have another discussion with the GC, hopefully tomorrow. On the other hand I'm checking with my mom's insurance case manager to see if they cover it. I'm almost positive that they won't but I just want to cover all the bases. I also called Myriad, they said they have some criteria for BART free of charge but we need to send the notes to them to see if she meets the criteria. I don't think she will meet the criteria because I know that my mom doesn't meet some of their criterias: testing negative on the initial test, bc before age 50, etc. so I guess I really need to talk to GC one more time to find out from her how important it is for us to pursue the BART. It's intersting that you mentioned "two mutations in BRCA1 generally kill in the womb"! I asked the GC, what is the likelihood of one person carries multiple mutations? She said babies can't born with 2 BRCA1. People with 2 BRCA2 mutations have severe diseases and syndromes so if a person doesn't show any severe problem, it means there is no multiple BRCA2 involved. The only possibility is having one BRCA1 and BRCA2 mutations at the same time and I'm surprised that you said BART usually looks for BRCA1 mutations because the GC told me the reason for BART for us is to find out if there is any BRCA2 for my mom because she can't have another BRCA1 since she already has one BRCA1 mutation.

Sahar

Mutd, by the way, we are not Ashkenazi Jew or Mexian.