BRCA testing question

tangandchris

I kind of feel like this might  be a stupid quesiton, so please bear with me.

It was recommended that I do genetic counseling soon after my dx in 10/13, due to my age which was 39. I have put this off until now and talked to a genetic counselor on the phone today to get things started. She sent me the questionairre via email and after looking at it I wonder if this is something that is really neccesary. I don't have any family history of BC and limited history of cancer in general. Shouldn't there be some sort of family history that would indicate a possible gene mutation?

So, bottom line, is it possible to have a gene if I have limited amounts of cancer in my family?

Anonymous

Tang, I can only speak from my experience. I spoke extensively with a genetic counselor. He made it clear to me that they typically don't test unless there is a clear history of cancer in your family, due to the expense of the test. I had to give my whole family tree. I have a half sister and half niece that had TN BC - BC is very prevalent on their side - not mine. The only reason they tested me was because I was unsure of their BRCA status. I was told that if they had tested negative for BRCA, they wouldn't have tested me, because no one on my side had a history of cancer. Mine came back negative.

Edited to add: I'd be interested to know if all treatment centers follow the same criteria for testing. Again, I can only speak for mine, and what I was told regarding my own case after a long consultation, and an in depth questionnaire. At my treatment center, I was told they need justification for the test. I'm thinking they must have a reason for recommending it for you.

lekker

I can think of two instances where you'd have no/limited family history of cancer but could still carry a harmful mutation.

1. You developed a de novo mutation in utero. You didn't inherit it from one of your parents but instead you developed a mutation as the embryonic cells were dividing.

2. Very few genetic cancer syndromes have what's called complete penetrance, meaning that you can carry the harmful mutation but never develop cancer.  Even the highest risk BRCA mutations leave close to 20% of carriers breast cancer free without interventions.

A limited family history can be uninformative when people die early of unnatural causes or there are mostly males on the suspected side and the risks of male cancers are lower.  Also, the "other" cancers you mention in your family tree could be significant for breast cancer.  

Only you can decide if going through with counseling and possibly testing is the right thing for you.  The GC should be able to explain what factors in your pedigree raise red flags or what makes you look low risk.

tangandchris

Okay, thanks for the input. I know my insurance will cover it, so it's not so much of a money issue as a should I bother issue. I suppose I should take my doctor's advice and do it

lintrollerderby

I am BRCA1+ and had no family history. I didn't think I'd test positive, but I did and so did my daughter. I spoke to Myriad about de novo mutations and while it is exceptionally rare, it can and does happen. It's estimated that about half of one percent have a BRCA mutation and of that tiny number, less than one percent of those will have a de novo mutation. The most common reason for no family history in a mutation carrier is that it was able to hide, usually in small, male-dominated families. That was the case with me. There's usually history there, though it's just difficult to find hidden back in previous generations when accurate causes of death were not recorded and people did not get diagnosed with things and were assumed to have died of something different.

Lekker, good post. That would be incomplete penetrance, though. A mutation with complete penetrance means it always displays disease or clinical symptoms. Different BRCA mutations have different rates of penetrance. Some are quite low, while others are shockingly high.

BayouBabe

I am BRCA+ and had no family history ( other family cancers, but not the kind related to BRCA).  I am guessing they recommended the testing to you due to age.  I was told that insurance would cover it because I was diagnosed under the age of 45.  Glad I did.  I had a young cousin develop ovarian cancer about a year after my diagnosis.  Stage IV.  I am guessing that is the side my mutation comes from, as no one else would be tested.  It is a hard decision, but only you know what is right for you.  Good luck.

Cammychris

I also am BRCA+ with NO history of cancer in my family.  I was tested after my DX and I am happy I have this knowledge for other family members including my children.

kebab

I was tested after I was dxd one year and my oldest sister was dxd the next year. There was no other family history aside from our maternal grandmother. I tested positive. My sister passed away before she could be tested, and my mom and my other sister tested negative. My dad declines testing but has absolutely no cancer history in his side of the family tree. Weird stuff.

teddybear71

I have a strong family history. My mom, my grandmother and my grandmother's sister all had breast Cancer. I was shocked when they said I was BRCA negative. Even though I was negative, I still worry about my daughter getting this dreaded disease.

noonrider

My insurance denied coverage for testing. Even though I'm young (46 at diagnosis, which is still considered young for this type of cancer) I don't have any first degree relatives with BC. (I have a grandmother who died  of unknown cancer type - suspected BC but she died back in the 60's and nobody knows. And Grandfather and uncles with unknown cancer types.) Never mind that the mutation can happen at any time in a family. Somewhere there has to be a "first diagnosis" in a family.  But my SISTER?? She can now get tested because SHE has a first degree relative under age 50 with BC!  ME!

To me the testing is important. I have a daughter, I have sons. I have sisters and a brother. I wanted to test a little for me for me, but  also for my children and my siblings. 

sabihah

noonrider, I really don't understand why your sister would qualify but you don't.  Do you have different insurance carriers?

If you have the same insurance carrier, and she can get tested but you can't, someone in insurance land is being a dunce.

noonrider

Yes, we have completely different insurance providers. However, the guidelines for many insurance providers is they will co er testing if you have a family history of first-degree relatives, or relatives under age 50 with a breast cancer diagnosis. I have none of those. 

kwagart

I tested positive for brca2, the only family history is my older half sister (same mom), my mom's aunt and my mom's cousin. My family has many women so this does not seem like a lot of cancer.. Doctor was very surprised. If you are offered the test, take it, if my sister had taken it ten years ago, I might not have been recently diagnosed with stage 4 breast cancer.

At least I can protect my kids and future grandkids, I hope I get to see them.

Lzbth

I had DCIS Stage zero. I asked my published award winning NY sugeon if I should have the BRCA test bec I am an Ashkenazi Jew? She said "It's very expensive, insurance doesn't pay for it & you don't have risk factors" that is verbatim. I had a lumpectomy & then radiation. Then I had to go the oncologist who said I should get the BRCA test. I told her the surgeon in her practice said I didn't need it. When I went back to oncologist for six week follow up for tam old me a gain to get the BRCA test. I thought to myself "This doctor is never going to shu up about this test!" Well I got the test,insurance paid for it and I was. Positive for BRCA1. So I had a prophylactic double masectomy which I would have had in the first place, and no radiation which is making reconstruction problematic. The test was only $300 which I would have paid if the surgeon did not let me take. So for the small amount to pay t would have gladly take the test. So I definatly think taking the test should be done. Knowledge is powerful

Hopeful82014

This thread is helpful. Many thanks to all who chimed in. I've been second guessing my decision. To proceed with testing but now feel that it was probably a good decision.

In my case it wasn't a clear cut case (that seems to be the story of my life) but the GC said the history had enough red flags that she wouldn't dismiss the possible usefulness.

Lzbth, I can't believe the surgeon's ignorance and attitude. Geesh!

tangandchris

So, I go in for testing on Thursday and I'm getting really anxious about it. I finally sat my dad down to ask him about family history and he told me that he had an aunt with BC dx'd in her 40's and a cousin with BC dx'd in her 30's. Wow...that really floored me! He was so weird about it, like defensive almost. I told him it wasn't his fault if I do test positive. idk, that's his issue though right?

I didn't really think I had family history, but now I see that there is some and it scares me. I have 2 daughters and I'm worried about them

Hopeful82014

Tang, if it's any comfort, I had several closer relatives than yours w/bc and my PCP never treated it as though that represented any increased risk.

Your daughters' risk probably is due to your status (sorry) but, at the same time, it gives them a real heads up on getting ahead of the curve with surveillance, etc., at the appropriate time.

Good luck with your appt. on Thursday.

farmerlucy

tang - one step at a time. What test are you getting? My dil's mom is brca1 pos but dil is neg - there can be some benefit in knowing and being able to confirm it pos or neg rather than an unknown mutation.

tangandchris

As far as I know I'm getting BRCA...to be honest I have no idea what to expect or ask on this.

I know, one step at a time

((hugs))

wing48

I had the test done (with no family) history but had the test done because I was under 50 when I was diagnosed. I also have a teenaged daughter so I wanted to be able to share my info with her.

I was negative btw.

rleepac

I think I'm going to get tested for it.  Dx at age 42 and I believe I have at least 50% Ashkenazi Jewish ancestry.  No family hx of cancer on mom's side.  Dad's side is hard to tell because his mom died of stomach or ovarian cancer (depends on which family member you ask) and she only had 2 boys.  Dad had 4 uncles and they all had boys except my dad and his brother.  So I have 1 older female cousin (no hx cancer) and 1 younger sister (no hx cancer).  Dad died of prostate cancer at age 62.

So, I have a few risk factors and a lot of unknowns because of so few women on dad's side of the family!

But, for my younger sister's sake and the sake of my 13-yr-old daughter, I think I'll get tested for it.

larod825

Ok, so my wife's grandmother has metastatic endometrial cancer (age 58) and her mom had metastatic colon cancer (age 50). My wife received a BRCA1 VUS so the test is headed out to Myriad. First test done at a Kaiser approved genetic facility. KP is paying for everything as the maternal family history is strong and she is only 37. She was dxed with HER2+, grade 3 BC. All other genetics were negative (lynches was the main concern) but seeing as endo and colon are strong for BRCA (per FROCE website) it seems like this VUS is suspect (obviously speculation at this point still). Anyone else run into something like this and have any advice or info I should be thinking about. We have three kids (2-girls and 1-boy) so knowing is very important. Also she has two living Uncles on her maternal side that could get tested, would that be helpful? Also she has two brothers, both have actively been tested for colon cancer with no polyps, should they be BRCA tested? I'll ask the GC as well as the VUS just makes thing a little more tricky Thanks... I'll touch base once we receive the results.

Alotte

Kebab, If he is your biological dad, and your mom tested negative, he doesn't need to be tested. He's positive because one of your parents has to be in order for you to be.

Sinthea

Hello Everyone~

I am new to the forum and new to cancer. It was a fluke that I was diagnosed with fallopian cancer which metastasized to my aortic lymph nodes. I've had total removal surgery and am currently undergoing chemo. carbo/taxol. This has all happened very quick;y and I am still learning so please excuse my ignorance. I am trying to learn. I was asked to test for the BRCA gene which I agreed to not realizing the significance, I am positive. My daughter needs to test now as well. My writing is about what to do next? Should I go and have a double mastectomy before I get breast cancer? This is very emotional for me as I am sure it is for all of us. So please remember I am new to cancer all these chages and terms. Can someone just please give me some guidance? xxSinthea

BayouBabe

www.facingourrisk.org Please go here for more info. I am sorry you are dealing with this on top of everything else. Knowledge is power, and learning more about BRCA will help. Sending you hugs

Sinthea

Thank you!

Anonymous

Glad to see this thread on BRCA testing. My story is: am 6 years out from dx, was in the "gray" area between periods and menopause, had 4 rounds AC, 4 rounds taxol, 33 rads and have been taking tamoxifen for over 5 years. Last checkup w/onc she wants to switch to an AI, (have been menopausing since chemo 6 years ago) but also told me I could talk to their genetic counselor free of charge to see about doing the test. I have 5 "second degree" relatives on both mother's and father's sides. According to my plan's guidelines, the testing would probably be covered. I can tell you that the younger you are when dix'd with BC, the better the chances insurance will cover, even if you have no "first degree" (mother, grandmother, sister) relatives with BC.

My onc says the cost of the BRCA should really come down in the future but don't know when -- could even be as low as $100. THAT WOULD BE GREAT !! She also said I may want to think about having ovaries removed, even though have been in menopause for 6 years, there must still be some concern about hormones. I think the main reason is because (1) the close relatives with cancer of ANY kind; and (2) if I test positive for the mutation, my 20 year old daughter may have a 30% (or higher) chance of developing BC.

Sinthea - I cannot tell you which way to go but with what you've been through, could you seek a second opinion about what percentage risk you are at now for BC?

Rleepac - I agree about getting tested. It just helps with all the adjuvent therapies too.

Peace - Shelly

scvmom65

Hi tangandchris,

I think they want to have you tested because of your young age and I look at it as a positive. As others have said, you can NOT have a family history and then still have it because the mutation starts in your gene sequence. Both my grandmothers were dx'd at the same age I was and both passed away before the age of 55. Most of my aunts on one side have the gene but I tested negative for both. The genetic counselor also told me that they do not have the technology yet to isolate ALL genetically responsible cancer genes, just those right now, so I still might have a genetic gene. I personally wanted to know because of what I might pass on to my children. Good luck to you!

Anonymous

Scvmom - you brought up a great question for me to ask the geneticist, about the possibility of other genes that mutate and cause BC, not just the BRCA's. Glad you were negative for the gene. My onc said I may want to do the test of course if it's covered by insurance and also because I have 5 second degree relatives dx'd before age 50. -Shelly