I'm the only one

jennyboog

I was dx in 2010 with IIIc BRCA1+.  I was the first and only in my family to get BC and then to find out I was BRCA+ was a huge shock.  My brothers were recently tested and results are in....they are negative.  Although I'm happy for them I can't understand why am I the only one or how that even happens.  My MO says I could be the begining of the mutation.  Anyone have any insight on this or are the only one in there family too? Thanks!

inks

Did your parents get tested? I always assumed you had to inherit the mutation but it does make sense that you could acquire the mutation just like we can acquire anything else. I have heard of stories when a child needs a transplant or transfusion and none of the close relatives are a match and later it turns out that mom had an affair.

krisnanbrandy123

my first cousin got breast cancer and found out that she had the brca1 mutation.  I got tested bad I too have the mutation.  Her brother is positive and one of my sisters is negative.  There is no breast ovarian or cancers of any type on either sides of our families going back four generations.  But my uncle and my father MUST have the mutation or it is not possible to have been passed on.  Chances are 50/50 if one parent has it that their offspring will too.

Bright pink.org and FORCE are very informative.  Hugs.  I hear you.  It is tough initially but I am doing great.  

lintrollerderby

In 2011, I was blindsided at age 34 with a diagnosis of Triple Negative IDC. My treatment team recommended BRCA testing because of my age and the TN status, but it was logistically very difficult for me to get counseling, testing, and follow-up because my cancer center was in another city, so I put it off. I felt ok with that decision because I was certain I had no mutation as there were no incidences of breast or ovarian cancers in my family tree. By late 2012, after treatment had ended, my then 19 year-old daughter kept pushing for me to test because she was very anxious that it could be genetic and didn't want to go through what she had seen me endure over the last year and a half. It had always been on my to-do list and my new medical oncologist offered it on my initial visit right in her office. I had the counseling and blood draw and 8 days later, the genetic counselor called me to say that I had a BRCA1 mutation. I was floored. Both of my parents are deceased, so neither could be tested. My father had died of a VERY aggressive cancer in 1998 when he was 58, and he had only known for 7 days that he had metastatic cancer. He was diagnosed by imaging and never had biopsies, so we have never known where the cancer arose. He came from a very small, male-dominated family that is Western European (Irish and English) in origin. My mother came from a very large Mexican family with only one incidence of cancer. My mutation is reported to be more prevalent in Western European populations, so I feel confident that I got it from my dad and it was just better able to hide. My daughter has since tested positive and had her prophylactic bilateral mastectomy with reconstruction last month. While doing ancestry research recently, I've discovered that one of my paternal great-grandmothers died of breast cancer, and even though that in itself doesn't raise any red flags, I think that she was possibly also a BRCA1 mutation carrier. 

BRCA mutations are almost always inherited, but there are confirmed incidences of de novo mutations when there has been confirmed paternity and maternity established. I've spoken to Myriad Genetics about all of this and they acknowledge that it does happen, though it is exceptionally rare. More often than not, the mutation has been there in the family, but was able to hide. This can be due to lots of reasons like male dominated lineage or early death from unrelated reasons. There's also the very real possibility that there have been deaths of breast and ovarian cancer back several generations, but it is just not known because it was never diagnosed or the information wasn't passed down to subsequent generations. Also, even though a mutation carrier has an exceptionally high chance of developing cancer, many never do. So, it is most likely that one of your parents is the carrier, but have been fortunate to not have cancer.

Best of luck. 

anneoftheforest

I only found out I was BRCA2+ in January of 2014 so I am new to this whole adventure   My mother and father are deceased and neither of them were tested.  My mom died of breast cancer at 48.  No ovarian cancer and lots of healthy aunts, uncles and cousins.  My aunt and sister have both tested negative.  I called Myriad and asked how many have tested positive for my specific mutation and they said only one ... ME!!  They said that wasn't very common to be the only one.  I'm positive someone in my family (probably my mom's side) has the mutation as well but it could be my uncles or my brothers.  I have heard of women that are BRCA+ and all their kids aren't or vice versa and all their kids are.  My GC said some families with low incidences of breast/ovarian cancer but have the BRCA mutation will have other genes in the mix that are cancer preventative and so cancer just won't come up as much.  That isn't a bad thing I guess

lalli

Yes, i'm the only one too it appears. I found out this fall (through a test with 23 & me) that i was a BRCA2 carrier. There has been no breast or ovarian cancer in my family. Neither my sister nor my 3 daughters have the mutation (thankfully!) , so its just me and feels very surreal. As i'm 56, I easily decided to remove my ovaries and tubes. Now I'm struggling with the decision to have PBM. 

I assume that it came through my father as his side of the family is Ashkenazi Jew....but its all very mysterious.

jennyboog

Thanks eveyone for your input.  I was floored to find out I was + and then to find out my siblings aren't was just even more weird to me.  I'm not sure of my lineage other than some Irish.  It made me feel like the lab had it wrong or mixed things up   Thanks again eveyone!

Kayrem

I also appear to be the only one with the BRCA 1 mutation in my family. So far my older brother and sister have tested negative. I have one other older sister but it appears that she probably will not be tested. I do not believe she has it. She is 54 and has not had any cancer related issues so far. My paternal grandmother died at 54 from ovarian cancer and she had 2 other sisters that died in their mid 40's of breast and ovarian cancer. I got the gene from my dad. This gene appears to be of irish origin also.  I have hope that if only one of four kids got this crappy gene and it didn't come out until the last one (I got my cancer at 46 years) than maybe, just maybe my 2 kids will be safe.  It will be worth all the crap I have had to go through these last 3 years if I can just get that out of it. 

Radical2Squared

I am an only BRCA1. I assume it came from my Dad's side of the family where I have Ashkenazi ancestry. There are very few women in that family. I am the family historian and going the genetics of cancer fascinating even though it sucks on a personal level. The few woman that were on my Dad's side lived into their 80's and 90's so either they had the mutation and got lucky or didn't have the mutation. My only living relative on that side is my Dad's sister. She tested negative after I found out I had the mutation. I did ask my mom if she had an affair. She insists she didn't!

MelissaDallas

Radical, no males in the family with related cancers?

Radical2Squared

Melissa, lung cancer only and all were smokers.

MelissaDallas

That's really interesting. I'm a geek. I found going through genetic counseling & testing fascinating, but probably would feel differently if I had tested positive for the several things I was checked for.

Radical2Squared

Melissa,

A geek is a geek. I did test positive and still loved the genetic counseling!

Kayrem

Radical - I find it interesting that all the male relatives had lung cancer. My dad had lymphoma in his mid 50's, beat it and passed from lung cancer at 77.  I was always so happy that I had those extra years with him (his brother died from a brain tumor at 54 - after he had a bout of lymphoma also). But I was even more amazed after I found out he carried the gene (I tested positive 2 years after he passed).

They say there is no correlation between lung cancer (non small cell) and BRCA 1 but after reading your post ....

MelissaDallas

Radical, I can remember being incensed my freshman year in college that they wouldn't let me take genetics but had to take prerequisites instead. Ended up in a hippy-dippy "Man in the Natural World" eco bs class. I'm so glad I had to learn about our sewage treatment plant instead (cue sarcasm).

Kicks

Did you ever get to take the genetics class?  If you did I'm positive that learning about your sewage plant had to have been great to better prepare you for genetics. 

MelissaDallas

Sadly, no. I didn't finish. I think the main thing I learned in college was how to shoot pool...

Radical2Squared

Karem,

I also keep reminding myself that EVERYONE smoked back then...indoors and in the workplace. I want to think it was a BRCA1 thing, but my gut tells me it's not. They made it to their 70's and 80's.

Melissa,

You crack me up. The local sewer plant sounds so exci...we'll, gross!

lekker

I'm another genetics geek despite my liberal arts degree.  My second opinion onc who's an MD/PhD told me that I understand more about genetics than most oncologists he knows.  I don't want to post here if it upsets any BRCA+ women, but there isn't a board for uninformed negatives who are still searching for answers.

Radical - your male relatives' smoking might've kept BRCA-related cancers away. I remember reading that smoking has a protective effect for  at least BRCA1.  I haven't researched that in a while so I could be mistaken.

Radical2Squared

Lekker,

Now THAT is interesting... it seems like the whole world smoked through the 1980's then people in America decided it was a bad thing to do... with the timing, my grandparents were already dead or on the way by the time smoking became "uncool" and they never quit.

I'll have to look through a journal or two on-line to see if anyone has followed up on those studies.

Kayrem

Lekker

You are right! Apparently there is a protective advantage to BRCA 1 both smoking and drinking coffee. 

The first link is for smoking the second for coffee.

The coffee is a stupid amount - I think over 10 cups a day! The study link below only rates up to 6 cups but I seem to recall reading something about 10 cups. The sad thing about it was when I worked ( 10 years before diagnosis) I often drank that amount in one day.

http://jnci.oxfordjournals.org/content/90/10/761.l...

http://onlinelibrary.wiley.com/store/10.1002/ijc.2...

My sister who is not testing has 2 daughters and one of them smokes. After my dad died of lung cancer I was on her to stop smoking. Now I tell her until she decides whether she will take the test I will not say anything more about the smoking. I also told her to keep drinking LOTS of coffee. I find it ironic that 2 things that are supposedly "bad" for the normal person are cancer protective in the at risk people!

True you are picking your poison, possibly breast cancer or lung cancer...

Radical2Squared

Lekker,

Well than right now, I don't fell as guilty for starting to smoke again with all the stress...but it does make me wonder if I got the cancer because I quit in the first place! Lol

Betty14

This thread has been a very interesting read ....On my mother's side they have super genes....My grandmother lived to be in her 90's and my mother is in her late 80's with no real health threats except that she did have high blood pressure and did suffer a mild stroke but that was because she was still working and wouldn't retire. Most of mum's sisters died of heart attacks....breast cancer was unheard of in our family. My dad's parents were quite healthy from what I know and my dad has been really fit most of his life. He is in his early 80's now and he did get bladder cancer but has been NED for many years. He's been a heavy smoker and drinker for most of his life....he started smoking at 11 years of age....no I'm not joking. To me he is a fit individual considering his lifestyle and the fact that he has been NED all these years.

  Now here I am in my very lucky fit family of 'almost centenarians'...and I get bc at 45.....now I'm 48 but I can't help asking 'why me?". As soon as I told my BS that no....there was no bc in my family she didn't even bother to discuss genetic testing. The thing is that my daughter is now more at risk because of my bc dx. Is this the beginning of the line? I pray she never ever gets bc but if she did would they test her for BRCA1 and BRCA2..just wondering because if I had told my BS that my mum had been dxd with bc perhaps she would have offered me genetic testing. Instead, when I talked to my Dr about it she told me it was too expensive...she was surprised I even mentioned it. My bc was a rare type but I'm not sure if that has anything to do with anything. I'm here because I found this subject extremely interesting ..I can't help wondering if they got it wrong....perhaps a single individual can possible test positive for the BRCA gene...........without them having a relative test positive.  I'm sorry if my ranting upset anyone....that is not my intention...I guess I got caught up in the discussion because this sort of thing has weighed on my mind many times.

lekker

I'm not going to lecture any adults here about smoking, but I don't want anyone giving me credit for supporting it either! 

Betty - your BS isn't qualified to decide whether or not you need genetic testing.  Please ask for a referral to a licensed genetic counselor (at least that's what they are called in the US) and he/she will determine if you have enough risk to warrant testing.  BRCA mutations aren't the only ones associated with familial cancer so it's possible that a GC could recommend testing for something other than BRCA based on your personal and family history.  

Yes, an individual can test positive for a gene mutation that no other relative has - it's called a de novo (new) mutation and while rare, it is possible.  I don't think a GC would take the remote possibility of a de novo mutation into account when deciding if your risk of harboring a mutation is high enough to justify testing.  Would your daughter eventually be offered testing if she's ever diagnosed because of your diagnosis?  It depends.  Are you premenopausal?  If so, that might weigh in (post menopausal breast cancer in only one relative is probably not suspicious enough). I hope she never has to deal with this but if she does, her age and BC type could come into play.  You say that you have a rare type of BC - what is it?

Radical2Squared

Betty,

Call you're I insurance company. Testing can be expensive but family history is not the only reason for genetic testing. If you fit into any of the high risk categories including young age and certain ancestry backgrounds, many insurance companies cover testing.

I don't know how old your daughter is. If she is old enough, you may have better luck taking her to a genetic counselor and say I g you have breast cancer and are worried about her. If she is young, explain to the genetic counselor that you want to be tested for your daughter's sake.

Cost of testing g is variable. I have Ashkenazi Jewish ancestry so I stead of running the full battery of tests (up to $4,000) they only ran a test for 4 known mutations related to my ancestry ($500 total. Insurance covered all but my co-pay). I am officially the first known BRCA1 carrier in my family.

Ozzygirl

Betty,

I got cancer at 32 and there was no history of cancer that we knew of in my family.  

I actually got the testing back in 03 because my onc wanted to order it. He justified it as so young, fast growing etc.  The only reason I agreed to it was because I had a 10 year old daughter at the time.

I did not have counseling and probably would not have tested if they had done it because I too did not fit the profile in any shape or form.

Low and behold I was positive brca1.  Gee, lucky me.

The gene is from my fathers side and there is no history of cancer that we have been able to find for 5 generations. After that there were 2 incidents of "womens" cancer that we are not sure of being BC or OC.  

 Not having history does not preclude being positive for a mutation.