Negative for BRACA gene, but had strong family history

Beacon, I was checked for PTEN & CHEK2 before BRCA because of the colon cancer in my family.

I had the Broca testing after BRCA came back negative, too. There were no mutations found for me. My HMO was willing to pay for it because I had a personal history of colon cancer at 30 and pre-menopausal breast cancer at 42. I've said in many posts that any suspicion of a genetic basis for cancer should be discussed with a licensed genetic counselor. As Melissa has said, there are times when syndromes other than BRCA should be tested first. Melissa - were you tested for the mutations that cause Lynch Syndrome? The classic Lynch cancers are colon and uterine, but there are several others. My GC had the lab pull my old colon polyp and run an IHC test as a first step in my process as Lynch was her first suspicion. That particular test isn't 100% especially with an in situ cancer like mine but Lynch was definitively ruled out thanks to the Broca panel. This is all in its infancy and many doctors have no training or education that qualifies them to request or refuse tests. My GC had me examined by a geneticist to look for signs of any of the other known syndromes before they authorized the Broca. Stick with a GC to start the process.

Hi Everyone!

Yes! BRACA testing in my opinion is so very incomplete in determining the hereditary genes and I worry that a lot of bc patients do not understand this.  This test is pushed with most treatment but, it only tests for genes that have been identified by researchers known for the hereditary link. There are still so many unknowns!!!!

I tested negative and my mother in law tested negative.  Since paternal and maternal sides for my daughter have had bc, my onc told me she should begin mammograms at age 25.  I never did go to a Geneticist.

Wow - So glad I happened upon this thread. (Gulp - I think I'm glad.) vfay - thanks for the link re: nbn mutation. I guess I'd better ask my genetic guy about this. 

Hi Everyone!

I guess the benefits of being tested outweigh not knowing??  The benefit (unfortunately) is knowing if you are tested positive. The knowledge can help our children although I hate to think they will fear being pre-disposed to the disease.  That is what I worry about for my kids is their mental state regardless of my negative result.  Cancer affected my own paternal and mothers side of the family.  Other than a mother with skin cancer at 88 and a sister at 64 who have been blessed with remaining free of the disease,  I have many uncles, cousins, my grandmother, who have all had different types of cancer from bc, ovarian, prostate, lung, kidney, colon, the list goes on and on.  Geesh!  How depressing!  I am an excellent example of testing negative and having many hereditary incidences. Testing negative means squat in my family!

Hugs to everyone!

Hi, jumping in here because I've got a bunch of similar questions.I was dx w stage 1 lobular BC in 2010 at age 49. Had the BRCA test which was negative. Decided to have the extended gene sequencing tested because we have a curious thing going on in my family. I have 6 cousins who have had BC all related through my maternal grandmother, yet none are a first degree relatives of mine. My mother, her sister and their mother or her sister didn't have BC, yet these cousins in my generation did. The sequencing showed 3 brca2 mutations of unknown clinical significance. None of the other cousins have had the extended sequencing done and I sometimes wonder if they'd find the same mutations and perhaps we would discover a new mutation. We are of eastern European, Slavic Ashkenazi Jewish descent. Mom did have lung cancer in 2009 and survived. Dad died of leukemia in 2012. Not sure if this is relevant. Lots of smart geneticists here in israel due to the prevalence of the BRCA genes in the population and they told me not to think about this. But I do wonder. Any thoughts would be appreciated:)

farmerlucy, 

Actually according to Myriad, the stats are more like 92.5% of those with a mutation tested positive on BRCA, and 7.5% tested positive on BART. HOWEVER, less than 1% of those who test negative on BRCA actually get a positive on BART. Those of Latin American, Carribean, etc descent are more likely to be positive on BART than those of European descent.

I am one of those with a negative BRCA/BART result - and so I was left as an uninformed negative rather than a true negative as there are no know mutations in my family. Initially after testing negative I was left dealing with some uncertainty for a while and a real desire to find the one true answer for my family's cancer history. I did have other testing done and a few variations that have been linked as perhaps being lower to moderate penetrance variations in various genes (like BRCA2, PALB2, and a few others) did show up. At this point there is nothing "clinically actionable" or even decisive about risk for those variations, or combination of variations though so it is not like it clarified anything that way or there is much that can be done with it. Maybe it is just of interest for researchers at this point. However, for me it was enough at that point to say "yup, given my family history it is possible that there are polygenic factors at play and these may or may not be some of them" and accepting that I might not ever have a firm grasp of whether or not there is a 'significant' mutation going on. There may be, but it really might be the result of many smaller less significant variations to which I may never have a certain answer. My genetic counselor feels quite certain that my family history is likely the result of polygenic factors, and that is not something that at this point in time one can figure out if they are a "true negative" for or not.

My family history also so far involves metastatic disease/recurrence in every case, most recently my mother, 8 years out of her diagnosis. I understand there can be genetic factors involved in that too, but quite frankly, it only drives home the point for me that counting on "catching it early" in my family has not worked out too well. For me high risk screening was not enough for me. I am hoping my surgery will increase chance of being the first woman in my maternal family to see my 60s in a long time (though I hope my mother beats me to it and can get a few good years in).

Thanks Ladies for sharing this info.. I had the BRCA1 AND 2 TEST done because of strong family history on my mother side of the family and father's side of the family. My results came back Negative but was told everyone should still be tested because I may just have a gene they not testing for and someone else in the family may have the current gene being tested for. My family have all types of cancer's in it. My diagnosis has made me feel more transparent to everyone about the importance of getting care.