BRCA1 - GENETIC VARIANT OF UNCERTAIN SIGNIFICANCE

Mckenna, the "uncertain variants" in BRCA1 are uncommon, so it may be difficult to find others with a similar type of the test result in this forum. "Uncertain" means that today, it's impossible to prove if this specific variation in the gene is dangerous (usually it isn't). But it won't stay uncertain forever. Over time, testing in the families and other kinds of research should make it clear if the variant increases the risk of cancer. But until this research comes to a conclusion, the uncertain result usually has no impact on treatment.

Have you seen a genetic counselor? Do you know how much is already known / published about your specific variant?

you know, mckenna

I have been wondering about that.  They asked me if I had the gene test and I said no, and I don't think I have it.  However, how would I know?  

I have about no female relatives.   Just my mother, no cancer, and grandmother who died of breast cancer in the laste 30s, no aunts, no sisters, no daughters, no granddaughters, no neices, all males.

In my mother's small family, her brother died of bladder cancer, her father of lung cancer.  I always thought they had a lethal gene that activated when exposed to tobacco.  My mother never smoked. 

I have a friend who has had ovarian cancer and has the BRCA gene.  But all her female relatives on her mothers side have died of ovaian cancer, mother, aunts, cousins, and sister. 

So it expresses though the female line, but I have no female ralatives, I should have been tested.  I wonder, does it make any difference to the rad treatment which you have had and I am slated for?  

Don't know if you are still reading this post. My BRCA2 came back with a variant of uncertain significance. I was diagnosed 5 years ago. I had ovaries and tubes removed. My father has been diagnosed with metastatic prostate cancer. He was just tested and came back with the same BRCA2 variant that I have. His mother died of metastatic breast cancer in 1954. She had three sons. Two of the sons had a daughter who was diagnosed with BC, my cousin at age 43, and me at age 48. My cousin has not yet had the genetic testing, but will soon.

Hi. i was diagnosed in 2007 and had the BRCA testing a year later. It came back variant of uncertain significance. i really did not know what to make of this and neither did my doctors. My gyno wanted me to remove my ovaries but i just could not remove body parts based upon a result that no one could explain to me!!! These variations in the gene are just that - uncertain variations - they are not sure whether or not they contribute to breast cancer.



my oncologist said that they continue to study these variants and sometimes reclassify them to harmful or harmless years later. fast forward four years - i received amended brca results in the mail last week.....my uncertain variant has been reclassified to genetic variant - favorable polymorphism. This means that this variation in the gene most likely DOES NOT contribute to heredity breast/ovarian cancer syndrome. good news.



so why did i get breast cancer??? the million dollar question. hope this helps.