Gene deletion drives more than a quarter of breast cancers

Yes, but is there a test to tell us whether we have this gene deletion or not? I'd sure like to know that before deciding on a hormone therapy.

I looked up NF1, and this website explains how to know if you have it, or rather don't have that gene.

One sign is having cafe-au-lait spots on your skin.  It actually sounds rare to be missing the gene so I wonder how the article comes up with the 'quarter of bc' is driven by this. 

http://www.understandingnf1.org/id/int_id_hii.html

 I really wish I studied more science. There is so much to learn out there.

Whoa there! the site linked by Lee7 is about a disease, neurofibromatosis, caused by a mutation of the NF1 gene, but the study is about a deletion of the gene. I'm pretty sure a mutation and a deletion are two different things. The study says more than a quarter of breast cancers have this deletion. If the deletion and the mutation were the same thing, shouldn't more than a quarter of breast cancer patients also have neurofibromatosis?

@AnnNYC, I got the impression from the article that with cancers, the entire gene was deleted (like dropping a word or even a whole sentence), not just one or more base pairs (comparable to dropping a letter or letters). I'm thinking also that with cancer, the deletion (whether of a few genetic letters or an entire word or sentence) takes place only in the tumor cells, whereas the neurofibromatosis mutation is in all the cells of an affected person's body and can be passed on to their descendants. Is that what it sounded like to you too?

Hello everyone.  I am the lead author on the research article this thread is about.  It's great to see news of the research spreading.  This has the potential to help a lot of people.  I'll try to clear up some confusion in this thread about the findings.

The Nf1 gene is named after the neurofibromatosis disease, because inherited mutations in Nf1 cause the disease.  The disease neurofibromatosis is associated with increased breast cancer risk.  However, our research data is about all breast cancer patients, not just those with Neurofibromatosis.  

The loss of NF1 in 27.7% of all breast cancer patients refers to a few things:
Spontaneous somatic loss of either one or both copies of the Nf1 gene OR point mutations in the gene. (English Translation in context: A breast cell lost at least 1 of 2 copies of the Nf1 gene.  This loss was a major driver in transforming the breast cell into a cancerous one, which then formed a tumor.  This is not inherited loss of Nf1 in the entire body like the Neurofibromatosis disease.  We also found that loss of Nf1 occurred primarily through deletion of the gene, though ~4% of cases also had point mutations (single DNA base pair changes). 

Why do we think Nf1 is being lost so frequently?  
1. It's big, which makes it more prone to mutations.  
2. It has fragile sites around it, making the DNA prone to breaking there.  
3. It is at a place on the chromosome where the cell pauses while making a copy of the DNA, waits, and then continues making a copy of the DNA.

Why is this finding important?
Spontaneous loss of Nf1 in such a high percentage of breast tumors has major implications for treatment.  As the article and others here in this thread have pointed out, loss of Nf1 increases resistance to the standard tamoxifen treatment.  Additionally, we found that these tumors are sensitive to drugs targeting the pathways Nf1 is involved in.  There are drugs in clinical trials for use in breast cancer that target the pathways that Nf1 is involved in.  With 1.5 million new cases of breast cancer each year, these Nf1 findings have the potential to help ~383,000 breast cancer patients.

Is there currently an Nf1 test?
Yes and No.
Tests can be done for ANY gene in a tumor (including Nf1).  But the clinic is just beginning to catch up to research.  Testing breast tumors for Nf1 is not currently routine, though it would be as simple as a qPCR reaction.  Hopefully, genomic technologies will be implemented on a wide-spread basis in the near future so that every gene in the genome is examined at the same time, rather than on a gene-by-gene basis.  In some places, this technology is being made available in limited forms.  

Thank you and if you are doing further research including testing for the gene I am sure that there are a lot of volunteers here. Please come back and visit us again

I too was just diagnosed with early BC and I have NF1....Im concerned about radiation and now I guess I also need to worry about the Tamoxafin..I will see what the surgeon says on Friday....