Fwd: research proposal - breast cancer genetics
Eva - thank you again for taking the time to speak to me this morning. Peter and I are absolutely excited about the project and just as enthusiastic about our chances for making real progress in a reasonable time frame.
As you suggested, I put together a 1 page summary/research description of the work. It is attached as a pdf. Hopefully, I was able to convey the uniqueness and timeliness of the research: an opportunity to identify the genes which lead to the development of breast cancer in all women through the targeted study of families who inherit and pass on an extremely high risk of breast cancer without mutations in BRCA1/2.
Again, we are very appreciative of your efforts to help us move this forward. Please do not hesitate to contact me with any questions or comments.
Sincerely,
John
John A. Martignetti, M.D., Ph.D.
Mount Sinai School of Medicine
Departments of Genetics and Genomic Science, Pediatrics, and
Oncological Sciences
1425 Madison Avenue
Room 14-26D
New York. NY 10029
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as this is also close to your heart , so to speak„ , ideas would be appreaciated
Forwarded message --------- From: Eva Dubin Date: Tue, Feb 15, 2011 at 11:57 PM Subject: FW: research proposal - breast cancer genetics To: Jeffrey jeevacation@gmail.com
It sounds like a good 100 K investment. What do you think?
I will approach all the foundations Melanie discussed. Peter Dottino is not part of the Breast Center but I really like him
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and this would directly have an impact on our breast patients.
Sony for all the typos .Sent from my iPhone
Begin forwarded message:
From:
Date: February 16, 2011 1:59:51 PM EST
Subject: Re: research proposal - breast cancer genetics
I do not know Dr. Dottino, however what he is suggesting is not novel in itself - before a gene can be considered causative or contributory it must first be established that it is truly the case. This process is usually done in a linkage analysis within a family (or exposure) cluster. In this case it appears he has identified a cluster and is looking to make the linkage and establish the causal relationship. While the report is not very detailed, it appears that routine scientific technologies will be used. Just looking through the literature on pubmed, I found at least 10 (and then stopped looking) other scientists who had undertaken such linkage analysis in breast cancer. It is certainly the 'holy grail" to try to find the right gene or the single causative gene for breast cancer. To date, there have only been associations (BCR1, 2). It isn't clear to me what happens if he does establish a link? Perhaps he could have a home run like with BCR and say that this particular gene (if you have it) may lead to cancer and I think that is certainly a contribution to science and if I had that gene I would want to do something about it for sure. So it is certainly actionable. $100,000 could establish the linkage in that family and he would publish his results and people would talk about it. To take it to the next level would require significantly greater resources. He would need to then build a model, look for community members with the gene who are not part of the family and have also had the disease,etc. You certainly wouldn't want to make a recommendation for society that only applies to one family. So while this may look like a $100,00 investment, that is just to get a paper in the literature and link the family genetically. It would take on the order of years and millions to get this to BCR level. I am not personally aware of other donors that have that type of interest. Practically speaking, the genetic testing may not be as actionable as a mammogram or ultrasound or self-breast exam. Knowing you have a gene may or may not prompt you to do something. Since no gene therapies have made it to the fore, the only thing you can do with this information is say "ok" and gather other data points. This is an interesting bit of science but it isn't game changing. That's my view from a pure science perspective.