Mr. Jeff Shaddix of Your Cancer Family Forums, a friend in Bunnyland, has coordinated a conference call with Dr. Jaclyn Biegel of Children's Hospital of Philadelphia on December 3, 2008. Dr. Biegel performed our genetic test, and is a researcher into the genetics of AT/RT and Rhabdoid Predisposition Syndrome.
In preparation for the call, I plan to email some questions to Dr. Biegel in advance so that she has time to consider and prepare an answer. The questions I plan to ask are as follows (the list may be edited from time to time following this initial post):
My daughter has the germline mutation, does that mean she has "Rhabdoid Pre-Disposition Syndrome" or are other markers needed to apply that label?
I would like a basic explanation of how researchers theorize the mutation happens. Is it a mutation of individual sperm or ova, or more likely a post-implantation mutation in the embryo?
Have researchers started to see, or will look for, any correlations in any ethnicity, age, location or other statistical markers with de novo germline mutations? Are any hypotheses posited as to causation, or is it too early in research?
What relationship is theorized between the germline mutation/RPDS and any FUTURE (i.e. non-metastatic) rhabdoid tumors – i.e. does Vivi have increased risk for developing a second RTK in the other kidney or rhabdoid tumors in other organs?
Is it thought that RPDS has any statistical correlation with recurrences or any predictive value for relapse?
Is it thought that RPDS has any statistical correlation with prognosis?
If anyone has any additional questions they would like answered, please feel free to comment and I will add your question to the list.
In preparation for the call, I plan to email some questions to Dr. Biegel in advance so that she has time to consider and prepare an answer. The questions I plan to ask are as follows (the list may be edited from time to time following this initial post):
- My daughter has the germline mutation, does that mean she has "Rhabdoid Pre-Disposition Syndrome" or are other markers needed to apply that label?
I would like a basic explanation of how researchers theorize the mutation happens. Is it a mutation of individual sperm or ova, or more likely a post-implantation mutation in the embryo? Have researchers started to see, or will look for, any correlations in any ethnicity, age, location or other statistical markers with de novo germline mutations? Are any hypotheses posited as to causation, or is it too early in research? What relationship is theorized between the germline mutation/RPDS and any FUTURE (i.e. non-metastatic) rhabdoid tumors – i.e. does Vivi have increased risk for developing a second RTK in the other kidney or rhabdoid tumors in other organs? Is it thought that RPDS has any statistical correlation with recurrences or any predictive value for relapse? Is it thought that RPDS has any statistical correlation with prognosis?
If anyone has any additional questions they would like answered, please feel free to comment and I will add your question to the list.