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Subject: ini1 gene mutation
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jared's mom
Posted:09/17/2005 6:05 PM
to be honest I am a bit confused with the INI1 gene and the Cylcin D1. But today I just got the results from our oncologist on testing on jared's tumor and blood done by Dr. Biegel. Very very good news we were told. They found the mutation in the INI1 gene in the tumor only. it was not present in his blood so it does not seem to be germline mutation and that the chances of getting another rhabdoid in another area is greatly reduced. And with great relief Jordan's (jared's baby brother) chances of getting cancer rhabdoid or other cancer is no greater than any other child.

I will actually call dr. Biegel just to clarify a few things. But right now we feel elated. It would have been better if we were told it was not a rhabdoid/cancer but this is probably the second best news possible.

I do not know if the doctors now routinely do the genetic testing of the tumor and child, but I would think they should. I feel that if they test the tumor prior to treatment it may change the type of chemotherapy. This test would also give more insight as to whether the kids had their tumor at birth and if any future children from the same parents were at more risk to have or get cancer. Of course this would be reliable if your first child was diagnosed with cancer as was mine.

Hopefully they can expand on this information and find an effective treatment for the children. \ \ \ \
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