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Dr. Andrew Rynne
MD
Dr. Andrew Rynne

Family Physician

Exp 50 years

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Could 12p12.1 Deletion And Cerebral Palsy Increase The Likelihood Of Developing Cancer?

I saw the post from the mom of a child with a 12p12.1 deletion and was intrigued. I too have a son 9 y.o. who has been diagnosed with a 12p12.1 deletion and cerebral palsy. The geneticists at a top children s hospital had no experience with 12p12.1 deletion and could only find two other cases in the world in the medical journals. The geneticists nor the neurologist could tell us what to expect. The two cases found in the medical journal were apparently much more severe. My son has mild developmental delay, mild speech and motor delays, vision issues and has recently developed a movement disorder. He is able to run and play and is served under an IEP in the inclusion classroom to address reading, writing and math delays. I have done internet research and am concerned that I see genes in that region associated with cancer. Could this increase the likelihood of him developing cancer. Also, With the diagnosis of 12p12.1 deletion, would there not be another chromosome 12 (since they occur in pairs) that would contain the genes that are missing.
Tue, 3 Jun 2014
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Geriatrics Specialist 's  Response
Hello,
Having a genetic deletion does not automatically increase the risk of cancer. Cancer is always multifactorial and genetics is a certain risk factor.
Chromosome occurs in pairs. But some times gene requires two copies for normal expression to be produced. So one chromosome has deletion, end product won't be there. As there is limited knowledge in present deletion, not much can be commented upon.
Now about risk of cancer - what cancer are we talking about. If we check ourselves, we would have plenty of mutated gene causing us high risk. As it has a multifactorial cause, cancer risk would be the same as most of us. However, better nutrition and healthy habits can still further reduce the risk.
Hope I have answered your query. Happy to help, if you have any further queries.
PS. Facebook seems to have a 12p mutation group - join and share information
Take care
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Could 12p12.1 Deletion And Cerebral Palsy Increase The Likelihood Of Developing Cancer?

Hello, Having a genetic deletion does not automatically increase the risk of cancer. Cancer is always multifactorial and genetics is a certain risk factor. Chromosome occurs in pairs. But some times gene requires two copies for normal expression to be produced. So one chromosome has deletion, end product won t be there. As there is limited knowledge in present deletion, not much can be commented upon. Now about risk of cancer - what cancer are we talking about. If we check ourselves, we would have plenty of mutated gene causing us high risk. As it has a multifactorial cause, cancer risk would be the same as most of us. However, better nutrition and healthy habits can still further reduce the risk. Hope I have answered your query. Happy to help, if you have any further queries. PS. Facebook seems to have a 12p mutation group - join and share information Take care