I found a pathogenic mutation in a cancer gene and I expected to see a decreased expression (down-regulation).
However, most studies have already reported the up-regulation of this gene.
Can you guide me on the consequence of pathogenic mutation on the gene expression?
And if the observed results are common?
Any mutation can be neutral, positive or negative. You are talking about a mutation in a gene, though I wonder if you mean in a promoter instead. Either way, any outcome is possible. For example, if the original residue in a protein was a modification site that was targeting the protein for degradation, the mutated residue may not support this modification and will extend protein's life. That will be manifested as up-regulation, even though the amount of protein made may be the same in both cases.
There are other explanations, and it isn't really worth going into all the possibilities without knowing the details. As I said before, it is not really a question for this forum.
Thank you.
Yes, you're right. I am a bioinformatician, however for interpreting the results of bioinformatics analysis I need help from geneticists.
Thank you any way for your explanation