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Deregulation of signal transduction pathways mutations is found both in low- and high-grade gliomas, whereas other mutations are predominantly found in one or another group of gliomas.
One of the activating mutations is found in MKK1 at the conserved tyrosine (Y130) that aligns with the tyrosine residue mutated in P1 (Y423H).
A wide spectrum of ATM mutations is found in AT patients.
The second category of missense mutations is found at the dimer interface, e.g. R249W, I252T, G257R, A259V and R264C/H.
Interestingly, a large panel of activating mutations is found in the mTOR pathway, including PI3KCA (the PI3K catalytic subunit alpha isoform), AKT1 and mTOR mutations, as well as PTEN loss.
By comparison, when HPC families that include members with a history of breast or ovarian cancer are screened for BRCA2 mutations, no excess of protein-truncating BRCA2 mutations is found (Agalliu et al, 2007).
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More and more mutations are found that influence behaviour.
No mutations were found in CHRNB2 and CHRNA2.
No mutations were found in the αMSH gene.
No missense or nonsense mutations were found.
Neither deletions nor nonsense mutations were found in it.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com