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Sporadic granular cell tumours lack recurrent mutations in PTPN11, PTEN and other cancer-related genes
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Journal Article
Sporadic granular cell tumours lack recurrent mutations in PTPN11, PTEN and other cancer-related genes
2018
Overview
ATM inactivation and consequent defective DNA repair signalling may lead to accumulation of DNA damage and the emergence of mutations, increasing the risk of neoplasms development8 as shown in schematic (figure 2). [...]to test the possible functional effect of the missense ATM mutation detected, we assessed in our samples the immunohistochemical expression of two substrates of its pathway (phospho-Chk2 and phospho-histone H2A.X). DNA damage might be caused by endogenous and/or exogenous agents and promotes cellular responses that can arrest cell cycle progression, DNA repair and apoptosis. [...]only two of six samples showed mutations in the oncogenes and tumour suppressor genes screened, but none occurred in PTPN11 and PTEN genes.
Publisher
BMJ Publishing Group LTD
Subject
