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The high frequency of peptide binding in Ig CDRs may reflect their increased diversity by somatic mutation and clonal selection by antigens.
Our analysis identified 10 downregulated genes inactivated by somatic mutation and promoter methylation.
Even so, in the periphery, the expressed light chain may also be inactivated by somatic mutation, and an autoreactive light chain can be re-expressed [ 91].
A long-standing model of cancer evolution is that tumor cells progress through stages via a reiterative process of expansion, genetic diversification by somatic mutation, and positive selection of subclones containing specific mutations.
The CDR2 of IS4VH contains an asparagine residue created by somatic mutation and in CDR3 there are multiple arginine residues, which are highly likely to have arisen as a result of antigen-driven influence.
We hypothesise that group-2 WTs may be driven by somatic mutation and have a more stable epigenome that remains close to that of their precursor NR as no significant common changes in methylation occur between WTs and NRs.
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Marc Ladanyi and colleagues show that the nuclear deubiquitinase BAP1 is commonly inactivated by somatic mutations and 3p21.1 losses in malignant pleural mesothelioma (MPM).
Bott M, Brevet M, Taylor BS, Shimizu S, Ito T, Wang L, et al. The nuclear deubiquitinase BAP1 is commonly inactivated by somatic mutations and 3p21.1 losses in malignant pleural mesothelioma.
Like Gollob, she's intrigued by somatic mutations and identified one a few years ago in an Alzheimer's patient.
Recent studies in HNSCC, published as we were finalizing this manuscript, focused on therapeutic pathways affected by somatic mutations and copy number alterations, - but only described the clustering effects of DNA methylation at a global genome wide level.
Consistent with previous reports (Lindberg et al. 2013), these spatially separated tumour cores appeared to be only distantly related by somatic mutations and therefore our aim was to identify early (common 'trunk') epigenetic events.
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