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2016 ; 6
(ä): 27437
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Significance of duon mutations in cancer genomes
#MMPMID27272679
Yadav VK
; Smith KS
; Flinders C
; Mumenthaler SM
; De S
Sci Rep
2016[Jun]; 6
(ä): 27437
PMID27272679
show ga
Functional mutations in coding regions not only affect the structure and function
of the protein products, but may also modulate their expression in some cases.
This class of mutations, recently dubbed "duon mutations" due to their dual
roles, can potentially have major impacts on downstream pathways. However their
significance in diseases such as cancer remain unclear. In a survey covering 4606
samples from 19 cancer types, and integrating allelic expression, overall mRNA
expression, regulatory motif perturbation, and chromatin signatures in one
composite index called REDACT score, we identified potential duon mutations.
Several such mutations are detected in known cancer genes in multiple cancer
types. For instance a potential duon mutation in TP53 is associated with
increased expression of the mutant allelic gene copy, thereby possibly amplifying
the functional effects on the downstream pathways. Another potential duon
mutation in SF3B1 is associated with abnormal splicing and changes in
angiogenesis and matrix degradation related pathways. Our findings emphasize the
need to interrogate the mutations in coding regions beyond their obvious effects
on protein structures.
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