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MLH1 mutations were exclusively seen in the two younger patients (<45 years).
Thirty-three mutations were exclusively detected in the post-treatment samples and 13 mutations clustered into subclones that were dominant in the post-treatment compared to pre-treatment samples (Supplementary Data 6).
PTCH1 mutations were exclusively identified in type B tumors.
Interestingly, IDH1 mutations were exclusively observed in microsatellite stable cancers.
K27M-H3 mutations were exclusively found in tumours with WHO grade II IV astrocytoma histology.
Interestingly, PIK3CA mutations were exclusively observed in patients proficient for BRCA1.
Similar(46)
However, a subset of mutations was exclusively detected in ctDNA (Fig. 2), with a median concordance rate of 60% (ranging from 5 to 77%).
Therefore, whereas females can inherit MECP2 mutations from either parent, male inheritance of MECP2 mutations is exclusively maternal.
These results are in contrast with the current opinion that VHL mutations are exclusively restricted to clear-cell RCC.
As mutations in LMNA are causing both HGP and WS, whereas WRN mutations are exclusively related to the latter, we analyzed both mutations separately.
It is interesting that H3.3 is the predominant H3 used for chromatin repair in many cell types (Adam et al. 2014), and that G34 and K36 mutations are exclusively in H3.3.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com