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We assessed the relationship of STAG2 mutation with tumour grade, stage and patient gender.
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The concordance rate of cfDNA BRAF mutations with tumour BRAF mutations was 56%, which is consistent with that of other reports (Daniotti et al, 2007; Yancovitz et al, 2007).
A clearly enhanced prognostic value of plasma mutations compared with tumour mutations was revealed when analysing the relationships between OR and DFS and the plasma KRAS mutation status (Table 2 and Figure 1).
Therefore we correlated FGFR3 mutation status with tumour grade.
They associated high frequencies of TERT promoter mutations, with tumours arising in tissues having low rates of self-renewal.
This difference of distributions is likely the consequence of the association of PDGFRA mutations with tumours of gastric origin (Lasota et al, 2004).
Voided urine specimens and bladder wash specimens have >90% accuracy in detecting p53 mutations compared with tumour tissue and show the same mutations after sequencing (Prescott et al, 2001).
As expected, given the association of STAG2 mutation with low tumour grade and stage, we also found significant association with these other mutational events in the non-invasive tumour group.
PFS and overall survival were also longer for patients with GIST with either a primary KIT exon 9 mutation or with no detectable KIT/ PDGFRA mutation, compared with tumours with a KIT exon 11 mutation.
The frequency of these mutations correlates with tumour grade.
In the majority of cases, however, mutations segregate with tumour subtype: CTNNB1 in aCPs and BRAF in pCPs.
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