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p53 has been reported to be frequently mutated in humans cancers with mutations occurring in greater than 50% of lung tumors [ 135, 136].
As part of the genetic characterization of LPTAs, we screened the MEN1 and HRPT2 genes for mutations as these are known to be frequently mutated in parathyroid tumors (Heppner et al. 1997, Farnebo et al. 1998).
The p53 gene is reported to be frequently mutated in lung SQCs (Sanchez-Cespedes, 2003), and missense mutations frequently cause the abnormal accumulation of p53 (Toyooka et al, 2003).
It is noteworthy that among the genes up-regulated upon UPF1 silencing, four not yet reported target genes (SLC35F5, TTC3, ARV1 and SMAP1) are here demonstrated to be frequently mutated in our series of MSI primary CRCs.
Thus, although Lkb1 is not been reported to be frequently mutated in this disease [29], it is clear that pathways governed by Lkb1 are relevant to disease and we therefore decided to evaluate the extent of in vivo synergy between mutations in Pten and Lkb1 within murine epithelia.
In addition, ARID1A appears to be frequently mutated in gastrointestinal tumors displaying high levels of MSI.
Similar(41)
Although BCL2 is frequently mutated in NHL, these mutations do not affect sensitivity to ABT-737 ref. ABT-737 refe unlikely to affect navitoclax or venetoclax efficacy.
The gene RPS19 is frequently mutated in DBA [15], but mutations have also been found in RPS24, RPS17, RPL35A, RPL5, RPL11, and RPS7 [17], [17].
MSH2 is frequently mutated in HNPCC/LS, while MSH6 mutations are more rare (although MSH6, like MSH3, is also commonly frame-shifted in MSI positive CRCs [ 52, 54]).
The mutation of SF3B1 gene, which was frequently mutated in MDS-RS, was not detected in CSA patients.
Tumour samples were screened for mutations in MAPK pathway effectors, which are frequently mutated in thyroid cancer (Supplementary Table 1).
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