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Exact(11)
This nonsense mutation is relatively common in Spanish cohorts9,10.
We acknowledge that sharing the same KRAS mutation alone does not guarantee genetic relatedness, but the G12R mutation is relatively uncommon (only ~10 15% of pancreatic ductal adenocarcinomas).
BARD1 mutations are considered a high cancer risk and need further examination, as their exact function after mutation is relatively unknown.
However, the D409H mutation is relatively common in the neuronopathic Gaucher disease variants [2], and, although rare, V394L has very similar kinetic and cellular properties, including response to LTCC blockers, as N370S.
It is now appreciated that APC mutation is relatively rare in other solid tumors but it is silenced by gene methylation in multiple tumor types, including breast cancer (reviewed in [ 4]).
The R30K resistance-associated mutation was very rare in our sample (1%) and found only in Colorado (Table 2) indicating either that the mutation is relatively new or is counter-selected due to the fitness costs [ 43].
Similar(48)
While the frequency of NKD1 mutation was relatively low compared to that of known Wnt pathway genes, a mutual exclusivity among mutations in NKD1 and other Wnt pathway genes was statistically significant in tumor samples.
We found that while CHD5 mutation was relatively rare, it had frequent down-regulation, hemizygous deletion and promoter methylation.
Although we did not discern a relationship to gene mutation status, the overall frequency of TP53 gene mutation was relatively low.
In a Ugandan study [ 6], the K103N mutation was relatively more frequent in C subtype- infected women failing NNRTI-based therapy than in both A and D subtypes.
In this study, PIK3CA mutation was relatively frequent in squamous cell lung cancer, as reported in other studies, while FGFR1 copy number gain seemed less frequent [ 8, 9].
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