The signal for deleterious mutations was substantially reduced if TP53 was excluded (34.9 % of deleterious and 28.5 % of other non-synonymous mutations had LOH).
While IDH1/2 mutations were substantially more common in AA patients (84% vs 18% of GB), in both groups they were associated with significantly improved survival, with survival HRs of 3.82 (95% CI 1.08, 13.43) and 2.32 (95% CI 1.75, 3.19) respectively.
The autophosphorylation rate of full-length Btk with the K49E/R52E mutations was substantially higher than that of the wild-type protein, with pronounced phosphorylation observed in the first 2 min of the reaction.
There is a mutation in humans that partially reduces the expression of one of the Ragulator components, and patients carrying this mutation are substantially smaller in size than their peers, a characteristic of mTORC1 pathway inhibition in model organisms (1, 2, 7).
The rate of point mutation is substantially increased near insertions and deletions (reviewed in [ 155]).
The probability of breast cancer in a patient with BRCA1 or BRCA2 gene mutation is around 70%, but the probability that a woman with breast cancer also has the gene mutation is substantially lower.
The fitness increase of the SGF73 mutation was substantially lower than that provided by SUL1 amplification (25% vs. 43%), suggesting that adaptive point mutations, if and when they occur, cannot compete with the added advantage that SUL1 amplification provides.
While there was considerable overlap in the levels of cholestane-3β,5α,6β-triol between the NP-C uncertain and NP-C negative groups in the current study, plasma concentrations of this putative biomarker in the NP-C positive patients, including the patient with a novel NPC1 mutation, were substantially higher.
The average risks of developing ER-positive and ER-negative breast cancer in both BRCA1 and BRCA2 mutation carriers are substantially higher compared to the general population [ 38].
New research might confirm that AD patients with FLG mutations are indeed substantially more susceptible to occupational HE than patients with AD without FLG mutations.
