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This mutation was recently reported in a patient that presented familial gastrointestinal stromal tumor and mastocytosis [21].
The V68 mutation was recently reported to be phylogenetically equivalent to M78 in a sample of 239 African chromosomes [4].
This mutation was recently reported in a large clinical database from a multi-center case-control study screening patients for LQT [40].
However a dominant mutation was recently found in this gene.
Ivacaftor, a corrector of the G551D mutation, was recently approved by the Food and Drug Administration.
Remarkably, a MYD88 L265P-activating mutation was recently found in 90% of WM cases.
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MAX germline mutation is recently identified as a rare cause of hereditary PPGL.
Among the mtDNA mutations observed in these patients, the coding G8836C (ATP6) mutation is recently reported in patients with Leber Hereditary Optic Neuropathy (LHON -like syndrome and thyroid tumors [15]–[16].
ERBB2 amplification and PIK3CA mutation were recently validated as biomarkers of sensitivity to single-agent PI3K inhibitor GDC-09411) therapy in breast cancer models [ 35].
In addition to KRAS codon 12 and 13 mutations, mutations in several other codons of KRAS and NRAS (called the infrequent‐ RAS mutation) were recently established as unresponsiveness predictors of anti‐EGFR treatment.
Mutations include missense, nonsense, splice site, and frameshift changes as well as copy number mutation being recently recognized as significant contributors both at the exon and whole gene level 31 and beyond.
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