Adam Shaw

TL;DR: The phase 3 TNT Trial in subjects with triple-negative breast cancer supports the superiority of carboplatin over docetaxel in BRCA1/2-mutated tumors and a greater response to taxanes in the nonbasal subtype, and concludes that patients with advanced TNBC benefit from characterization of BRC a/2 mutations, but not BRC1 methylation or Myriad HRD analyses, to inform choices on platinum-based chemotherapy.

TL;DR: TNT will be the first randomised trial to report the activity of platinum compared with standard chemotherapy within TNBC subtypes and in relation to BRCA1/2 mutation status and DNA repair biomarkers and safety, tolerability and response to crossover treatment will also be presented.

TL;DR: It is demonstrated that EP300 mutations cause a phenotype that typically resembles the classical RSTS phenotype due to CREBBP mutations to a great extent, although most facial signs are less marked with the exception of a low‐hanging columella.

TL;DR: Early age at diagnosis and the presence of intracranial meningiomas were associated with increased mortality, and having a mosaic, rather than non-mosaic, NF2 mutation was associated with reduced mortality.

TL;DR: The moderate relationships of NFTI-QOL with clinician- and genetic-rated severity suggest that NFTSev taps into NF2 patient experiences that are not encompassed by ClinSev rating or genotype.