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Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel.
(NATURE PUBLISHING GROUP, 2018-03-01)
PurposeIntegrating genomic sequencing in clinical care requires standardization of variant interpretation practices. The Clinical Genome Resource has established expert panels to adapt the American College of Medical ...
CardioClassifier: disease- and gene-specific computational decision support for clinical genome interpretation.
(NATURE PUBLISHING GROUP, 2018-10-01)
PURPOSE: Internationally adopted variant interpretation guidelines from the American College of Medical Genetics and Genomics (ACMG) are generic and require disease-specific refinement. Here we developed CardioClassifier ...
Long-term outcomes for neoadjuvant versus adjuvant chemotherapy in early breast cancer: meta-analysis of individual patient data from ten randomised trials.
(ELSEVIER SCIENCE INC, 2018-01-01)
BACKGROUND: Neoadjuvant chemotherapy (NACT) for early breast cancer can make breast-conserving surgery more feasible and might be more likely to eradicate micrometastatic disease than might the same chemotherapy given after ...
Novel 18-gene signature for predicting relapse in ER-positive, HER2-negative breast cancer.
(BMC, 2018-09-04)
BACKGROUND: Several prognostic signatures for early oestrogen receptor-positive (ER+) breast cancer have been established with a 10-year follow-up. We tested the hypothesis that signatures optimised for 0-5-year and 5-10-year ...
Olaratumab in soft tissue sarcoma - Current status and future perspectives.
(ELSEVIER SCI LTD, 2018-03-01)
Recent randomised phase II trial data have indicated that the addition of olaratumab, a novel monoclonal antibody against platelet-derived growth factor receptor alpha (PDGFRα), to doxorubicin confers an unprecedented ...
SWATH mass spectrometry as a tool for quantitative profiling of the matrisome.
(ELSEVIER, 2018-03-01)
Proteomic analysis of extracellular matrix (ECM) and ECM-associated proteins, collectively known as the matrisome, is a challenging task due to the inherent complexity and insolubility of these proteins. Here we present ...
SOX9 is a driver of aggressive prostate cancer by promoting invasion, cell fate and cytoskeleton alterations and epithelial to mesenchymal transition.
(Impact Journals, LLC, 2018-01-26)
Aggressive lethal prostate cancer is characterised by tumour invasion, metastasis and androgen resistance. Understanding the mechanisms by which localised disease progresses to advanced lethal stages is key to the development ...
Clinical and Molecular Spectrum of Liposarcoma.
(LIPPINCOTT WILLIAMS & WILKINS, 2018-01-10)
Liposarcomas are rare malignant tumors of adipocytic differentiation. The classification of liposarcomas into four principal subtypes reflects the distinct clinical behavior, treatment sensitivity, and underlying biology ...
Phase II, Open-Label, Randomized, Multicenter Trial (HERBY) of Bevacizumab in Pediatric Patients With Newly Diagnosed High-Grade Glioma.
(AMER SOC CLINICAL ONCOLOGY, 2018-04-01)
Purpose Bevacizumab (BEV) is approved in more than 60 countries for use in adults with recurrent glioblastoma. We evaluated the addition of BEV to radiotherapy plus temozolomide (RT+TMZ) in pediatric patients with newly ...
THE TEN-YEAR EVOLUTIONARY TRAJECTORY OF A HIGHLY RECURRENT PAEDIATRIC HIGH GRADE NEUROEPITHELIAL TUMOUR WITH MN1:BEND2 FUSION
(OXFORD UNIV PRESS INC, 2018-06-01)