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Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness.
(AMER ASSOC CANCER RESEARCH, 2020-02-01)
Pathogenic sequence variants (PSV) in BRCA1 or BRCA2 (BRCA1/2) are associated with increased risk and severity of prostate cancer. We evaluated whether PSVs in BRCA1/2 were associated with risk of overall prostate cancer ...
Molecular, Pathological, Radiological, and Immune Profiling of Non-brainstem Pediatric High-Grade Glioma from the HERBY Phase II Randomized Trial.
(CELL PRESS, 2018-05-14)
The HERBY trial was a phase II open-label, randomized, multicenter trial evaluating bevacizumab (BEV) in addition to temozolomide/radiotherapy in patients with newly diagnosed non-brainstem high-grade glioma (HGG) between ...
Intratumoural evolutionary landscape of high-risk prostate cancer: the PROGENY study of genomic and immune parameters.
(ELSEVIER, 2017-10-01)
BACKGROUND: Intratumoural heterogeneity (ITH) is well recognised in prostate cancer (PC), but its role in high-risk disease is uncertain. A prospective, single-arm, translational study using targeted multiregion prostate ...
Comprehensive molecular characterisation of epilepsy-associated glioneuronal tumours.
(SPRINGER, 2018-01-01)
Glioneuronal tumours are an important cause of treatment-resistant epilepsy. Subtypes of tumour are often poorly discriminated by histological features and may be difficult to diagnose due to a lack of robust diagnostic ...
Timing the Landmark Events in the Evolution of Clear Cell Renal Cell Cancer: TRACERx Renal.
(CELL PRESS, 2018-04-19)
Clear cell renal cell carcinoma (ccRCC) is characterized by near-universal loss of the short arm of chromosome 3, deleting several tumor suppressor genes. We analyzed whole genomes from 95 biopsies across 33 patients with ...
Avapritinib Versus Regorafenib in Locally Advanced Unresectable or Metastatic GI Stromal Tumor: A Randomized, Open-Label Phase III Study.
(LIPPINCOTT WILLIAMS & WILKINS, 2021-10-01)
PURPOSE: Primary or secondary mutations in KIT or platelet-derived growth factor receptor alpha (PDGFRA) underlie tyrosine kinase inhibitor resistance in most GI stromal tumors (GISTs). Avapritinib selectively and potently ...
Somatic PIK3CA Mutations in Sporadic Cerebral Cavernous Malformations.
(MASSACHUSETTS MEDICAL SOC, 2021-09-09)
BACKGROUND: Cerebral cavernous malformations (CCMs) are common sporadic and inherited vascular malformations of the central nervous system. Although familial CCMs are linked to loss-of-function mutations in KRIT1 (CCM1), ...
PPM1D mutations are oncogenic drivers of de novo diffuse midline glioma formation.
(NATURE PORTFOLIO, 2022-02-01)
The role of PPM1D mutations in de novo gliomagenesis has not been systematically explored. Here we analyze whole genome sequences of 170 pediatric high-grade gliomas and find that truncating mutations in PPM1D that increase ...
Geospatial immune variability illuminates differential evolution of lung adenocarcinoma.
(NATURE PORTFOLIO, 2020-07-01)
Remarkable progress in molecular analyses has improved our understanding of the evolution of cancer cells toward immune escape1-5. However, the spatial configurations of immune and stromal cells, which may shed light on ...
KRAS and BRAF mutations in circulating tumour DNA from locally advanced rectal cancer.
(NATURE PORTFOLIO, 2018-01-23)
There are limited data on circulating, cell-free, tumour (ct)DNA analysis in locally advanced rectal cancer (LARC). Digital droplet (dd)PCR was used to investigate KRAS/BRAF mutations in ctDNA from baseline blood samples ...