Browsing Molecular Pathology by issue date
Now showing items 41-60 of 888
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Development of synchronous VHL syndrome tumors reveals contingencies and constraints to tumor evolution.
(BMC, 2014-08-27)BACKGROUND: Genomic analysis of multi-focal renal cell carcinomas from an individual with a germline VHL mutation offers a unique opportunity to study tumor evolution. RESULTS: We perform whole exome sequencing on four ... -
DAISY: picking synthetic lethals from cancer genomes.
(CELL PRESS, 2014-09-08)A better understanding of genetic interactions in cancer might help identify new therapeutic approaches that exploit the concept of synthetic lethality. Ruppin and colleagues have developed a new computational method, ... -
Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer.
(NATURE PUBLISHING GROUP, 2014-09-11)We conducted imputation to the 1000 Genomes Project of four genome-wide association studies of lung cancer in populations of European ancestry (11,348 cases and 15,861 controls) and genotyped an additional 10,246 cases and ... -
Systematic evaluation of quantotypic peptides for targeted analysis of the human kinome.
(NATURE PUBLISHING GROUP, 2014-10-01)In targeted proteomics it is critical that peptides are not only proteotypic but also accurately represent the level of the protein (quantotypic). Numerous approaches are used to identify proteotypic peptides, but quantotypic ... -
TP53 Mutational Status Is a Potential Marker for Risk Stratification in Wilms Tumour with Diffuse Anaplasia
(2014-10-01)Purpose: The presence of diffuse anaplasia in Wilms tumours (DAWT) is associated with TP53 mutations and poor outcome. As patients receive intensified treatment, we sought to identify whether TP53 mutational status confers ... -
Sex specific retinoic acid signaling is required for the initiation of urogenital sinus bud development.
(ACADEMIC PRESS INC ELSEVIER SCIENCE, 2014-11-15)The mammalian urogenital sinus (UGS) develops in a sex specific manner, giving rise to the prostate in the male and the sinus vagina in the embryonic female. Androgens, produced by the embryonic testis, have been shown to ... -
Tumour responses following a steroid switch from prednisone to dexamethasone in castration-resistant prostate cancer patients progressing on abiraterone.
(NATURE PUBLISHING GROUP, 2014-12-09)BACKGROUND: Abiraterone is a CYP17A1 inhibitor that improves survival in castration-resistant prostate cancer (CRPC). Abiraterone is licensed in combination with prednisone 5 mg twice daily to prevent a syndrome of secondary ... -
The cylindromatosis gene product, CYLD, interacts with MIB2 to regulate notch signalling.
(IMPACT JOURNALS LLC, 2014-12-15)CYLD, an ubiquitin hydrolase, has an expanding repertoire of regulatory roles in cell signalling and is dysregulated in a number of cancers. To dissect CYLD function we used a proteomics approach to identify CYLD interacting ... -
Contributions to drug resistance in glioblastoma derived from malignant cells in the sub-ependymal zone.
(AMER ASSOC CANCER RESEARCH, 2015-01-01)Glioblastoma, the most common and aggressive adult brain tumor, is characterized by extreme phenotypic diversity and treatment failure. Through fluorescence-guided resection, we identified fluorescent tissue in the ... -
Combined MYC and P53 defects emerge at medulloblastoma relapse and define rapidly progressive, therapeutically targetable disease.
(CELL PRESS, 2015-01-12)We undertook a comprehensive clinical and biological investigation of serial medulloblastoma biopsies obtained at diagnosis and relapse. Combined MYC family amplifications and P53 pathway defects commonly emerged at relapse, ... -
Genetic and functional diversity of propagating cells in glioblastoma.
(CELL PRESS, 2015-01-13)Glioblastoma (GBM) is a lethal malignancy whose clinical intransigence has been linked to extensive intraclonal genetic and phenotypic diversity and the common emergence of therapeutic resistance. This interpretation ... -
Whole-exome sequencing reveals the mutational spectrum of testicular germ cell tumours.
(NATURE PUBLISHING GROUP, 2015-01-22)Testicular germ cell tumours (TGCTs) are the most common cancer in young men. Here we perform whole-exome sequencing (WES) of 42 TGCTs to comprehensively study the cancer's mutational profile. The mutation rate is uniformly ... -
Comparative methylome analysis identifies new tumour subtypes and biomarkers for transformation of nephrogenic rests into Wilms tumour
(2015-02-01)Background: Wilms tumours (WTs) are characterised by several hallmarks that suggest epimutations such as aberrant DNA methylation are involved in tumour progression: loss of imprinting at 11p15, lack of recurrent mutations ... -
Capture Hi-C identifies the chromatin interactome of colorectal cancer risk loci.
(NATURE PORTFOLIO, 2015-02-19)Multiple regulatory elements distant from their targets on the linear genome can influence the expression of a single gene through chromatin looping. Chromosome conformation capture implemented in Hi-C allows for genome-wide ... -
SF3B1 mutations constitute a novel therapeutic target in breast cancer.
(WILEY, 2015-03-01)Mutations in genes encoding proteins involved in RNA splicing have been found to occur at relatively high frequencies in several tumour types including myelodysplastic syndromes, chronic lymphocytic leukaemia, uveal melanoma, ... -
Multiple mechanisms of MYCN dysregulation in Wilms tumour
(2015-03-01)Genomic gain of the proto-oncogene transcription factor gene MYCN is associated with poor prognosis in several childhood cancers. Here we present a comprehensive copy number analysis of MYCN in Wilms tumour (WT), demonstrating ... -
Androgen receptor expression in circulating tumour cells from castration-resistant prostate cancer patients treated with novel endocrine agents.
(NATURE PUBLISHING GROUP, 2015-03-31)BACKGROUND: Abiraterone and enzalutamide are novel endocrine treatments that abrogate androgen receptor (AR) signalling in castration-resistant prostate cancer (CRPC). Here, we developed a circulating tumour cells (CTCs)-based ... -
Direct involvement of retinoblastoma family proteins in DNA repair by non-homologous end-joining.
(CELL PRESS, 2015-03-31)Deficiencies in DNA double-strand break (DSB) repair lead to genetic instability, a recognized cause of cancer initiation and evolution. We report that the retinoblastoma tumor suppressor protein (RB1) is required for DNA ... -
TransHERA: The cell cycle regulator p27 predicts benefit from trastuzumab treatment in HER2-positive early breast cancer patients treated within the HERA trial
(AMER ASSOC CANCER RESEARCH, 2015-05-01) -
Oncogenic KRAS sensitizes premalignant, but not malignant cells, to Noxa-dependent apoptosis through the activation of the MEK/ERK pathway.
(IMPACT JOURNALS LLC, 2015-05-10)KRAS is mutated in about 20-25% of all human cancers and especially in pancreatic, lung and colorectal tumors. Oncogenic KRAS stimulates several pro-survival pathways, but it also triggers the trans-activation of pro-apoptotic ...