• Publications
  • Influence
Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas
TLDR
The aim of this work is to contribute to the understanding of why certain types of mutations occur in people over a long period of time and to contribute towards the design of treatments for these diseases. Expand
Long noncoding RNA HOTTIP/HOXA13 expression is associated with disease progression and predicts outcome in hepatocellular carcinoma patients
TLDR
It is demonstrated that the levels of HOTTIP and HOXA13 are associated with HCC patients' clinical progression and predict disease outcome, and novel insights on the function of lncRNA‐driven hepatocarcinogenesis are provided. Expand
Germline mutations in the proof-reading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas
TLDR
A recently described group of hypermutant, microsatellite-stable CRCs is likely to be caused by somatic POLE mutations affecting the exonuclease domain, predicted to cause a defect in the correction of mispaired bases inserted during DNA replication. Expand
Exome sequencing of osteosarcoma reveals mutation signatures reminiscent of BRCA deficiency
TLDR
It is implied that multiple oncogenic pathways drive chromosomal instability during osteosarcoma evolution and result in the acquisition of BRCA-like traits, which could be therapeutically exploited. Expand
Activating mutations in the MAP‐kinase pathway define non‐ossifying fibroma of bone
TLDR
This study adds another benign lesion to the spectrum of KRAS‐ and MAP‐kinase signalling‐driven tumours by identifying hotspot KRAS, FGFR1 and NF1 mutations in patients with non‐ossifying fibroma. Expand
Technical and implementation issues in using next-generation sequencing of cancers in clinical practice
TLDR
Standardised cancer NGS data collection on an international scale would be a significant step towards optimising patient care and may simply move the bottleneck of personalised medicine from data acquisition to the identification of reliable biomarkers. Expand
Polymorphisms Near TBX5 and GDF7 Are Associated With Increased Risk for Barrett’s Esophagus
TLDR
2 loci associated with risk of Barrett's esophagus encode transcription factors involved in thoracic, diaphragmatic, and esophageal development or proteins involved in the inflammatory response. Expand
Recurrent chromosomal gains and heterogeneous driver mutations characterise papillary renal cancer evolution
TLDR
The predominance of large copy number variants as the major drivers for pRCC highlights an unusual mode of tumorigenesis that may challenge precision medicine approaches. Expand
Combined analysis of specific KRAS mutation, BRAF and microsatellite instability identifies prognostic subgroups of sporadic and hereditary colorectal cancer
TLDR
Specific KRAS mutation is an informative prognostic factor in both sporadic and hereditary CRC and applied in an algorithm with BRAFV600E and MSI may identify sporadic CRC patients with poor clinical outcome. Expand
Differential clonal evolution in oesophageal cancers in response to neo-adjuvant chemotherapy
How chemotherapy affects carcinoma genomes is largely unknown. Here we report whole-exome and deep sequencing of 30 paired oesophageal adenocarcinomas sampled before and after neo-adjuvantExpand
...
1
2
3
4
5
...