• Publications
  • Influence
Methylation-specific PCR: a novel PCR assay for methylation status of CpG islands.
TLDR
The use of MSP is demonstrated to identify promoter region hypermethylation changes associated with transcriptional inactivation in four important tumor suppressor genes (p16, p15, E-cadherin and von Hippel-Lindau) in human cancer.
Integrated Genomic Analyses of Ovarian Carcinoma
TLDR
It is reported that high-grade serous ovarian cancer is characterized by TP53 mutations in almost all tumours (96%); low prevalence but statistically recurrent somatic mutations in nine further genes including NF1, BRCA1,BRCA2, RB1 and CDK12; 113 significant focal DNA copy number aberrations; and promoter methylation events involving 168 genes.
CpG island methylator phenotype in colorectal cancer.
TLDR
A pathway in colorectal cancer appears to be responsible for the majority of sporadic tumors with mismatch repair deficiency, and is defined as CpG island methylator phenotype (CIMP); CIMP+ tumors also have a high incidence of p16 and THBS1 methylation, and they include the majority with microsatellite instability related to hMLH 1 methylation.
Gene silencing in cancer in association with promoter hypermethylation.
TLDR
The mechanisms of gene silencing in cancer and clinical applications of this phenomenon are reviewed, especially tumor-suppressor genes.
Comprehensive genomic characterization defines human glioblastoma genes and core pathways
TLDR
The interim integrative analysis of DNA copy number, gene expression and DNA methylation aberrations in 206 glioblastomas reveals a link between MGMT promoter methylation and a hypermutator phenotype consequent to mismatch repair deficiency in treated gliobeasts, demonstrating that it can rapidly expand knowledge of the molecular basis of cancer.
A gene hypermethylation profile of human cancer.
TLDR
An unusual view of the pervasiveness of DNA alterations, in this case an epigenetic change, in human cancer is provided and a powerful set of markers are provided to outline the disruption of critical pathways in tumorigenesis and for derivation of sensitive molecular detection strategies for virtually every human tumor type.
Incidence and functional consequences of hMLH1 promoter hypermethylation in colorectal carcinoma.
TLDR
The results suggest that microsatellite instability in sporadic colorectal cancer often results from epigenetic inactivation of hMLH1 in association with DNA methylation.
Comprehensive genomic characterization of head and neck squamous cell carcinomas
TLDR
It is shown that human-papillomavirus-associated tumours are dominated by helical domain mutations of the oncogene PIK3CA, novel alterations involving loss of TRAF3, and amplification of the cell cycle gene E2F1.
Inactivation of the DNA-repair gene MGMT and the clinical response of gliomas to alkylating agents.
TLDR
Methylation of the MGMT promoter in gliomas is a useful predictor of the responsiveness of the tumors to alkylating agents and an independent and stronger prognostic factor than age, stage, tumor grade, or performance status.
...
1
2
3
4
5
...