Patterns of somatic mutation in human cancer genomes
…, A Small, C Tofts, J Varian, T Webb, S West, S Widaa… - Nature, 2007 - nature.com
Cancers arise owing to mutations in a subset of genes that confer growth advantage. The
availability of the human genome sequence led us to propose that systematic resequencing of …
availability of the human genome sequence led us to propose that systematic resequencing of …
High burden and pervasive positive selection of somatic mutations in normal human skin
How somatic mutations accumulate in normal cells is central to understanding cancer
development but is poorly understood. We performed ultradeep sequencing of 74 cancer genes in …
development but is poorly understood. We performed ultradeep sequencing of 74 cancer genes in …
Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility
…, M Waller, P Weston, P Whittaker, S Widaa… - Nature …, 2011 - nature.com
Ankylosing spondylitis is a common form of inflammatory arthritis predominantly affecting
the spine and pelvis that occurs in approximately 5 out of 1,000 adults of European descent. …
the spine and pelvis that occurs in approximately 5 out of 1,000 adults of European descent. …
Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer
…, R Turner, K Turrell, J Varian, S West, S Widaa… - Nature …, 2009 - nature.com
Somatically acquired epigenetic changes are present in many cancers. Epigenetic regulation
is maintained via post-translational modifications of core histones. Here, we describe …
is maintained via post-translational modifications of core histones. Here, we describe …
Intragenic ERBB2 kinase mutations in tumours
…, Y Stephens, C Tofts, J Varian, S West, S Widaa… - Nature, 2004 - nature.com
The protein-kinase family is the most frequently mutated gene family found in human cancer
and faulty kinase enzymes are being investigated as promising targets for the design of …
and faulty kinase enzymes are being investigated as promising targets for the design of …
[HTML][HTML] Signatures of mutation and selection in the cancer genome
… one of three states: no deletion (w), a small deletion (s) or a large deletion (l). We use W,
S and L to represent the probabilistic events, respectively. Therefore each sample can be …
S and L to represent the probabilistic events, respectively. Therefore each sample can be …
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
…, R Turner, K Turrell, J Varian, S West, S Widaa… - Nature …, 2009 - nature.com
Large-scale systematic resequencing has been proposed as the key future strategy for the
discovery of rare, disease-causing sequence variants across the spectrum of human complex …
discovery of rare, disease-causing sequence variants across the spectrum of human complex …
Somatic mutations of the protein kinase gene family in human lung cancer
…, C Tofts, J Varian, A Webb, S West, S Widaa… - Cancer research, 2005 - AACR
Protein kinases are frequently mutated in human cancer and inhibitors of mutant protein
kinases have proven to be effective anticancer drugs. We screened the coding sequences of …
kinases have proven to be effective anticancer drugs. We screened the coding sequences of …
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment
…, M Madison, T Mironenko, J Varian, S West, S Widaa… - Nature …, 2008 - nature.com
… 35 cycles (denaturation, 94 C for 30 s; annealing, at specific melting temperature for each
pair of primers for 30 s; extension, 72 C for 30 s). PCR products were separated on an agarose …
pair of primers for 30 s; extension, 72 C for 30 s). PCR products were separated on an agarose …
A Hypermutation Phenotype and Somatic MSH6 Mutations in Recurrent Human Malignant Gliomas after Alkylator Chemotherapy
…, H Solomon, C Tofts, J Varian, S West, S Widaa… - Cancer research, 2006 - AACR
Malignant gliomas have a very poor prognosis. The current standard of care for these
cancers consists of extended adjuvant treatment with the alkylating agent temozolomide after …
cancers consists of extended adjuvant treatment with the alkylating agent temozolomide after …