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 …

High burden and pervasive positive selection of somatic mutations in normal human skin

…, JM Tubio, L Stebbings, A Menzies, S Widaa… - Science, 2015 - science.org
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 …

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. …

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 …

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 …

[HTML][HTML] Signatures of mutation and selection in the cancer genome

…, S Widaa, J Hinton, C Fahey, B Fu, S Swamy… - Nature, 2010 - nature.com
… 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 …

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 …

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 …

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 …

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 …