Andrew Menzies
A5054740288- Cancer Genomics and Diagnostics
- Geological and Geochemical Analysis
- Geochemistry and Geologic Mapping
- earthquake and tectonic studies
- High-pressure geophysics and materials
- Genomics and Phylogenetic Studies
- Genetic factors in colorectal cancer
- Chromosomal and Genetic Variations
- Glioma Diagnosis and Treatment
- Epigenetics and DNA Methylation
- Evolution and Genetic Dynamics
- Genomics and Rare Diseases
- Mineralogy and Gemology Studies
- Mineral Processing and Grinding
- Genomic variations and chromosomal abnormalities
- Genomics and Chromatin Dynamics
- Genetics, Bioinformatics, and Biomedical Research
- Lung Cancer Treatments and Mutations
- Metal Extraction and Bioleaching
- Bioinformatics and Genomic Networks
- MicroRNA in disease regulation
- Christian Theology and Mission
- CRISPR and Genetic Engineering
- Genetics and Neurodevelopmental Disorders
- RNA modifications and cancer
Wellcome Sanger Institute
2014-2024
Bruker (Germany)
2019-2024
University of East Anglia
2022
Universidad Católica del Norte
2014-2022
Broad Institute
2020
University of Cape Town
2001-2019
Mintek
2004-2019
Durham University
2019
Wellcome Trust
2002-2008
Salisbury District Hospital
2007
Cancer is driven by somatically acquired point mutations and chromosomal rearrangements, conventionally thought to accumulate gradually over time. Using next-generation sequencing, we characterize a phenomenon, which term chromothripsis, whereby tens hundreds of genomic rearrangements occur in one-off cellular crisis. Rearrangements involving one or few chromosomes crisscross back forth across involved regions, generating frequent oscillations between two copy number states. These hallmarks...
COSMIC ( http://www.sanger.ac.uk/cosmic ) curates comprehensive information on somatic mutations in human cancer. Release v48 (July 2010) describes over 136 000 coding almost 542 tumour samples; of the 18 490 genes documented, 4803 (26%) have one or more mutations. Full scientific literature curations are available 83 major cancer and 49 fusion gene pairs (19 new 30 this year) number is continually increasing. Key amongst these TP53, now through a collaboration with IARC p53 database. In...
All cancers carry somatic mutations. A subset of these alterations, termed driver mutations, confer selective growth advantage and are implicated in cancer development, whereas the remainder passengers. Here we have sequenced genomes a malignant melanoma lymphoblastoid cell line from same person, providing first comprehensive catalogue mutations an individual cancer. The provides remarkable insights into forces that shaped this genome. dominant mutational signature reflects DNA damage due to...
How somatic mutations accumulate in normal cells is central to understanding cancer development but poorly understood. We performed ultradeep sequencing of 74 genes small (0.8 4.7 square millimeters) biopsies skin. Across 234 sun-exposed eyelid epidermis from four individuals, the burden averaged two six per megabase cell, similar that seen many cancers, and exhibited characteristic signatures exposure ultraviolet light. Remarkably, multiple are under strong positive selection even...
Cancer is driven by mutation. Worldwide, tobacco smoking the principal lifestyle exposure that causes cancer, exerting carcinogenicity through >60 chemicals bind and mutate DNA. Using massively parallel sequencing technology, we sequenced a small-cell lung cancer cell line, NCI-H209, to explore mutational burden associated with smoking. A total of 22,910 somatic substitutions were identified, including 134 in coding exons. Multiple mutation signatures testify cocktail carcinogens smoke their...
Abstract COSMIC is currently the most comprehensive global resource for information on somatic mutations in human cancer, combining curation of scientific literature with tumor resequencing data from Cancer Genome Project at Sanger Institute, U.K. Almost 4800 genes and 250000 tumors have been examined, resulting over 50000 available investigation. This can be accessed a number ways, convenient being Web‐based system which allows detailed mining, presenting results easily interpretable...
The catalogue of Somatic Mutations in Cancer (COSMIC) (http://www.sanger.ac.uk/cosmic/) is the largest public resource for information on somatically acquired mutations human cancer and available freely without restrictions. Currently (v43, August 2009), COSMIC contains details 1.5-million experiments performed through 13 423 genes almost 370 000 tumours, describing over 90 individual mutations. Data are gathered from two sources, publications scientific literature, (v43 7797 curated...
Abstract Protein kinases are frequently mutated in human cancer and inhibitors of mutant protein have proven to be effective anticancer drugs. We screened the coding sequences 518 (∼1.3 Mb DNA per sample) for somatic mutations 26 primary lung neoplasms seven cell lines. One hundred eighty-eight were detected 141 genes. Of these, 35 synonymous (silent) changes. This result indicates that most 188 “passenger” not causally implicated oncogenesis. However, an excess ∼40 nonsynonymous...
Abstract The panel of 60 human cancer cell lines (the NCI-60) assembled by the National Cancer Institute for anticancer drug discovery is a widely used resource. NCI-60 has been characterized pharmacologically and at molecular level more extensively than any other set lines. However, no systematic mutation analysis genes causally implicated in oncogenesis reported. This study reports sequence 24 known an assessment 4 homozygous deletions. One hundred thirty-seven oncogenic mutations were...
Abstract Malignant gliomas have a very poor prognosis. The current standard of care for these cancers consists extended adjuvant treatment with the alkylating agent temozolomide after surgical resection and radiotherapy. Although statistically significant increase in survival has been reported this regimen, nearly all recur become insensitive to further class agents. We sequenced 500 kb genomic DNA corresponding kinase domains 518 protein kinases each nine gliomas. Large numbers somatic...