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Results: 6
Multilocus Inherited Neoplasia Allele Syndrome (MINAS)
Anthony McGuigan, James Whitworth, Avgi Andreou, Timothy Hearn, Genomics England Research Consortium, Marc Tischkowitz, Eamonn R Maher
Mar 09, 2022
Sample size estimation using a latent variable model for mixed outcome co-primary, multiple primary and composite endpoints.
Mixed outcome endpoints that combine multiple continuous and discrete components are often employed as primary outcome measures in clinical trials. These may be in the form of co-primary endpoints, which conclude effectiveness...
Analysis of the genetic phylogeny of multifocal prostate cancer identifies multiple independent clonal expansions in neoplastic and morphologically normal prostate tissue.
Colin S Cooper, Rosalind Eeles, David C Wedge, Peter Van Loo, Gunes Gundem, Ludmil B Alexandrov, Barbara Kremeyer, Adam Butler, Andrew G Lynch, Niedzica Camacho, Charlie E Massie, Jonathan Kay, Hayley J Luxton, Sandra Edwards, Zsofia Kote-Jarai, Nening Dennis, Sue Merson, Daniel Leongamornlert, Jorge Zamora, Cathy Corbishley, Sarah Thomas, Serena Nik-Zainal, Sarah O'Meara, Lucy Matthews, Jeremy Clark, Rachel Hurst, Richard Mithen, Robert G Bristow, Paul C Boutros, Michael Fraser, Susanna Cooke, Keiran Raine, David Jones, Andrew Menzies, Lucy Stebbings, Jon Hinton, Jon Teague, Stuart McLaren, Laura Mudie, Claire Hardy, Elizabeth Anderson, Olivia Joseph, Victoria Goody, Ben Robinson, Mark Maddison, Stephen Gamble, Christopher Greenman, Dan Berney, Steven Hazell, Naomi Livni, ICGC Prostate Group, Cyril Fisher, Christopher Ogden, Pardeep Kumar, Alan Thompson, Christopher Woodhouse, David Nicol, Erik Mayer, Tim Dudderidge, Nimish C Shah, Vincent Gnanapragasam, Thierry Voet, Peter Campbell, Andrew Futreal, Douglas Easton, Anne Y Warren, Christopher S Foster, Michael R Stratton, Hayley C Whitaker, Ultan McDermott, Daniel S Brewer, David E Neal
Nov 01, 2018
Genome-wide DNA sequencing was used to decrypt the phylogeny of multiple samples from distinct areas of cancer and morphologically normal tissue taken from the prostates of three men. Mutations were present at high levels in...
Uncovering the genomic heterogeneity of multifocal breast cancer.
Christine Desmedt, Debora Fumagalli, Elisabetta Pietri, Gabriele Zoppoli, David Brown, Serena Nik-Zainal, Gunes Gundem, Françoise Rothé, Samira Majjaj, Anna Garuti, Enrico Carminati, Sherene Loi, Thomas Van Brussel, Bram Boeckx, Marion Maetens, Laura Mudie, Delphine Vincent, Naima Kheddoumi, Luigi Serra, Ilaria Massa, Alberto Ballestrero, Dino Amadori, Roberto Salgado, Alexandre de Wind, Diether Lambrechts, Martine Piccart, Denis Larsimont, Peter J Campbell, Christos Sotiriou
Nov 01, 2018
Multifocal breast cancer (MFBC), defined as multiple synchronous unilateral lesions of invasive breast cancer, is relatively frequent and has been associated with more aggressive features than unifocal cancer. Here, we aimed to...
Humans Carcinoma Ductal breast Carcinoma Intraductal Noninfiltrating Breast Neoplasms Neoplasms Multiple Primary Genetic Predisposition to Disease Receptor ErbB-2 Receptors Estrogen Retrospective Studies Predictive Value of Tests DNA Mutational Analysis Phenotype Mutation Adult Aged Middle Aged Female Genome-Wide Association Study High-Throughput Nucleotide Sequencing Neoplasm Grading Biomarkers Tumor
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.
James Whitworth, Philip S Smith, Jose-Ezequiel Martin, Hannah West, Andrea Luchetti, Faye Rodger, Graeme Clark, Keren Carss, Jonathan Stephens, Kathleen Stirrups, Chris Penkett, Rutendo Mapeta, Sofie Ashford, Karyn Megy, Hassan Shakeel, Munaza Ahmed, Julian Adlard, Julian Barwell, Carole Brewer, Ruth T Casey, Ruth Armstrong, Trevor Cole, Dafydd Gareth Evans, Florentia Fostira, Lynn Greenhalgh, Helen Hanson, Alex Henderson, Jonathan Hoffman, Louise Izatt, Ajith Kumar, Ava Kwong, Fiona Lalloo, Kai Ren Ong, Joan Paterson, Soo-Mi Park, Rakefet Chen-Shtoyerman, Claire Searle, Lucy Side, Anne-Bine Skytte, Katie Snape, Emma R Woodward, NIHR BioResource Rare Diseases Consortium, Marc D Tischkowitz, Eamonn R Maher
Aug 16, 2018
Hereditary renal cell carcinoma syndromes
Eamonn R Maher
Jul 10, 2018
PURPOSE: Genetic factors have been implicated in the pathogenesis of renal cell carcinoma (RCC), with around 3% of cases having a family history. A greater knowledge of the genetics of inherited RCC has the potential to...
Familial syndromic renal cancer Genetics von Hippel–Lindau review Age of Onset Birt-Hogg-Dube Syndrome Carcinoma Renal Cell Disease Management Early Detection of Cancer Fumarate Hydratase Humans Kidney Neoplasms Leiomyomatosis Neoplasms Multiple Primary Neoplastic Syndromes Hereditary Proto-Oncogene Proteins Proto-Oncogene Proteins c-met Skin Neoplasms Succinate Dehydrogenase Tumor Suppressor Proteins Ubiquitin Thiolesterase Uterine Neoplasms Von Hippel-Lindau Tumor Suppressor Protein von Hippel-Lindau Disease