Search
Results: 13
Understanding polygenic models, their development and the potential application of polygenic scores in healthcare.
The use of genomic information to better understand and prevent common complex diseases has been an ongoing goal of genetic research. Over the past few years, research in this area has proliferated with several proposed methods...
Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation.
Ronen Spiegel, Ann Saada, Padraig J Flannery, Florence Burté, Devorah Soiferman, Morad Khayat, Verónica Eisner, Eugene Vladovski, Robert W Taylor, Laurence A Bindoff, Avraham Shaag, Hanna Mandel, Ora Schuler-Furman, Stavit A Shalev, Orly Elpeleg, Patrick Yu-Wai-Man
Jun 28, 2018
BACKGROUND: Infantile-onset encephalopathy and hypertrophic cardiomyopathy caused by mitochondrial oxidative phosphorylation defects are genetically heterogeneous with defects involving both the mitochondrial and nuclear...
New paradigms for BRCA1/BRCA2 testing in women with ovarian cancer
Inga Plaskocinska, Hannah Shipman, James Drummond, Edward Thompson, Vanessa Buchanan, Barbara Newcombe, Charlotte Hodgkin, Elisa Barter, Paul Ridley, Rita Ng, Suzanne Miller, Adela Dann, Victoria Licence, Hayley Webb, Li Tee Tan, Margaret Daly, Sarah Ayers, Barnaby Rufford, Helena Earl, Christine Parkinson, Timothy Duncan, Mercedes Jimenez-Linan, Gurdeep S Sagoo, Stephen Abbs, Nicholas Hulbert-Williams, Paul Pharoah, Robin Crawford, James D Brenton, Marc Tischkowitz
Apr 28, 2016
Clinical genetics Genetic screening/counselling Obstetrics and Gynaecology Adult Aged Aged 80 and over BRCA1 Protein BRCA2 Protein Carcinoma Ovarian Epithelial Female Genetic Predisposition to Disease Genetic Testing Germ-Line Mutation Humans Middle Aged Neoplasms Glandular and Epithelial Ovarian Neoplasms
UKCGG Consensus Group guidelines for the management of patients with constitutional TP53 pathogenic variants.
Addition of a 161-SNP polygenic risk score to family history-based risk prediction
Inge MM Lakeman, Florentine S Hilbers, Mar Rodríguez-Girondo, Andrew Lee, Maaike PG Vreeswijk, Antoinette Hollestelle, Caroline Seynaeve, Hanne Meijers-Heijboer, Jan C Oosterwijk, Nicoline Hoogerbrugge, Edith Olah, Hans FA Vasen, Christi J van Asperen, Peter Devilee
Jun 20, 2019
Cancer: breast Clinical genetics Genetic epidemiology Genetic screening/counselling polygenic risk score Adult Aged Aged 80 and over Alleles Biomarkers Tumor Breast Neoplasms Case-Control Studies Clinical Decision-Making Disease Management Genetic Association Studies Genetic Predisposition to Disease Genotype Humans Middle Aged Pedigree Polymorphism Single Nucleotide Prognosis Proportional Hazards Models Risk Assessment Young Adult
Consensus for genes to be included on cancer panel tests offered by UK genetics services
Amy Taylor, Angela F Brady, Ian M Frayling, Helen Hanson, Marc Tischkowitz, Clare Turnbull, Lucy Side, UK Cancer Genetics Group (UK-CGG)
May 18, 2018
Genetic testing for hereditary cancer predisposition has evolved rapidly in recent years with the discovery of new genes, but there is much debate over the clinical utility of testing genes for which there are currently limited...
Diagnosis of 'possible' mitochondrial disease
Sumit Parikh, Amel Karaa, Amy Goldstein, Enrico Silvio Bertini, Patrick F Chinnery, John Christodoulou, Bruce H Cohen, Ryan L Davis, Marni J Falk, Carl Fratter, Rita Horvath, Mary Kay Koenig, Michaelangelo Mancuso, Shana McCormack, Elizabeth M McCormick, Robert McFarland, Victoria Nesbitt, Manuel Schiff, Hannah Steele, Silvia Stockler, Carolyn Sue, Mark Tarnopolsky, David R Thorburn, Jerry Vockley, Shamima Rahman
Mar 15, 2019
Primary genetic mitochondrial diseases are often difficult to diagnose, and the term 'possible' mitochondrial disease is used frequently by clinicians when such a diagnosis is suspected. There are now many known phenocopies of...
Delivering genomic medicine in the United Kingdom National Health Service
Caroline Pearce, Emma Goettke, Nina Hallowell, Pauline McCormack, Frances Flinter, Christopher McKevitt
Oct 01, 2020
PURPOSE: We sought to assess the readiness of the United Kingdom (UK) National Health Service to implement a Genomic Medicine Service. We conducted a systematic literature review to identify what is known about factors related...
Retrospective natural history of thymidine kinase 2 deficiency.
Caterina Garone, Robert W Taylor, Andrés Nascimento, Joanna Poulton, Carl Fratter, Cristina Domínguez-González, Julie C Evans, Mariana Loos, Pirjo Isohanni, Anu Suomalainen, Dipak Ram, M Imelda Hughes, Robert McFarland, Emanuele Barca, Carlos Lopez Gomez, Sandeep Jayawant, Neil D Thomas, Adnan Y Manzur, Karin Kleinsteuber, Miguel A Martin, Timothy Kerr, Grainne S Gorman, Ewen W Sommerville, Patrick F Chinnery, Monika Hofer, Christoph Karch, Jeffrey Ralph, Yolanda Cámara, Marcos Madruga-Garrido, Jana Domínguez-Carral, Carlos Ortez, Sonia Emperador, Julio Montoya, Anupam Chakrapani, Joshua F Kriger, Robert Schoenaker, Bruce Levin, John LP Thompson, Yuelin Long, Shamima Rahman, Maria Alice Donati, Salvatore DiMauro, Michio Hirano
Apr 17, 2019
BACKGROUND: Thymine kinase 2 (TK2) is a mitochondrial matrix protein encoded in nuclear DNA and phosphorylates the pyrimidine nucleosides: thymidine and deoxycytidine. Autosomal recessive TK2 mutations cause a spectrum of...
Clinical genetics metabolic disorders muscle disease Neuromuscular disease Adolescent Adult Age of Onset Aged Child Child Preschool Female Genes Recessive Genetic Association Studies Genetic Predisposition to Disease Genetic Testing Humans Infant Infant Newborn Male Middle Aged Mitochondrial Proteins Muscle Skeletal Muscular Diseases Mutation Phenotype Retrospective Studies Survival Analysis Thymidine Kinase Young Adult
Cancer Variant Interpretation Group UK (CanVIG-UK)
Alice Garrett, Alison Callaway, Miranda Durkie, Cankut Cubuk, Mary Alikian, George J Burghel, Rachel Robinson, Louise Izatt, Sabrina Talukdar, Lucy Side, Treena Cranston, Sheila Palmer-Smith, Diana Baralle, Ian R Berry, James Drummond, Andrew J Wallace, Gail Norbury, Diana M Eccles, Sian Ellard, Fiona Lalloo, D Gareth Evans, Emma Woodward, Marc Tischkowitz, Helen Hanson, Clare Turnbull, CanVIG-UK
Mar 16, 2020
Advances in technology have led to a massive expansion in the capacity for genomic analysis, with a commensurate fall in costs. The clinical indications for genomic testing have evolved markedly; the volume of clinical...
Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features.
Cristiane Benincá, Vanessa Zanette, Michele Brischigliaro, Mark Johnson, Aurelio Reyes, Daniel Almeida do Valle, Alan J Robinson, Andrea Degiorgi, Anna Yeates, Bruno Augusto Telles, Julien Prudent, Enrico Baruffini, Mara Lucia S F Santos, Ricardo Lehtonen R de Souza, Erika Fernandez-Vizarra, Alexander J Whitworth, Massimo Zeviani
Aug 12, 2020
BACKGROUND: Mitochondria provide ATP through the process of oxidative phosphorylation, physically located in the inner mitochondrial membrane (IMM). The mitochondrial contact site and organising system (MICOS) complex is known...
Hereditary diffuse gastric cancer
Rachel S van der Post, Ingrid P Vogelaar, Fátima Carneiro, Parry Guilford, David Huntsman, Nicoline Hoogerbrugge, Carlos Caldas, Karen E Chelcun Schreiber, Richard H Hardwick, Margreet Gem Ausems, Linda Bardram, Patrick R Benusiglio, Tanya M Bisseling, Vanessa Blair, Eveline Bleiker, Alex Boussioutas, Annemieke Cats, Daniel Coit, Lynn DeGregorio, Joana Figueiredo, James M Ford, Esther Heijkoop, Rosella Hermens, Bostjan Humar, Pardeep Kaurah, Gisella Keller, Jennifer Lai, Marjolijn JL Ligtenberg, Maria O'Donovan, Carla Oliveira, Hugo Pinheiro, Krish Ragunath, Esther Rasenberg, Susan Richardson, Franco Roviello, Hans Schackert, Raquel Seruca, Amy Taylor, Anouk Ter Huurne, Marc Tischkowitz, Sheena Tjon A Joe, Benjamin van Dijck, Nicole CT van Grieken, Richard van Hillegersberg, Johanna W van Sandick, Rianne Vehof, J Han van Krieken, Rebecca C Fitzgerald
Feb 13, 2020
Germline CDH1 mutations confer a high lifetime risk of developing diffuse gastric (DGC) and lobular breast cancer (LBC). A multidisciplinary workshop was organised to discuss genetic testing, surgery, surveillance strategies...
Cancer: breast Cancer: gastric Clinical genetics Diagnostics Stomach and duodenum Antigens CD Breast Neoplasms Cadherins Colorectal Neoplasms DNA Mutational Analysis Early Detection of Cancer Female Genetic Counseling Genetic Testing Germ-Line Mutation Heterozygote Humans Population Surveillance Practice Guidelines as Topic Pregnancy Stomach Neoplasms
Human variation in population-wide gene expression data predicts gene perturbation phenotype.
Lorenzo Bonaguro, Jonas Schulte-Schrepping, Caterina Carraro, Laura L Sun, Benedikt Reiz, Ioanna Gemünd, Adem Saglam, Souad Rahmouni, Michel Georges, Peer Arts, Alexander Hoischen, Leo Ab Joosten, Frank L van de Veerdonk, Mihai G Netea, Kristian Händler, Sach Mukherjee, Thomas Ulas, Joachim L Schultze, Anna C Aschenbrenner
Dec 08, 2022