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Corrections to: Use of the BOADICEA Web Application in clinical practice
Anne Brédart, Jean-Luc Kop, Antonis C Antoniou, Alex P Cunningham, Antoine de Pauw, Marc Tischkowitz, Hans Ehrencrona, Sylvie Dolbeault, Léonore Robieux, Kerstin Rhiem, Douglas F Easton, Peter Devilee, Dominique Stoppa-Lyonnet, Rita Schmutlzer
Jan 23, 2018
The article "Use of the BOADICEA Web Application in clinical practice: appraisals by clinicians from various countries" written by Anne Brédart · Jean‑Luc Kop · Antonis C. Antoniou · Alex P. Cunningham · Antoine De Pauw ·Marc...
f-scLVM
Florian Buettner, Naruemon Pratanwanich, Davis J McCarthy, John C Marioni, Oliver Stegle
Mar 26, 2018
Single-cell RNA-sequencing (scRNA-seq) allows studying heterogeneity in gene expression in large cell populations. Such heterogeneity can arise due to technical or biological factors, making decomposing sources of variation...
Gene set annotations Single-cell RNA-seq Sparse factor analysis Animals Computer Simulation Databases as Topic Factor Analysis Statistical Gene Expression Regulation Mice Models Theoretical Mouse embryonic stem cells Neurons Reproducibility of Results Sequence Analysis RNA Single-Cell Analysis Software
Clinical software development for the Web
More on Co-Occurrence of COMT and BRCA1/2 Variants in a Population.
Movassagh et al. report an association between the COMT variant rs165631 and a reduced risk of breast cancer among female carriers of a BRCA1/2 pathogenic variant.
Detecting rare copy number variants from Illumina genotyping arrays with the CamCNV pipeline
The intensities from genotyping array data can be used to detect copy number variants (CNVs) but a high level of noise in the data and overlap between different copy-number intensity distributions produces unreliable calls...
BRCA1 and BRCA2 mutation predictions using the BOADICEA and BRCAPRO models and penetrance estimation in high-risk French-Canadian families.
Antonis C Antoniou, Francine Durocher, Paula Smith, Jacques Simard, Douglas F Easton, INHERIT BRCAs program members
Jun 14, 2011
Incorporating tumour pathology information into breast cancer risk prediction algorithms.
Nasim Mavaddat, Timothy R Rebbeck, Sunil R Lakhani, Douglas F Easton, Antonis C Antoniou
Jun 17, 2011
Synthesis and characterization of fluorinated β-ketoiminate zinc precursors and their utility in the AP-MOCVD growth of ZnO
Andrew L. Johnson, Samuel D. Cosham, Gabriele Kociok-Kohn, Jeff A. Hamilton, Michael S. Hill, Kieran C. Molloy, Remi Castaing
Sep 01, 2015
A novel family of zinc bis beta-ketoiminate complexes 2b-2h have been synthesized by reaction of the isolated free ligands (1a-h) with dimethylzinc. The isolated zinc complexes were characterized by elemental analysis, NMR...
Synthesis and characterization of fluorinated β-ketoiminate zinc precursors and their utility in the AP-MOCVD growth of ZnO
Andrew L. Johnson, Samuel D. Cosham, Gabriele Kociok-Kohn, Jeff A. Hamilton, Michael S. Hill, Kieran C. Molloy, Remi Castaing
Sep 01, 2015
A novel family of zinc bis beta-ketoiminate complexes 2b-2h have been synthesized by reaction of the isolated free ligands (1a-h) with dimethylzinc. The isolated zinc complexes were characterized by elemental analysis, NMR...
Letter to the editor
Daniele Giardiello, Antonis C Antoniou, Luigi Mariani, Douglas F Easton, Ewout W Steyerberg
Mar 05, 2020
A recent paper [1] compared two well-known breast cancer risk prediction models (BCRAT and BOADICEA) with eight different machine learning (ML) methods. The authors found a striking improvement in cancer prediction with ML....
The Privileged Life of a Theoretical Observer.
Douglas Gough
Aug 17, 2022
This is a summary of my scientific career, biased by my personal view of events and unashamedly concentrating on those aspects of some of the scientific developments to which I have contributed. A selective unbiased alternative...
Genomic risk prediction of coronary artery disease in women with breast cancer
Lathan Liou, Stephen Kaptoge, Joe Dennis, Mitul Shah, Jonathan Tyrer, Michael Inouye, Douglas F Easton, Paul DP Pharoah
Sep 05, 2021
BACKGROUND: Advancements in cancer therapeutics have resulted in increases in cancer-related survival; however, there is a growing clinical dilemma. The current balancing of survival benefits and future cardiotoxic harms of...
Breast Cancer cardiovascular disease Coronary Artery Disease coronary heart disease polygenic risk score SEARCH Breast Neoplasms Cancer Survivors Coronary Artery Disease Female Genome-Wide Association Study Genomics Genotype Humans Incidence Middle Aged Multifactorial Inheritance Proportional Hazards Models Prospective Studies Risk Factors United Kingdom
The Privileged Life of a Theoretical Observer
Abstract This is a summary of my scientific career, biased by my personal view of events and unashamedly concentrating on those aspects of some of the scientific developments to which I have...
Douglas Gough
Jul 26, 2022
Common variation in EMSY and risk of breast and ovarian cancer
Patrick R Benusiglio, Fabienne Lesueur, Craig Luccarini, Joan McIntosh, Robert N Luben, Paula Smith, Alison Dunning, Douglas F Easton, Bruce AJ Ponder, Paul D Pharoah
Jun 16, 2011
BACKGROUND: EMSY could be involved in low-level susceptibility to breast and ovarian cancer. Gene amplification is seen in a proportion of breast and ovarian tumours and correlates with poor prognosis in breast cancer patients....
Adolescent Adult Aged Alleles Breast Neoplasms Case-Control Studies Chromatography High Pressure Liquid Female Genetic Predisposition to Disease genetic variation Genotype Haplotypes Homozygote Humans Linkage Disequilibrium Middle Aged Models Genetic Models Statistical Neoplasm Proteins Nuclear Proteins Ovarian Neoplasms Polymorphism Genetic Polymorphism Single Nucleotide Prognosis Repressor Proteins risk Transcriptional Activation
Potential of polygenic risk scores for improving population estimates of women's breast cancer genetic risks.
Michael Wolfson, Steve Gribble, Nora Pashayan, Douglas F Easton, Antonis C Antoniou, Andrew Lee, Sasha van Katwyk, Jacques Simard
Jul 09, 2021
PURPOSE: Breast cancer risk has conventionally been assessed using family history (FH) and rare high/moderate penetrance pathogenic variants (PVs), notably in BRCA1/2, and more recently PALB2, CHEK2, and ATM. In addition to...
Large-scale cross-cancer fine-mapping of the 5p15.33 region reveals multiple independent signals
Genome-wide association studies (GWAS) have identified thousands of cancer risk loci revealing many 102 risk regions shared across multiple cancers. Characterizing the cross-cancer shared genetic basis can increase our...
Breast Cancer Association Consortium (BCAC) Colorectal Transdisciplinary Study (CORECT) Colon Cancer Family Registry Study (CCFR) Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO) Endometrial Cancer Association Consortium (ECAC) Esophageal Cancer GWAS Consortium Glioma International Case Control Consortium (GICC) Head-Neck Cancer GWAS Consortium International Lung Cancer Consortium (ILCCO) Melanoma GWAS Consortium Ovarian Cancer Association Consortium (OCAC) Pancreatic Cancer Case-Control Consortium (PANC4) Pancreatic Cancer Cohort Consortium (PanScan) PRACTICAL consortium cruk BPC3 CAPS PEGASUS Renal Cancer GWAS Consortium
Protein-Coding Variants Implicate Novel Genes Related to Lipid Homeostasis Contributing to Body Fat Distribution
Body fat distribution is a heritable risk factor for a range of adverse health consequences, including hyperlipidemia and type 2 diabetes. To identify protein-coding variants associated with body fat distribution, assessed by...
Clinical Research Nutrition Biotechnology Human Genome Prevention Genetics obesity 2.1 Biological and endogenous factors 2 Aetiology Metabolic and endocrine Cardiovascular Animals Body Fat Distribution Body Mass Index Case-Control Studies Drosophila Exome Female Gene Frequency Genetic Predisposition to Disease genetic variation Genome-Wide Association Study Homeostasis Humans Lipids Male Proteins Risk Factors Waist-Hip Ratio
Homer F. Swift, 1920
The Rockefeller University
Jan 01, 0001
Homer F. Swift, M.D. Trench Fever
Lecture delivered January 10th, 1920
Published by: J.B. Lippincott Company
Incorporating truncating variants in PALB2, CHEK2, and ATM into the BOADICEA breast cancer risk model.
Andrew J Lee, Alex P Cunningham, Marc Tischkowitz, Jacques Simard, Paul D Pharoah, Douglas F Easton, Antonis C Antoniou
Feb 04, 2016
Adult Age Factors Aged Aged 80 and over Ataxia Telangiectasia Mutated Proteins BRCA1 Protein BRCA2 Protein Breast Neoplasms Checkpoint Kinase 2 Fanconi Anemia Complementation Group N Protein Female Genetic Predisposition to Disease Genetic Testing Humans Middle Aged Mutation Nuclear Proteins Risk Assessment Tumor Suppressor Proteins
Systematics of the α′ expansion in F-theory
Abstract: Extracting reliable low-energy information from string compactifications notoriously requires a detailed understanding of the UV sensitivity of the corresponding effective field theories. Despite past efforts in...
Genomic risk prediction of coronary artery disease in women with breast cancer
Lathan Liou, Stephen Kaptoge, Joe Dennis, Mitul Shah, Jonathan Tyrer, Michael Inouye, Douglas F. Easton, Paul D. P. Pharoah
Oct 01, 2021
Abstract: Background: Advancements in cancer therapeutics have resulted in increases in cancer-related survival; however, there is a growing clinical dilemma. The current balancing of survival benefits and future cardiotoxic...
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