Chey Loveday
A5078679276- Epigenetics and DNA Methylation
- Cancer Genomics and Diagnostics
- Testicular diseases and treatments
- Genomics and Rare Diseases
- COVID-19 and healthcare impacts
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Cancer-related Molecular Pathways
- Molecular Biology Techniques and Applications
- BRCA gene mutations in cancer
- Genomic variations and chromosomal abnormalities
- RNA modifications and cancer
- Renal and related cancers
- Sexual Differentiation and Disorders
- DNA Repair Mechanisms
- Economic and Financial Impacts of Cancer
- Genetic factors in colorectal cancer
- Genetics and Neurodevelopmental Disorders
- Nutrition, Genetics, and Disease
- Genomics and Chromatin Dynamics
- Cancer-related gene regulation
- Multiple Myeloma Research and Treatments
- Congenital heart defects research
- Acute Myeloid Leukemia Research
- Ovarian cancer diagnosis and treatment
- Genetics, Bioinformatics, and Biomedical Research
Institute of Cancer Research
2011-2025
William Harvey Research Institute
2025
University of Wisconsin–Madison
2022
Institute of Cancer Research
2019-2020
Institute of Cytology and Genetics
2015-2019
British Columbia Children's Hospital
2018
University of British Columbia
2018
ARUP Laboratories (United States)
2018
Queen Mary University of London
2013
Royal Marsden Hospital
2012
•Lockdown and re-deployment due to the COVID-19 pandemic have caused significant disruption cancer diagnosis management.•A 3-month delay surgery across all stage 1–3 cancers is estimated cause >4700 attributable deaths per year in England.•The impact on life-years lost of 3–6-month for disease varies widely between tumour types.•Strategic prioritisation patients diagnostics has potential mitigate delays.•The resource-adjusted benefit avoiding management compares favourably with admission...
It is increasingly common in oncology practice to perform tumour sequencing using large cancer panels. For pathogenic sequence variants susceptibility genes identified on tumour-only sequencing, it often unclear whether they are of somatic or constitutional (germline) origin. There wide-spread disparity regarding both the extent which systematic 'germline-focussed analysis' carried out upon data and for follow-up analysis a germline sample out. Here we present analyses paired from 17152...
To explore the genetic architecture of human overgrowth syndromes and growth control, we performed experimental bioinformatic analyses 710 individuals with (height and/or head circumference ≥+2 SD) intellectual disability (OGID). We identified a causal mutation in 1 14 genes 50% (353/710). This includes HIST1H1E, encoding histone H1.4, which has not been associated developmental disorder previously. The pathogenic HIST1H1E mutations are predicted to result product that is less effective...
The European Society for Medical Oncology Precision Medicine Working Group (ESMO PMWG) was reconvened to update its 2018/19 recommendations on follow-up of putative germline variants detected tumour-only sequencing, which were based an analysis 17 152 cancers.
Katrina Tatton-Brown 1,2 , Sandra Hanks 1 Elise Ruark Anna Zachariou Silvana Del Vecchio Duarte Emma Ramsay Katie Snape Anne Murray Elizabeth R Perdeaux Sheila Seal Chey Loveday Siddharth Banka 3 Carol Clericuzio 4 Frances Flinter 5 Alex Magee 6 Vivienne McConnell Michael Patton 2 Wolfgang Raith 7 Julia Rankin 8 Miranda Splitt 9 Volker Strenger 10 Clare Taylor 11 Patricia Wheeler 12 I Karen Temple 13 Trevor Cole 14 The Childhood Overgrowth Collaboration 15 Jenny Douglas and Nazneen Rahman...
The purpose of this study was to estimate precise age-specific tubo-ovarian carcinoma (TOC) and breast cancer (BC) risks for carriers pathogenic variants in RAD51C RAD51D.
Tatton-Brown-Rahman syndrome (TBRS; OMIM 615879), also known as the DNMT3A-overgrowth syndrome, is an overgrowth intellectual disability first described in 2014 with a report of 13 individuals constitutive heterozygous DNMT3A variants. Here we have undertaken detailed clinical study 55 de novoDNMT3A variants, including previously reported individuals. An and were >80% TBRS designated major associations. Additional frequent associations (reported 20-80% individuals) included evolving facial...
To evaluate the impact of faecal immunochemical testing (FIT) prioritisation to mitigate delays in colorectal cancer (CRC) urgent diagnostic (2-week-wait (2WW)) pathway consequent from COVID-19 pandemic.
PurposeWhere multiple in silico tools are concordant, the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) framework affords supporting evidence toward pathogenicity or benignity, equivalent to a likelihood ratio ~2. However, limited availability "clinical truth sets" prior use tool training limits their utility evaluation performance.MethodsWe created set 9,436 missense variants classified as deleterious tolerated clinically validated...
Somatic defects at five loci, WT1, CTNNB1, WTX, TP53 and the imprinted 11p15 region, are implicated in Wilms tumor, commonest childhood kidney cancer. In this study we analysed all loci 120 tumors. We identified epigenetic abnormalities 69% of tumors, 37% were H19 epimutations 32% paternal uniparental disomy (pUPD). mutations WTX 32%, CTNNB1 15%, WT1 12% 5% several significant associations: between (P=0.007), (P less than 0.001), pUPD (P=0.01), a strong negative association epimutation...
Overgrowth syndromes comprise a group of heterogeneous disorders characterised by excessive growth parameters, often in association with intellectual disability.To identify new causes human overgrowth, we have been undertaking trio-based exome sequencing studies overgrowth patients and their unaffected parents.Prioritisation functionally relevant genes multiple unique de novo mutations revealed four protein phosphatase 2A (PP2A) regulatory subunit B family 2, Subunit B', beta (PPP2R5B);...
Abstract While most testicular germ cell tumours (TGCTs) exhibit exquisite sensitivity to platinum chemotherapy, ~10% are resistant. To gain insight into the underlying mechanisms, we undertake whole exome sequencing and copy number analysis in 40 from 26 cases with platinum-resistant TGCT, combine this published genomic data on an additional 624 TGCTs. We integrate analyses for driver mutations, mutational burden, global, arm-level focal (CN) events, SNV CN signatures. Albeit preliminary...
Abstract Testicular germ cell tumors (TGCT) are the most common tumor in young white men and have a high heritability. In this study, international Cancer Consortium assemble 10,156 179,683 with without TGCT, respectively, for genome-wide association study. This meta-analysis identifies 22 TGCT susceptibility loci, bringing total to 78, which account 44% of disease Men polygenic risk score (PRS) 95 th percentile 6.8-fold increased compared median scores. Among independent factors such as...
Abstract CHD8 has been reported as an autism susceptibility/intellectual disability gene but emerging evidence suggests that it additionally causes overgrowth phenotype. This study reports 27 unrelated patients with pathogenic or likely variants (25 null variants, two missense variants) and a male:female ratio of 21:6 (3.5:1, p < .01). All presented intellectual disability, 85% in the mild moderate range, had height and/or head circumference ≥2 standard deviations above mean, meeting our...
ABSTRACT Background Cancer diagnostics and surgery have been disrupted by the response of healthcare services to COVID-19 pandemic. Progression cancers during delay will impact on patient long-term survival. Methods We generated per-day hazard ratios cancer progression from observational studies applied these age-specific, stage-specific survival for England 2013-2017. modelled per-patient three months six periods disruption one year two years. Using resource costing, we contextualise...