Claire Palles
A5004647151- Genetic factors in colorectal cancer
- Cancer Genomics and Diagnostics
- Colorectal Cancer Treatments and Studies
- Genetic Associations and Epidemiology
- Esophageal Cancer Research and Treatment
- Epigenetics and DNA Methylation
- DNA Repair Mechanisms
- Cancer Immunotherapy and Biomarkers
- Reproductive System and Pregnancy
- Endometrial and Cervical Cancer Treatments
- BRCA gene mutations in cancer
- Cancer-related molecular mechanisms research
- RNA modifications and cancer
- Helicobacter pylori-related gastroenterology studies
- Colorectal Cancer Screening and Detection
- Genomics and Rare Diseases
- Cancer Treatment and Pharmacology
- Cancer, Lipids, and Metabolism
- COVID-19 and healthcare impacts
- Immunotherapy and Immune Responses
- Eosinophilic Esophagitis
- RNA Research and Splicing
- Nutrition, Genetics, and Disease
- Cancer-related gene regulation
- Molecular Biology Techniques and Applications
University of Birmingham
2018-2025
Birmingham City University
2025
William Harvey Research Institute
2021
National Institute for Health Research
2021
Centre for Human Genetics
2011-2020
University of Oxford
2011-2020
Institute of Cancer Research
2006-2014
University of Edinburgh
2010-2014
Cancer Research UK
2006-2014
Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas
2013-2014
Accurate duplication of DNA prior to cell division is essential suppress mutagenesis and tumour development. The high fidelity eukaryotic replication due a combination accurate incorporation nucleotides into the nascent strand by polymerases, recognition removal mispaired (proofreading) exonuclease activity polymerases δ ɛ, post-replication surveillance repair newly synthesized mismatch (MMR) apparatus. While contribution defective MMR neoplasia well recognized, evidence that faulty...
Abstract Purpose: Recent studies have shown that 7% to 12% of endometrial cancers are ultramutated due somatic mutation in the proofreading exonuclease domain DNA replicase POLE. Interestingly, these tumors an excellent prognosis. In view emerging data linking burden, immune response, and clinical outcome cancer, we investigated whether POLE-mutant showed evidence increased immunogenicity. Experimental Design: We examined infiltration activation according tumor POLE a molecularly defined...
Endometrial cancer is the most commonly diagnosed of female reproductive tract in developed countries. Through genome-wide association studies (GWAS), we have previously identified eight risk loci for endometrial cancer. Here, present an expanded meta-analysis 12,906 cases and 108,979 controls (including new genotype data 5624 cases) identify nine novel significant loci, including a locus on 12q24.12 by meta-GWAS colorectal At five expression quantitative trait (eQTL) analyses candidate...
Genome-wide association studies have identified several common genetic variants associated with breast cancer risk. It is likely, however, that a substantial proportion of such loci not yet been discovered. We compared 296 114 tagging single-nucleotide polymorphisms in 1694 case subjects (92% two primary cancers or at least affected first-degree relatives) and 2365 control subjects, validation three independent series totaling 11 880 12 487 subjects. Odds ratios (ORs) 95% confidence...
Abstract Colorectal cancer (CRC) is a leading cause of cancer-related death worldwide, and has strong heritable basis. We report genome-wide association analysis 34,627 CRC cases 71,379 controls European ancestry that identifies SNPs at 31 new risk loci. also identify eight independent the previously reported loci, further nine loci only identified in Asian populations. use situ promoter capture Hi-C (CHi-C), gene expression, silico annotation methods to likely target genes SNPs. Whilst...
Objective Gastro-oesophageal reflux disease (GERD) has heterogeneous aetiology primarily attributable to its symptom-based definitions. GERD genome-wide association studies (GWASs) have shown strong genetic overlaps with established risk factors such as obesity and depression. We hypothesised that the shared architecture between these can be leveraged (1) identify new Barrett’s oesophagus (BE) loci (2) explore potentially pathways leading oesophageal complications. Design applied multitrait...
Abstract Mutation accumulation in somatic cells contributes to cancer development and is proposed as a cause of aging. DNA polymerases Pol ε δ replicate during cell division. However, some cancers, defective proofreading due acquired POLE / POLD1 exonuclease domain mutations causes markedly elevated mutation burdens with distinctive mutational signatures. Germline familial predisposition. Here, we sequenced normal tissue tumor from individuals germline mutations. Increased characteristic...
Deep learning (DL) can accelerate the prediction of prognostic biomarkers from routine pathology slides in colorectal cancer (CRC). However, current approaches rely on convolutional neural networks (CNNs) and have mostly been validated small patient cohorts. Here, we develop a new transformer-based pipeline for end-to-end biomarker by combining pre-trained transformer encoder with network patch aggregation. Our approach substantially improves performance, generalizability, data efficiency,...
Genome-wide association studies (GWAS) have identified 14 tagging single nucleotide polymorphisms (tagSNPs) that are associated with the risk of colorectal cancer (CRC), and several these tagSNPs near bone morphogenetic protein (BMP) pathway loci. The penalty multiple testing implicit in GWAS increases attraction complementary approaches for disease gene discovery, including candidate gene- or pathway-based analyses. strongest loci additional predisposition SNPs arguably those already known...
Abstract Colorectal cancer (CRC) displays a complex pattern of inheritance. It is postulated that much the missing heritability CRC enshrined in high-impact rare alleles, which are mechanistically and clinically important. In this study, we assay impact germline mutations on CRC, analysing high-coverage exome sequencing data 1,006 early-onset familial cases 1,609 healthy controls, with additional array up to 5,552 6,792 controls. We identify highly penetrant 16% CRC. Although majority these...
Epidemiological studies have linked lifestyle, cardiometabolic, reproductive, developmental, and inflammatory factors to the risk of colorectal cancer. However, which specific affect strength these effects are unknown. We aimed examine relationship between potentially modifiable