Deborah J. Thompson
- BRCA gene mutations in cancer
- Genetic Associations and Epidemiology
- Cancer-related molecular mechanisms research
- Genetic factors in colorectal cancer
- Digital Radiography and Breast Imaging
- Nutrition, Genetics, and Disease
- AI in cancer detection
- Endometrial and Cervical Cancer Treatments
- Global Cancer Incidence and Screening
- Ovarian cancer diagnosis and treatment
- Cancer Risks and Factors
- Bioinformatics and Genomic Networks
- RNA Research and Splicing
- Epigenetics and DNA Methylation
- Colorectal Cancer Screening and Detection
- Genomic variations and chromosomal abnormalities
- Cancer Genomics and Diagnostics
- Estrogen and related hormone effects
- Reproductive System and Pregnancy
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Cardiovascular Disease and Adiposity
- Breast Cancer Treatment Studies
- DNA Repair Mechanisms
- Health, Environment, Cognitive Aging
- Gene expression and cancer classification
University College London
2012-2025
Imperial College Healthcare NHS Trust
2025
University of Cambridge
2015-2024
Genomics (United Kingdom)
2022-2024
Acumen (United States)
2022
Wake Forest University
2022
Cancer Research UK Cambridge Center
2014-2021
MRC Epidemiology Unit
2003-2020
UC Irvine Health
2019
University of California, Irvine
2011-2019
Homozygous or compound heterozygous mutations in the ATM gene are principal cause of ataxia telangiectasia (A-T). Several studies have suggested that carriers at increased risk breast cancer and perhaps other cancers, but precise is uncertain.Cancer incidence mortality information for 1160 relatives 169 UK A-T patients (including 247 obligate carriers) was obtained through National Health Service Central Registry. Relative risks (RRs) carriers, allowing genotype uncertainty, were estimated...
The causal direction and magnitude of the association between telomere length incidence cancer non-neoplastic diseases is uncertain owing to susceptibility observational studies confounding reverse causation.
Abstract Mendelian randomization is the use of genetic variants as instrumental variables to estimate causal effects risk factors on outcomes. The total effect a factor change in outcome resulting from intervening factor. This may potentially encompass multiple mediating mechanisms. For proposed mediator, direct factor, keeping mediator constant. A difference between and indicates that pathway acts at least part via (an indirect effect). Here, we show estimates can be obtained using...
Abstract Breast, ovarian, and prostate cancers are hormone-related may have a shared genetic basis, but this has not been investigated systematically by genome-wide association (GWA) studies. Meta-analyses combining the largest GWA meta-analysis data sets for these totaling 112,349 cases 116,421 controls of European ancestry, all together in pairs, identified at P < 10−8 seven new cross-cancer loci: three associated with susceptibility to (rs17041869/2q13/BCL2L11;...
Abstract We present and assess the UK Biobank (UKB) Polygenic Risk Score (PRS) Release, a set of PRSs for 28 diseases 25 quantitative traits being made available on individuals in UKB. also release benchmarking software tool to enable like-for-like performance evaluation different same disease or trait. Extensive shows UKB Release outperform broad 81 published PRSs. For many we validate PRS algorithms other cohorts. The availability 53 allows systematic assessment their properties, increased...
We assess the UK Biobank (UKB) Polygenic Risk Score (PRS) Release, a set of PRSs for 28 diseases and 25 quantitative traits that has been made available on individuals in UKB, using unified pipeline PRS evaluation. also release benchmarking software tool to enable like-for-like performance evaluation different same disease or trait. Extensive shows UKB Release outperform broad 76 published PRSs. For many we validate algorithms separate cohort (100,000 Genomes Project). The availability 53...
Neurofibromatosis type 1 (NF1) is an autosomal dominant condition affecting around one in 3000 live births. The manifestations of this are extremely variable, even within families, and genetic counselling consequently difficult with regard to prognosis. Individuals NF1 acknowledged be at increased risk malignancy. Several studies have previously attempted quantify risk, but involved relatively small study populations. We present prospective data from 448 individuals a total 5705 years...