Clare Turnbull
A5023433214- BRCA gene mutations in cancer
- Cancer Genomics and Diagnostics
- Genomics and Rare Diseases
- Genetic factors in colorectal cancer
- Genetic Associations and Epidemiology
- Testicular diseases and treatments
- Nutrition, Genetics, and Disease
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- DNA Repair Mechanisms
- Genomic variations and chromosomal abnormalities
- Epigenetics and DNA Methylation
- Sexual Differentiation and Disorders
- Estrogen and related hormone effects
- Bioinformatics and Genomic Networks
- COVID-19 and healthcare impacts
- CRISPR and Genetic Engineering
- HER2/EGFR in Cancer Research
- Global Cancer Incidence and Screening
- Colorectal Cancer Screening and Detection
- Cancer-related Molecular Pathways
- Sperm and Testicular Function
- Multiple and Secondary Primary Cancers
- Cancer Risks and Factors
- Cytokine Signaling Pathways and Interactions
- Genomics and Chromatin Dynamics
Institute of Cancer Research
2016-2025
National Cancer Registration Service
2017-2024
National Health Service
2014-2024
Institute of Cancer Research
2014-2024
NHS England
2023-2024
Royal Marsden NHS Foundation Trust
2005-2024
Royal Marsden Hospital
2011-2024
Genomics England
2015-2024
Institute for Research in Schools
2024
Cancer Genetics (United States)
2008-2023
Genetic variations, such as single nucleotide polymorphisms (SNPs) in microRNAs (miRNA) or the miRNA binding sites may affect dependent gene expression regulation, which has been implicated various cancers, including breast cancer, and alter individual susceptibility to cancer. We investigated associations between related SNPs cancer risk. First we evaluated 2,196 a case-control study combining nine genome wide association studies (GWAS). Second, further 42 with suggestive evidence for using...
Data for multiple common susceptibility alleles breast cancer may be combined to identify women at different levels of risk. Such stratification could guide preventive and screening strategies. However, empirical evidence genetic risk is lacking. We investigated the value using 77 cancer-associated single nucleotide polymorphisms (SNPs) stratification, in a study 33 673 cases 381 control European origin. tested all possible pair-wise multiplicative interactions constructed 77-SNP polygenic...
•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...
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.
In partnership with NHS England, Genomics England's ambitious plans to embed genomic medicine into routine patient care are well underway. <b>Clare Turnbull and colleagues</b> discuss its progress
Background Constitutional DICER1 mutations were recently reported to cause familial pleuropulmonary blastoma (PPB). Aim To investigate the contribution and phenotypic spectrum of constitutional somatic cancer. Methods results The authors sequenced in DNA from 823 unrelated patients with a variety tumours 781 cancer cell lines. identified 19 families including 11/14 PPB, 2/3 cystic nephroma, 4/7 ovarian Sertoli–Leydig-type tumours, 1/243 Wilms tumour (this patient also had Sertoli–Leydig...
Objectives To estimate the impact of COVID-19 pandemic on cancer care services and overall (direct indirect) excess deaths in people with cancer. Methods We employed near real-time weekly data to determine adverse effect services. also used these data, together national death registrations until June 2020 model deaths, background (pre-COVID-19) mortality, Background mortality risks for 24 cancers without COVID-19-relevant comorbidities were obtained from population-based primary cohort...
The U.K. 100,000 Genomes Project is in the process of investigating role genome sequencing patients with undiagnosed rare diseases after usual care and alignment this research health implementation National Health Service. Other parts project focus on cancer infection.
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...
Background: Cancer and multiple non-cancer conditions are considered by the Centers for Disease Control Prevention (CDC) as high risk in COVID-19 emergency. Professional societies have recommended changes cancer service provision to minimize risks patients health care workers. However, we do not know extent which patients, whom multi-morbidity is common, may be at higher overall of mortality a net result factors including infection, services, socioeconomic factors. Methods: We report...