Isabel dos‐Santos‐Silva
- Global Cancer Incidence and Screening
- BRCA gene mutations in cancer
- Cancer Risks and Factors
- Digital Radiography and Breast Imaging
- Genetic Associations and Epidemiology
- AI in cancer detection
- Cancer Immunotherapy and Biomarkers
- Estrogen and related hormone effects
- Immunotherapy and Immune Responses
- Breast Cancer Treatment Studies
- Nutrition, Genetics, and Disease
- Cancer Genomics and Diagnostics
- Colorectal Cancer Screening and Detection
- Birth, Development, and Health
- Genomics and Chromatin Dynamics
- Bioinformatics and Genomic Networks
- Health, Environment, Cognitive Aging
- Cervical Cancer and HPV Research
- Ferroptosis and cancer prognosis
- Nutritional Studies and Diet
- Genetic factors in colorectal cancer
- HER2/EGFR in Cancer Research
- Genomic variations and chromosomal abnormalities
- Gene expression and cancer classification
- Economic and Financial Impacts of Cancer
London School of Hygiene & Tropical Medicine
2016-2025
Cairo University
2024
University of London
2008-2020
Peking University
2020
Peking University Cancer Hospital
2020
Universidad de Londres
2018
University Hospital Heidelberg
2012-2015
University Medical Center Hamburg-Eppendorf
2012-2015
Cancer Research Center
2012-2015
Institute of Cancer Research
2004-2015
BMI is known to be strongly associated with all-cause mortality, but few studies have been large enough reliably examine associations between and a comprehensive range of cause-specific mortality outcomes.
Stratification of women according to their risk breast cancer based on polygenic scores (PRSs) could improve screening and prevention strategies. Our aim was develop PRSs, optimized for prediction estrogen receptor (ER)-specific disease, from the largest available genome-wide association dataset empirically validate PRSs in prospective studies. The development comprised 94,075 case subjects 75,017 control European ancestry 69 studies, divided into training validation sets. Samples were...
Common variation on 14q24.1, close to RAD51B, has been associated with breast cancer: rs999737 and rs2588809 the risk of female cancer rs1314913 male cancer. The aim this study was investigate role RAD51B variants in predisposition, particularly context familial Finland. We sequenced coding region 168 Finnish patients from Helsinki for identification possible recurrent founder mutations. In addition, we studied known rs999737, rs2588809, SNPs haplotypes 44,791 cases 43,583 controls 40...
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...
The past few decades have seen substantial improvements in cancer survival, but concerns exist about long-term cardiovascular disease risk survivors. Evidence is scarce on the risks of specific diseases survivors a wide range cancers to inform prevention and management. In this study, we used large-scale electronic health records data from multiple linked UK databases address these evidence gaps.
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...
The rarity of mutations in PALB2, CHEK2 and ATM make it difficult to estimate precisely associated cancer risks. Population-based family studies have provided evidence that at least some these are with breast risk as high those rare BRCA2 mutations. We aimed the relative risks specific variants via a multicentre case-control study.