Peter Devilee
- BRCA gene mutations in cancer
- Genetic Associations and Epidemiology
- Cancer Genomics and Diagnostics
- Genetic factors in colorectal cancer
- Genomic variations and chromosomal abnormalities
- Nutrition, Genetics, and Disease
- DNA Repair Mechanisms
- Adrenal and Paraganglionic Tumors
- Genomics and Chromatin Dynamics
- CRISPR and Genetic Engineering
- Ovarian cancer diagnosis and treatment
- Cancer-related Molecular Pathways
- Cancer, Hypoxia, and Metabolism
- Gene expression and cancer classification
- Molecular Biology Techniques and Applications
- Bioinformatics and Genomic Networks
- Breast Cancer Treatment Studies
- RNA modifications and cancer
- Epigenetics and DNA Methylation
- Hormonal Regulation and Hypertension
- Genomics and Rare Diseases
- Cancer Risks and Factors
- Global Cancer Incidence and Screening
- RNA Research and Splicing
- Estrogen and related hormone effects
Leiden University Medical Center
2015-2024
Comprehensive Cancer Center Erlangen
2010-2023
Universitätsklinikum Erlangen
2010-2023
Leiden University
2013-2022
Institut de Génétique Humaine
2021-2022
Cancer Research Center
2010-2021
University of Manchester
2021
St Mary's Hospital
2021
Edinburgh Cancer Research
2021
The Netherlands Cancer Institute
1998-2017
SummaryThe contribution of BRCA1 and BRCA2 to inherited breast cancer was assessed by linkage mutation analysis in 237 families, each with at least four cases cancer, collected the Breast Cancer Linkage Consortium. Families were included without regard occurrence ovarian or other cancers. Overall, disease linked an estimated 52% 32% neither gene 16% (95% confidence interval [CI] 6%–28%), suggesting predisposition genes. The majority (81%) breast-ovarian families due BRCA1, most others (14%)...
A small proportion of breast cancer, in particular those cases arising at a young age, is due to the inheritance dominant susceptibility genes conferring high risk disease. genomic linkage search was performed with 15 high-risk cancer families that were unlinked BRCA1 locus on chromosome 17q21. This analysis localized second locus, BRCA2 , 6-centimorgan interval 13q12-13. Preliminary evidence suggests confers but, unlike does not confer substantially elevated ovarian cancer.
Hereditary paraganglioma (PGL) is characterized by the development of benign, vascularized tumors in head and neck. The most common tumor site carotid body (CB), a chemoreceptive organ that senses oxygen levels blood. Analysis families carrying PGL1 gene, described here, revealed germ line mutations SDHD gene on chromosome 11q23. encodes mitochondrial respiratory chain protein—the small subunit cytochrome b succinate-ubiquinone oxidoreductase (cybS). In contrast to expectations based...
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...
An international group of cancer geneticists review the level evidence for association gene variants with risk breast cancer. It is difficult to draw firm conclusions from data because ascertainment bias and lack large populations.
Mammalian mitochondria contain about 1100 proteins, nearly 300 of which are uncharacterized. Given the well-established role mitochondrial defects in human disease, functional characterization these proteins may shed new light on disease mechanisms. Starting with yeast as a model system, we investigated an uncharacterized but highly conserved protein (named here Sdh5). Both and Sdh5 interact catalytic subunit succinate dehydrogenase (SDH) complex, component both electron transport chain...
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...
To investigate the proportion of breast cancers arising in patients with germ line BRCA1 and BRCA2 mutations expressing basal markers developing predictive tests for identification high-risk patients.Histopathologic material from 182 tumors mutation carriers, 63 109 controls, collected as part international Breast Cancer Linkage Consortium were immunohistochemically stained CK14, CK5/6, CK17, epidermal growth factor receptor (EGFR), osteonectin.All five commoner than control (CK14: 61%...
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...