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Assessment of polygenic architecture and risk prediction based on common variants across fourteen cancers.
(NATURE PORTFOLIO, 2020-07-03)
Genome-wide association studies (GWAS) have led to the identification of hundreds of susceptibility loci across cancers, but the impact of further studies remains uncertain. Here we analyse summary-level data from GWAS of ...
Analysis of rare disruptive germline mutations in 2135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes.
(ELSEVIER, 2022-12-01)
BACKGROUND: Breast cancer has a significant heritable basis, of which ∼60% remains unexplained. Testing for BRCA1/BRCA2 offers useful discrimination of breast cancer risk within families, and identification of additional ...
Genome-wide association study of classical Hodgkin lymphoma identifies key regulators of disease susceptibility.
(NATURE PUBLISHING GROUP, 2017-12-01)
Several susceptibility loci for classical Hodgkin lymphoma have been reported. However, much of the heritable risk is unknown. Here, we perform a meta-analysis of two existing genome-wide association studies, a new genome-wide ...
Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition.
(NATURE PUBLISHING GROUP, 2018-03-20)
This corrects the article DOI: 10.1038/bjc.2017.429.
Identification of 19 new risk loci and potential regulatory mechanisms influencing susceptibility to testicular germ cell tumor.
(NATURE PUBLISHING GROUP, 2017-07-01)
Genome-wide association studies (GWAS) have transformed understanding of susceptibility to testicular germ cell tumors (TGCTs), but much of the heritability remains unexplained. Here we report a new GWAS, a meta-analysis ...
Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes.
(CELL PRESS, 2019-01-03)
Stratification of women according to their risk of breast cancer based on polygenic risk scores (PRSs) could improve screening and prevention strategies. Our aim was to develop PRSs, optimized for prediction of estrogen ...
Genetic modifiers of CHEK2*1100delC-associated breast cancer risk.
(NATURE PUBLISHING GROUP, 2017-05-01)
PURPOSE: CHEK2*1100delC is a founder variant in European populations that confers a two- to threefold increased risk of breast cancer (BC). Epidemiologic and family studies have suggested that the risk associated with ...
An integrative multi-omics analysis to identify candidate DNA methylation biomarkers related to prostate cancer risk.
(NATURE PUBLISHING GROUP, 2020-08-06)
It remains elusive whether some of the associations identified in genome-wide association studies of prostate cancer (PrCa) may be due to regulatory effects of genetic variants on CpG sites, which may further influence ...
Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: a case-control study.
(BMC, 2014-05-26)
INTRODUCTION: We have previously shown that a tag single nucleotide polymorphism (rs10235235), which maps to the CYP3A locus (7q22.1), was associated with a reduction in premenopausal urinary estrone glucuronide levels and ...
Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
(NATURE PUBLISHING GROUP, 2013-04-01)
Breast cancer is the most common cancer among women. Common variants at 27 loci have been identified as associated with susceptibility to breast cancer, and these account for ∼9% of the familial risk of the disease. We ...