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Large-scale cross-cancer fine-mapping of the 5p15.33 region reveals multiple independent signals.
(ELSEVIER, 2021-07-08)
Genome-wide association studies (GWASs) have identified thousands of cancer risk loci revealing many risk regions shared across multiple cancers. Characterizing the cross-cancer shared genetic basis can increase our ...
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 ...
Searching for causal relationships of glioma: a phenome-wide Mendelian randomisation study.
(SPRINGERNATURE, 2021-01-19)
BACKGROUND: The aetiology of glioma is poorly understood. Summary data from genome-wide association studies (GWAS) can be used in a Mendelian randomisation (MR) phenome-wide association study (PheWAS) to search for glioma ...
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 ...
Cancer drivers and clonal dynamics in acute lymphoblastic leukaemia subtypes
(2021-04-15)
To obtain a comprehensive picture of composite genetic drivers events and clonal dynamics in subtypes of paediatric acute lymphoblastic leukaemia (ALL) we analysed tumour-normal whole genome sequencing and expression data ...