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Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer.
(NATURE PUBLISHING GROUP, 2014-09-11)
We conducted imputation to the 1000 Genomes Project of four genome-wide association studies of lung cancer in populations of European ancestry (11,348 cases and 15,861 controls) and genotyped an additional 10,246 cases and ...
Systematic evaluation of the prognostic impact and intratumour heterogeneity of clear cell renal cell carcinoma biomarkers.
(ELSEVIER, 2014-07-19)
BACKGROUND: Candidate biomarkers have been identified for clear cell renal cell carcinoma (ccRCC) patients, but most have not been validated. OBJECTIVE: To validate published ccRCC prognostic biomarkers in an independent ...
The genomic landscape of testicular germ cell tumours: from susceptibility to treatment.
(NATURE PUBLISHING GROUP, 2016-07-01)
The genomic landscape of testicular germ cell tumour (TGCT) can be summarized using four overarching hypotheses. Firstly, TGCT risk is dominated by inherited genetic factors, which determine nearly half of all disease risk ...
Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.
(NATURE PUBLISHING GROUP, 2016-04-01)
We analyzed 3,872 common genetic variants across the ESR1 locus (encoding estrogen receptor α) in 118,816 subjects from three international consortia. We found evidence for at least five independent causal variants, each ...
Identification of multiple risk loci and regulatory mechanisms influencing susceptibility to multiple myeloma.
(2018-09-13)
Genome-wide association studies (GWAS) have transformed our understanding of susceptibility to multiple myeloma (MM), but much of the heritability remains unexplained. We report a new GWAS, a meta-analysis with previous ...
Meta-analysis of five genome-wide association studies identifies multiple new loci associated with testicular germ cell tumor.
(NATURE PORTFOLIO, 2017-07-01)
The international Testicular Cancer Consortium (TECAC) combined five published genome-wide association studies of testicular germ cell tumor (TGCT; 3,558 cases and 13,970 controls) to identify new susceptibility loci. We ...
Regions of homozygosity as risk factors for multiple myeloma.
(WILEY, 2019-07-01)
Genomic regions of homozygosity (ROH), detectable in outbred populations, have been implicated as determinants of inherited risk. To examine whether ROH is associated with risk of multiple myeloma (MM), we performed ...
Transcriptome-wide association study of multiple myeloma identifies candidate susceptibility genes.
(BMC, 2019-08-20)
BACKGROUND: While genome-wide association studies (GWAS) of multiple myeloma (MM) have identified variants at 23 regions influencing risk, the genes underlying these associations are largely unknown. To identify candidate ...
Genetic correlation between multiple myeloma and chronic lymphocytic leukaemia provides evidence for shared aetiology.
(NATURE PUBLISHING GROUP, 2018-12-21)
The clustering of different types of B-cell malignancies in families raises the possibility of shared aetiology. To examine this, we performed cross-trait linkage disequilibrium (LD)-score regression of multiple myeloma ...
Capture Hi-C identifies putative target genes at 33 breast cancer risk loci.
(NATURE PUBLISHING GROUP, 2018-03-12)
Genome-wide association studies (GWAS) have identified approximately 100 breast cancer risk loci. Translating these findings into a greater understanding of the mechanisms that influence disease risk requires identification ...