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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 ...
Genetic and functional diversity of propagating cells in glioblastoma.
(CELL PRESS, 2015-01-13)
Glioblastoma (GBM) is a lethal malignancy whose clinical intransigence has been linked to extensive intraclonal genetic and phenotypic diversity and the common emergence of therapeutic resistance. This interpretation ...
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 ...
The subclonal complexity of STIL-TAL1+ T-cell acute lymphoblastic leukaemia.
(NATURE PUBLISHING GROUP, 2018-09-01)
Single-cell genetics were used to interrogate clonal complexity and the sequence of mutational events in STIL-TAL1+ T-ALL. Single-cell multicolour FISH was used to demonstrate that the earliest detectable leukaemia subclone ...
A genome-wide association study identifies risk loci for childhood acute lymphoblastic leukemia at 10q26.13 and 12q23.1.
(NATURE PUBLISHING GROUP, 2017-03-01)
Genome-wide association studies (GWASs) have shown that common genetic variation contributes to the heritable risk of childhood acute lymphoblastic leukemia (ALL). To identify new susceptibility loci for the largest subtype ...