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140 Result(s)
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Article
Open AccessGenetic landscape of interval and screen detected breast cancer
Interval breast cancers (IBCs) are cancers diagnosed between screening episodes. Understanding the biological differences between IBCs and screen-detected breast-cancers (SDBCs) has the potential to improve ma...
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Open AccessFine-map** analysis including over 254,000 East Asian and European descendants identifies 136 putative colorectal cancer susceptibility genes
Genome-wide association studies (GWAS) have identified more than 200 common genetic variants independently associated with colorectal cancer (CRC) risk, but the causal variants and target genes are mostly unkn...
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Open AccessCombining Asian and European genome-wide association studies of colorectal cancer improves risk prediction across racial and ethnic populations
Polygenic risk scores (PRS) have great potential to guide precision colorectal cancer (CRC) prevention by identifying those at higher risk to undertake targeted screening. However, current PRS using European a...
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Open AccessDissecting the pathogenic effects of smoking and its hallmarks in blood DNA methylation on colorectal cancer risk
Tobacco smoking is suggested as a risk factor for colorectal cancer (CRC), but the complex relationship and the potential pathway are not fully understood.
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Open AccessA genome-wide gene-environment interaction study of breast cancer risk for women of European ancestry
Genome-wide studies of gene–environment interactions (G×E) may identify variants associated with disease risk in conjunction with lifestyle/environmental exposures. We conducted a genome-wide G×E analysis of ~...
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Open AccessAggregation tests identify new gene associations with breast cancer in populations with diverse ancestry
Low-frequency variants play an important role in breast cancer (BC) susceptibility. Gene-based methods can increase power by combining multiple variants in the same gene and help identify target genes.
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Open AccessChemotherapy-related hyperbilirubinemia in pediatric acute lymphoblastic leukemia: a genome-wide association study from the AIEOP-BFM ALL study group
Characterization of clinical phenotypes in context with tumor and host genomic information can aid in the development of more effective and less toxic risk-adapted and targeted treatment strategies. To analyze...
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Open AccessGenetic risk scores may compound rather than solve the issue of prostate cancer overdiagnosis
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Open AccessWhole-genome sequencing of chronic lymphocytic leukemia identifies subgroups with distinct biological and clinical features
The value of genome-wide over targeted driver analyses for predicting clinical outcomes of cancer patients is debated. Here, we report the whole-genome sequencing of 485 chronic lymphocytic leukemia patients e...
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Open AccessExploiting gene dependency to inform drug development for multiple myeloma
Despite recent advances in therapy, multiple myeloma essentially remains an incurable malignancy. Targeting tumour-specific essential genes, which constitute a druggable dependency, potentially offers a strate...
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Open AccessDeciphering associations between three RNA splicing-related genetic variants and lung cancer risk
Limited efforts have been made in assessing the effect of genome-wide profiling of RNA splicing-related variation on lung cancer risk. In the present study, we first identified RNA splicing-related genetic var...
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Open AccessPhenome-wide association study (PheWAS) of colorectal cancer risk SNP effects on health outcomes in UK Biobank
Associations between colorectal cancer (CRC) and other health outcomes have been reported, but these may be subject to biases, or due to limitations of observational studies.
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Open AccessAuthor Correction: Genome-wide association study identifies susceptibility loci for acute myeloid leukemia
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Open AccessThe clinical utility of polygenic risk scores for chronic lymphocytic leukemia
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Open AccessGenome-wide association study identifies susceptibility loci for acute myeloid leukemia
Acute myeloid leukemia (AML) is a hematological malignancy with an undefined heritable risk. Here we perform a meta-analysis of three genome-wide association studies, with replication in a fourth study, incorp...
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Open AccessCopy number evolution and its relationship with patient outcome—an analysis of 178 matched presentation-relapse tumor pairs from the Myeloma XI trial
Structural chromosomal changes including copy number aberrations (CNAs) are a major feature of multiple myeloma (MM), however their evolution in context of modern biological therapy is not well characterized. ...
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Open AccessLack of an association between gallstone disease and bilirubin levels with risk of colorectal cancer: a Mendelian randomisation analysis
Epidemiological studies of the relationship between gallstone disease and circulating levels of bilirubin with risk of develo** colorectal cancer (CRC) have been inconsistent. To address possible confounding...
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Open AccessGenetically predicted physical activity levels are associated with lower colorectal cancer risk: a Mendelian randomisation study
We conducted a Mendelian randomisation (MR) study to investigate whether physical activity (PA) causes a reduction of colorectal cancer risk and to understand the contributions of effects mediated through chan...
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Open AccessGenome-wide association study identifies risk loci for progressive chronic lymphocytic leukemia
Prognostication in patients with chronic lymphocytic leukemia (CLL) is challenging due to heterogeneity in clinical course. We hypothesize that constitutional genetic variation affects disease progression and ...
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Open AccessSearching for causal relationships of glioma: a phenome-wide Mendelian randomisation study
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...