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Article
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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Article
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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Article
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 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 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 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...
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Article
Open AccessAn enhanced genetic model of relapsed IGH-translocated multiple myeloma evolutionary dynamics
Most patients with multiple myeloma (MM) die from progressive disease after relapse. To advance our understanding of MM evolution mechanisms, we performed whole-genome sequencing of 80 IGH-translocated tumour-nor...
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Open AccessImpact of mitochondrial DNA mutations in multiple myeloma
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Open AccessTranscriptome-wide association study of multiple myeloma identifies candidate susceptibility genes
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...
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Article
Open AccessMutational processes contributing to the development of multiple myeloma
To gain insight into multiple myeloma (MM) tumorigenesis, we analyzed the mutational signatures in 874 whole-exome and 850 whole-genome data from the CoMMpass Study. We identified that coding and non-coding re...
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Open AccessTypes of second primary cancers influence survival in chronic lymphocytic and hairy cell leukemia patients
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Publisher Correction: Cancer genetics, precision prevention and a call to action
In the version of this article originally published, there was an error in the second-to-last sentence of the abstract. In this sentence, the final phrase “to identify carriers of first-wave gene mutation carr...
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Open AccessGenetic correlation between multiple myeloma and chronic lymphocytic leukaemia provides evidence for shared aetiology
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 multip...
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Article
Promoter capture Hi-C-based identification of recurrent noncoding mutations in colorectal cancer
Efforts are being directed to systematically analyze the non-coding regions of the genome for cancer-driving mutations1–6. cis-regulatory elements (CREs) represent a highly enriched subset of the non-coding regio...
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Article
Cancer genetics, precision prevention and a call to action
More than 15 years have passed since the identification, through linkage, of ‘first-wave’ susceptibility genes for common cancers (BRCA1, BRCA2, MLH1 and MSH2). These genes have strong frequency-penetrance profil...
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Open AccessInfluence of obesity-related risk factors in the aetiology of glioma
Obesity and related factors have been implicated as possible aetiological factors for the development of glioma in epidemiological observation studies. We used genetic markers in a Mendelian randomisation fram...