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Multiple myeloma risk variant at 7p15.3 creates an IRF4-binding site and interferes with CDCA7L expression.
(NATURE PUBLISHING GROUP, 2016-11-24)
Genome-wide association studies have identified several risk loci for multiple myeloma (MM); however, the mechanisms by which they influence MM are unknown. Here by using genetic association data and functional characterization, ...
Constitutional mutation in CDKN2A is associated with long term survivorship in multiple myeloma: a case report.
(BMC, 2017-11-06)
BACKGROUND: Multiple Myeloma is a cancer of plasma cells associated with significantly reduced survival. Long term survivorship from myeloma is very rare and despite advances in its treatment the disease is generally ...
Promoter capture Hi-C-based identification of recurrent noncoding mutations in colorectal cancer.
(NATURE PUBLISHING GROUP, 2018-10-01)
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 regions of the ...
Genetic Predisposition to Multiple Myeloma at 5q15 Is Mediated by an ELL2 Enhancer Polymorphism.
(CELL PRESS, 2017-09-12)
Multiple myeloma (MM) is a malignancy of plasma cells. Genome-wide association studies have shown that variation at 5q15 influences MM risk. Here, we have sought to decipher the causal variant at 5q15 and the mechanism by ...
Pro-inflammatory fatty acid profile and colorectal cancer risk: A Mendelian randomisation analysis.
(ELSEVIER SCI LTD, 2017-10-01)
BACKGROUND: While dietary fat has been established as a risk factor for colorectal cancer (CRC), associations between fatty acids (FAs) and CRC have been inconsistent. Using Mendelian randomisation (MR), we sought to ...
Capture Hi-C identifies the chromatin interactome of colorectal cancer risk loci.
(NATURE PORTFOLIO, 2015-02-19)
Multiple regulatory elements distant from their targets on the linear genome can influence the expression of a single gene through chromatin looping. Chromosome conformation capture implemented in Hi-C allows for genome-wide ...
Assessing the effect of obesity-related traits on multiple myeloma using a Mendelian randomisation approach.
(NATURE PUBLISHING GROUP, 2017-06-16)
Mendelian randomisation analysis provides no evidence for a relationship between adult height and testicular cancer risk.
(WILEY, 2017-09-01)
Observational studies have suggested anthropometric traits, particularly increased height are associated with an elevated risk of testicular cancer (testicular germ cell tumour). However, there is an inconsistency between ...
Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia.
(NATURE PUBLISHING GROUP, 2017-02-06)
Several chronic lymphocytic leukaemia (CLL) susceptibility loci have been reported; however, much of the heritable risk remains unidentified. Here we perform a meta-analysis of six genome-wide association studies, imputed ...
Search for rare protein altering variants influencing susceptibility to multiple myeloma.
(IMPACT JOURNALS LLC, 2017-05-30)
The genetic basis underlying the inherited risk of developing multiple myeloma (MM) is largely unknown. To examine the impact of rare protein altering variants on the risk of developing MM we analyzed high-coverage exome ...