17 Result(s)
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Chapter
Use of DNA technology in the diagnosis of occult atherosclerotic disease
Cardiovascular disease (CVD) is a major contributor to mortality in western industrialised countries [1]. Its principle cause is atherosclerosis, with clinical effects only becoming apparant after years of asy...
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Chapter
Genetics and the common cancers
The importance of inherited predisposition is now established for a number of common cancers and the mechanisms by which mutations in some genes leads to cancer are at least partially understood. The ability t...
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Article
Contribution of cyclin d1 (CCND1) and E-cadherin (CDH1) polymorphisms to familial and sporadic colorectal cancer
The molecular basis for most non-HNPCC familial colorectal cancer cases is unknown, but there is increasing evidence that common genetic variants may play a role. We investigated the contribution of polymorphi...
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Article
The search for low-penetrance cancer susceptibility alleles
Much of the familial aggregation of common cancer results from inherited susceptibility, but highly penetrant mutations in known genes cannot account for most of the excess. Some of the unexplained familial ri...
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Article
Familial chronic lymphocytic leukemia
The role of inherited genetic factors in the etiology of chronic lymphocytic leukemia (CLL) and other B-cell lymphoproliferative disorders is now well established. Significant familial aggregation of CLL and B...
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Chapter
Polymorphic Variation and Risk of Colorectal Cancer
Colorectal cancer (CRC) is the third commonest cancer worldwide after lung and breast cancer, and two-thirds of CRCs occur in developed countries [1, 2]. Despite recent advances in treatment the prognosis for CRC...
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Article
Open AccessImpact of atopy on risk of glioma: a Mendelian randomisation study
An inverse relationship between allergies with glioma risk has been reported in several but not all epidemiological observational studies. We performed an analysis of genetic variants associated with atopy to ...
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Article
Open AccessDiffuse gliomas classified by 1p/19q co-deletion, TERT promoter and IDH mutation status are associated with specific genetic risk loci
Recent genome-wide association studies of glioma have led to the discovery of single nucleotide polymorphisms (SNPs) at 25 loci influencing risk. Gliomas are heterogeneous, hence to investigate the relationshi...
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Article
Open AccessGlioma-related seizures in relation to histopathological subtypes: a report from the glioma international case–control study
The purpose of this study was to evaluate the distribution of glioma-related seizures and seizure control at the time of tumor diagnosis with respect to tumor histologic subtypes, tumor treatment and patient c...
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Article
Open AccessWhole-genome sequencing of multiple myeloma reveals oncogenic pathways are targeted somatically through multiple mechanisms
Multiple myeloma (MM) is a biologically heterogeneous malignancy, however, the mechanisms underlying this complexity are incompletely understood. We report an analysis of the whole-genome sequencing of 765 MM ...
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Article
Open AccessGenetic predisposition to B-cell acute lymphoblastic leukemia at 14q11.2 is mediated by a CEBPE promoter polymorphism
Acute lymphoblastic leukaemia (ALL) is the most common paediatric malignancy. Genome-wide association studies have shown variation at 14q11.2 influences ALL risk. We sought to decipher causal variant(s) at 14q...
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Article
Genetic predisposition for multiple myeloma
Multiple myeloma (MM) is the second most common blood malignancy. Epidemiological family studies going back to the 1920s have provided evidence for familial aggregation, suggesting a subset of cases have an in...
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Article
Open AccessPredicting ultrahigh risk multiple myeloma by molecular profiling: an analysis of newly diagnosed transplant eligible myeloma XI trial patients
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Article
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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Article
Open AccessThe clinical utility of polygenic risk scores for chronic lymphocytic leukemia
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Article
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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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...
