Recent submissions
Now showing items 461-480 of 525
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The non-coding variant rs1800734 enhances DCLK3 expression through long-range interaction and promotes colorectal cancer progression.
(NATURE PORTFOLIO, 2017-02-14)Genome-wide association studies have identified a great number of non-coding risk variants for colorectal cancer (CRC). To date, the majority of these variants have not been functionally studied. Identification of ... -
BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer.
(AMER ASSOC CANCER RESEARCH, 2017-06-01)Breast cancer risks conferred by many germline missense variants in the BRCA1 and BRCA2 genes, often referred to as variants of uncertain significance (VUS), have not been established. In this study, associations between ... -
Genetic and regulatory mechanism of susceptibility to high-hyperdiploid acute lymphoblastic leukaemia at 10p21.2.
(NATURE PORTFOLIO, 2017-03-03)Despite high-hyperdiploid acute lymphoblastic leukaemia (HD-ALL) being the most common subgroup of paediatric ALL, its aetiology remains unknown. Genome-wide association studies have demonstrated association at 10q21.2. ... -
Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus.
(BMC, 2016-06-21)BACKGROUND: Multiple recent genome-wide association studies (GWAS) have identified a single nucleotide polymorphism (SNP), rs10771399, at 12p11 that is associated with breast cancer risk. METHOD: We performed a fine-scale ... -
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 ... -
Genome-wide association study of immunoglobulin light chain amyloidosis in three patient cohorts: comparison with myeloma.
(NATURE PUBLISHING GROUP, 2017-08-01)Immunoglobulin light chain (AL) amyloidosis is characterized by tissue deposition of amyloid fibers derived from immunoglobulin light chain. AL amyloidosis and multiple myeloma (MM) originate from monoclonal gammopathy of ... -
Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.
(MASSACHUSETTS MEDICAL SOC, 2016-08-04)BACKGROUND: Inherited mutations in DNA-repair genes such as BRCA2 are associated with increased risks of lethal prostate cancer. Although the prevalence of germline mutations in DNA-repair genes among men with localized ... -
Alcohol consumption and prostate cancer incidence and progression: A Mendelian randomisation study.
(WILEY, 2017-01-01)Prostate cancer is the most common cancer in men in developed countries, and is a target for risk reduction strategies. The effects of alcohol consumption on prostate cancer incidence and survival remain unclear, potentially ... -
Childhood body size and pubertal timing in relation to adult mammographic density phenotype.
(BMC, 2017-02-07)BACKGROUND: An earlier age at onset of breast development and longer time between pubertal stages has been implicated in breast cancer risk. It is not clear whether associations of breast cancer risk with puberty or ... -
Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer.
(NATURE PUBLISHING GROUP, 2016-06-22)Colorectal cancer (CRC) displays a complex pattern of inheritance. It is postulated that much of the missing heritability of CRC is enshrined in high-impact rare alleles, which are mechanistically and clinically important. ... -
Pleiotropic Analysis of Lung Cancer and Blood Triglycerides.
(OXFORD UNIV PRESS INC, 2016-12-01)Epidemiologically related traits may share genetic risk factors, and pleiotropic analysis could identify individual loci associated with these traits. Because of their shared epidemiological associations, we conducted ... -
Genome-wide association study identifies multiple susceptibility loci for multiple myeloma.
(NATURE PUBLISHING GROUP, 2016-07-01)Multiple myeloma (MM) is a plasma cell malignancy with a significant heritable basis. Genome-wide association studies have transformed our understanding of MM predisposition, but individual studies have had limited power ... -
Investigating the possible causal role of coffee consumption with prostate cancer risk and progression using Mendelian randomization analysis.
(WILEY, 2017-01-15)Coffee consumption has been shown in some studies to be associated with lower risk of prostate cancer. However, it is unclear if this association is causal or due to confounding or reverse causality. We conducted a Mendelian ... -
Genome-wide association analysis of chronic lymphocytic leukaemia, Hodgkin lymphoma and multiple myeloma identifies pleiotropic risk loci.
(NATURE PORTFOLIO, 2017-01-23)B-cell malignancies (BCM) originate from the same cell of origin, but at different maturation stages and have distinct clinical phenotypes. Although genetic risk variants for individual BCMs have been identified, an agnostic, ... -
Baseline results from the UK SIGNIFY study: a whole-body MRI screening study in TP53 mutation carriers and matched controls.
(SPRINGER, 2017-07-01)In the United Kingdom, current screening guidelines for TP53 germline mutation carriers solely recommends annual breast MRI, despite the wide spectrum of malignancies typically seen in this group. This study sought to ... -
Rare disruptive mutations in ciliary function genes contribute to testicular cancer susceptibility.
(NATURE PUBLISHING GROUP, 2016-12-20)Testicular germ cell tumour (TGCT) is the most common cancer in young men. Here we sought to identify risk factors for TGCT by performing whole-exome sequencing on 328 TGCT cases from 153 families, 634 sporadic TGCT cases ... -
Effect of population breast screening on breast cancer mortality up to 2005 in England and Wales: an individual-level cohort study.
(SPRINGERNATURE, 2017-01-17)BACKGROUND: Population breast screening has been implemented in the UK for over 25 years, but the size of benefit attributable to such programmes remains controversial. We have conducted the first individual-based cohort ... -
Variation at 2q35 (PNKD and TMBIM1) influences colorectal cancer risk and identifies a pleiotropic effect with inflammatory bowel disease.
(OXFORD UNIV PRESS, 2016-06-01)To identify new risk loci for colorectal cancer (CRC), we conducted a meta-analysis of seven genome-wide association studies (GWAS) with independent replication, totalling 13 656 CRC cases and 21 667 controls of European ... -
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, ...