Browsing Genetics and Epidemiology by title
Now showing items 264-283 of 510
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Identification of recurrent noncoding mutations in B-cell lymphoma using capture Hi-C.
(AMER SOC HEMATOLOGY, 2019-01-08)The identification of driver mutations is fundamental to understanding oncogenesis. Although genes frequently mutated in B-cell lymphoma have been identified, the search for driver mutations has largely focused on the ... -
Identification of susceptibility pathways for the role of chromosome 15q25.1 in modifying lung cancer risk.
(NATURE RESEARCH, 2018-08-13)Genome-wide association studies (GWAS) identified the chromosome 15q25.1 locus as a leading susceptibility region for lung cancer. However, the pathogenic pathways, through which susceptibility SNPs within chromosome 15q25.1 ... -
Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer.
(NATURE PORTFOLIO, 2017-12-01)Most common breast cancer susceptibility variants have been identified through genome-wide association studies (GWAS) of predominantly estrogen receptor (ER)-positive disease. We conducted a GWAS using 21,468 ER-negative ... -
Immune responses to COVID-19 booster vaccinations in intensively anti-CD38 antibody treated patients with ultra-high-risk multiple myeloma: results from the Myeloma UK (MUK) nine OPTIMUM trial.
(WILEY, 2023-06-01)Multiple myeloma (MM) and anti-MM therapy cause profound immunosuppression, leaving patients vulnerable to coronavirus disease 2019 (COVID-19) and other infections. We investigated anti-severe acute respiratory syndrome ... -
Impact of atopy on risk of glioma: a Mendelian randomisation study.
(BMC, 2018-03-15)BACKGROUND: 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 ... -
Impact of germline DNA repair gene variants on prognosis and treatment of men with advanced prostate cancer.
(NATURE PORTFOLIO, 2023-11-06)The clinical importance of germline variants in DNA repair genes (DRGs) is becoming increasingly recognized, but their impact on advanced prostate cancer prognosis remains unclear. A cohort of 221 newly diagnosed metastatic ... -
Impact of mitochondrial DNA mutations in multiple myeloma.
(NATURE PUBLISHING GROUP, 2020-05-01) -
Impact of Ultra High-risk Genetics on Real-world Outcomes of Transplant-eligible Multiple Myeloma Patients.
(LIPPINCOTT WILLIAMS & WILKINS, 2023-02-01)Refined prediction of early relapse following standard-of-care (SoC) autologous stem cell transplant (ASCT) in newly diagnosed multiple myeloma (NDMM) could inform real-world risk-stratified post-ASCT strategies. We ... -
Implementation of Whole-Body MRI (MY-RADS) within the OPTIMUM/MUKnine multi-centre clinical trial for patients with myeloma.
(SPRINGER, 2022-07-28)BACKGROUND: Whole-body (WB) MRI, which includes diffusion-weighted imaging (DWI) and T1-w Dixon, permits sensitive detection of marrow disease in addition to qualitative and quantitative measurements of disease and response ... -
Implementing rapid, robust, cost-effective, patient-centred, routine genetic testing in ovarian cancer patients.
(NATURE PORTFOLIO, 2016-07-13)Advances in DNA sequencing have made genetic testing fast and affordable, but limitations of testing processes are impeding realisation of patient benefits. Ovarian cancer exemplifies the potential value of genetic testing ... -
Incorporating germline genetics into personalised risk-assessment in the detection of prostate cancer in men with an elevated genetic risk
(Institute of Cancer Research (University Of London), 2022-11-23)Hypothesis - Prostate biopsy outcomes for men with a genetic predisposition to prostate cancer (PrCa) can be predicted from germline genetic profiling and clinical factors. Prostate cancer (PrCa) is the second most common ... -
Increase in power by obtaining 10 or more controls per case when type-1 error is small in large-scale association studies.
(BMC, 2023-06-29)BACKGROUND: The rule of thumb that there is little gain in statistical power by obtaining more than 4 controls per case, is based on type-1 error α = 0.05. However, association studies that evaluate thousands or millions ... -
Influence of obesity-related risk factors in the aetiology of glioma.
(SPRINGERNATURE, 2018-04-01)BACKGROUND: 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 ... -
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 ... -
Insight into genetic predisposition to chronic lymphocytic leukemia from integrative epigenomics.
(NATURE PUBLISHING GROUP, 2019-08-09)Genome-wide association studies have provided evidence for inherited genetic predisposition to chronic lymphocytic leukemia (CLL). To gain insight into the mechanisms underlying CLL risk we analyze chromatin accessibility, ... -
Interim Results from the IMPACT Study: Evidence for Prostate-specific Antigen Screening in BRCA2 Mutation Carriers.
(ELSEVIER, 2019-09-18)BACKGROUND: Mutations in BRCA2 cause a higher risk of early-onset aggressive prostate cancer (PrCa). The IMPACT study is evaluating targeted PrCa screening using prostate-specific-antigen (PSA) in men with germline BRCA1/2 ... -
Investigating a range of late effects of Hodgkin lymphoma treatments
(Institute of Cancer Research (University Of London), 2021-01-31)Dramatic improvement in Hodgkin lymphoma (HL) survival rates over recent decades has come at significant cost: treatment-related late effects which are epitomised in female HL patients treated at young ages. The aims of ... -
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 ... -
Ixazomib with cyclophosphamide and dexamethasone in relapsed or refractory myeloma: MUKeight phase II randomised controlled trial results.
(SPRINGERNATURE, 2022-04-01)The all-oral combination of ixazomib, cyclophosphamide, and dexamethasone (ICD) is well tolerated and effective in newly diagnosed and relapsed multiple myeloma (MM). We carried out MUKeight, a randomised, controlled, open, ...