Browsing Genetics and Epidemiology by title
Now showing items 434-453 of 519
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Runs of homozygosity and testicular cancer risk.
(WILEY, 2019-07-01)BACKGROUND: Testicular germ cell tumour (TGCT) is highly heritable but > 50% of the genetic risk remains unexplained. Epidemiological observation of greater relative risk to brothers of men with TGCT compared to sons has ... -
Search for AL amyloidosis risk factors using Mendelian randomization.
(ELSEVIER, 2021-07-13)In amyloid light chain (AL) amyloidosis, amyloid fibrils derived from immunoglobulin light chain are deposited in many organs, interfering with their function. The etiology of AL amyloidosis is poorly understood. Summary ... -
Search for multiple myeloma risk factors using Mendelian randomization.
(AMER SOC HEMATOLOGY, 2020-05-26)The etiology of multiple myeloma (MM) is poorly understood. Summary data from genome-wide association studies (GWASs) of multiple phenotypes can be exploited in a Mendelian randomization (MR) phenome-wide association study ... -
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 ... -
Searching for causal relationships of glioma: a phenome-wide Mendelian randomisation study.
(SPRINGERNATURE, 2021-01-19)BACKGROUND: 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 ... -
Second cancer risk following Hodgkin lymphoma.
(IMPACT JOURNALS LLC, 2017-10-03) -
Second primary cancers in non-Hodgkin lymphoma: Family history and survival.
(WILEY, 2020-02)Second primary cancers (SPCs) account for an increasing proportion of all cancer diagnoses and family history of cancer may be a risk factor for SPCs. Using the Swedish Family-Cancer Database on non-Hodgkin lymphoma (NHL), ... -
Second primary cancers in patients with acute lymphoblastic, chronic lymphocytic and hairy cell leukaemia.
(WILEY, 2019-04-01)Improvement of survival in lymphocytic leukaemia has been accompanied by the occurrence of second primary cancer (SPCs). Based on Swedish Family Cancer Database, we applied bi-directional analyses in which relative risks ... -
Second Revision of the International Staging System (R2-ISS) for Overall Survival in Multiple Myeloma: A European Myeloma Network (EMN) Report Within the HARMONY Project.
(LIPPINCOTT WILLIAMS & WILKINS, 2022-10-10)PURPOSE: Patients with newly diagnosed multiple myeloma (NDMM) show heterogeneous outcomes, and approximately 60% of them are at intermediate-risk according to the Revised International Staging system (R-ISS), the ... -
The sequence kernel association test for multicategorical outcomes.
(WILEY, 2023-04-19)Disease heterogeneity is ubiquitous in biomedical and clinical studies. In genetic studies, researchers are increasingly interested in understanding the distinct genetic underpinning of subtypes of diseases. However, ... -
Sequencing of prostate cancers identifies new cancer genes, routes of progression and drug targets.
(NATURE PUBLISHING GROUP, 2018-05-01)Prostate cancer represents a substantial clinical challenge because it is difficult to predict outcome and advanced disease is often fatal. We sequenced the whole genomes of 112 primary and metastatic prostate cancer ... -
Sequential Monte Carlo with transformations.
(SPRINGER, 2020-05-01)This paper examines methodology for performing Bayesian inference sequentially on a sequence of posteriors on spaces of different dimensions. For this, we use sequential Monte Carlo samplers, introducing the innovation of ... -
Serum testosterone and prostate cancer in men with germline BRCA1/2 pathogenic variants.
(WILEY, 2023-05-01)OBJECTIVES: The relation of serum androgens and the development of prostate cancer (PCa) is subject of debate. Lower total testosterone (TT) levels have been associated with increased PCa detection and worse pathological ... -
Sex-specific gene and pathway modeling of inherited glioma risk.
(OXFORD UNIV PRESS INC, 2019-01-01)BACKGROUND: To date, genome-wide association studies (GWAS) have identified 25 risk variants for glioma, explaining 30% of heritable risk. Most histologies occur with significantly higher incidence in males, and this ... -
Sex-specific glioma genome-wide association study identifies new risk locus at 3p21.31 in females, and finds sex-differences in risk at 8q24.21.
(NATURE PORTFOLIO, 2018-05-09)Incidence of glioma is approximately 50% higher in males. Previous analyses have examined exposures related to sex hormones in women as potential protective factors for these tumors, with inconsistent results. Previous ... -
seXY: a tool for sex inference from genotype arrays.
(OXFORD UNIV PRESS, 2017-02-15)MOTIVATION: Checking concordance between reported sex and genotype-inferred sex is a crucial quality control measure in genome-wide association studies (GWAS). However, limited insights exist regarding the true accuracy ... -
Shared heritability and functional enrichment across six solid cancers.
(NATURE PORTFOLIO, 2019-01-25)Quantifying the genetic correlation between cancers can provide important insights into the mechanisms driving cancer etiology. Using genome-wide association study summary statistics across six cancer types based on a total ... -
Signatures of TOP1 transcription-associated mutagenesis in cancer and germline.
(NATURE PORTFOLIO, 2022-02-24)The mutational landscape is shaped by many processes. Genic regions are vulnerable to mutation but are preferentially protected by transcription-coupled repair1. In microorganisms, transcription has been demonstrated to ... -
Simulations of DNA topoisomerase 1B bound to supercoiled DNA reveal changes in the flexibility pattern of the enzyme and a secondary protein–DNA binding site
(Oxford University Press (OUP), 2014-08-18)Human topoisomerase 1B has been simulated covalently bound to a negatively supercoiled DNA minicircle, and its behavior compared to the enzyme bound to a simple linear DNA duplex. The presence of the more realistic supercoiled ... -
Smoking and risk of breast cancer in the Generations Study cohort.
(BMC, 2017-11-22)BACKGROUND: Plausible biological reasons exist regarding why smoking could affect breast cancer risk, but epidemiological evidence is inconsistent. METHODS: We used serial questionnaire information from the Generations ...