Browsing Genetics and Epidemiology by title
Now showing items 433-452 of 510
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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 ... -
SNP interaction pattern identifier (SIPI): an intensive search for SNP-SNP interaction patterns.
(OXFORD UNIV PRESS, 2017-03-15)MOTIVATION: Testing SNP-SNP interactions is considered as a key for overcoming bottlenecks of genetic association studies. However, related statistical methods for testing SNP-SNP interactions are underdeveloped. RESULTS: ... -
Somatic PIK3CA Mutations in Sporadic Cerebral Cavernous Malformations.
(MASSACHUSETTS MEDICAL SOC, 2021-09-09)BACKGROUND: Cerebral cavernous malformations (CCMs) are common sporadic and inherited vascular malformations of the central nervous system. Although familial CCMs are linked to loss-of-function mutations in KRIT1 (CCM1), ... -
Subclonal TP53 copy number is associated with prognosis in multiple myeloma.
(AMER SOC HEMATOLOGY, 2018-12-06)Multiple myeloma (MM) is a genetically heterogeneous cancer of bone marrow plasma cells with variable outcome. To assess the prognostic relevance of clonal heterogeneity of TP53 copy number, we profiled tumors from 1777 ... -
Survival in hematological malignancies in the Nordic countries through a half century with correlation to treatment.
(SPRINGERNATURE, 2023-04-01)Studies of survival in hematological malignancies (HMs) have generally shown an improvement over time, although most of these studies are limited by a short follow-up period. Using the NORDCAN database with data from ...