Browsing Genetics and Epidemiology by title
Now showing items 447-466 of 515
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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 ... -
Survivors at risk: Hodgkin lymphoma survivors at high risk of second cancers.
(Informa UK Limited, 2017-06-01)Amit Sud speaks to Sebastian Dennis-Beron, Commissioning Editor: Amit Sud is a clinical research fellow in Hematology at the Institute of Cancer Research, UK. He undertook his undergraduate medical training at the University ... -
Susceptibility loci of CNOT6 in the general mRNA degradation pathway and lung cancer risk-A re-analysis of eight GWASs.
(WILEY, 2017-04-01)PURPOSE: mRNA degradation is an important regulatory step for controlling gene expression and cell functions. Genetic abnormalities involved in mRNA degradation genes were found to be associated with cancer risks. Therefore, ... -
Targeted prostate cancer screening in BRCA1 and BRCA2 mutation carriers: results from the initial screening round of the IMPACT study.
(ELSEVIER, 2014-09-01)BACKGROUND: Men with germline breast cancer 1, early onset (BRCA1) or breast cancer 2, early onset (BRCA2) gene mutations have a higher risk of developing prostate cancer (PCa) than noncarriers. IMPACT (Identification of ... -
Targeting aneuploidy, CIN and mechanisms of DNA content reduction in cancer
(Institute of Cancer Research (University Of London), 2021-02-28)Chromosomal instability (CIN) and aneuploidy are distinct events that can coexist in a tumour and one can result from the other. They can arise through direct errors in mitosis or in DNA damage repair and response machineries, ... -
Telemedicine During the COVID-19 Pandemic: Impact on Care for Rare Cancers.
(AMER SOC CLINICAL ONCOLOGY, 2020-06-01)PURPOSE: Many patients with cancer, often those with rare cancers such as sarcomas, travel long distances to access expert care. The COVID-19 pandemic necessitated widespread changes in delivery of cancer care, including ... -
Telomere structure and maintenance gene variants and risk of five cancer types.
(WILEY, 2016-12-15)Telomeres cap chromosome ends, protecting them from degradation, double-strand breaks, and end-to-end fusions. Telomeres are maintained by telomerase, a reverse transcriptase encoded by TERT, and an RNA template encoded ... -
The BARCODE1 Pilot: a feasibility study of using germline single nucleotide polymorphisms to target prostate cancer screening.
(WILEY, 2021-07-02)OBJECTIVES: To assess the feasibility and uptake of a community-based prostate cancer (PCa) screening programme selecting men according to their genetic risk of PCa. To assess the uptake of PCa screening investigations by ... -
The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.
(2018-05)Although the spliceogenic nature of the BRCA2 c.68-7T > A variant has been demonstrated, its association with cancer risk remains controversial. In this study, we accurately quantified by real-time PCR and digital PCR ... -
The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.
(WILEY-HINDAWI, 2018-05-01)Although the spliceogenic nature of the BRCA2 c.68-7T > A variant has been demonstrated, its association with cancer risk remains controversial. In this study, we accurately quantified by real-time PCR and digital PCR ... -
The CHEK2 Variant C.349A>G Is Associated with Prostate Cancer Risk and Carriers Share a Common Ancestor.
(MDPI, 2020-11-04)The identification of recurrent founder variants in cancer predisposing genes may have important implications for implementing cost-effective targeted genetic screening strategies. In this study, we evaluated the prevalence ...