Browsing Genetics and Epidemiology by title
Now showing items 76-95 of 515
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Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.
(NATURE PUBLISHING GROUP, 2016-04-01)We analyzed 3,872 common genetic variants across the ESR1 locus (encoding estrogen receptor α) in 118,816 subjects from three international consortia. We found evidence for at least five independent causal variants, each ... -
Bromodomain protein 4 discriminates tissue-specific super-enhancers containing disease-specific susceptibility loci in prostate and breast cancer.
(BIOMED CENTRAL LTD, 2017-03-31)BACKGROUND: Epigenetic information can be used to identify clinically relevant genomic variants single nucleotide polymorphisms (SNPs) of functional importance in cancer development. Super-enhancers are cell-specific DNA ... -
Browser-based Data Annotation, Active Learning, and Real-Time Distribution of Artificial Intelligence Models: From Tumor Tissue Microarrays to COVID-19 Radiology.
(Elsevier BV, 2021-01-01)BACKGROUND: Artificial intelligence (AI) is fast becoming the tool of choice for scalable and reliable analysis of medical images. However, constraints in sharing medical data outside the institutional or geographical ... -
Cancer drivers and clonal dynamics in acute lymphoblastic leukaemia subtypes
(2021-04-15)To obtain a comprehensive picture of composite genetic drivers events and clonal dynamics in subtypes of paediatric acute lymphoblastic leukaemia (ALL) we analysed tumour-normal whole genome sequencing and expression data ... -
Cancer drivers and clonal dynamics in acute lymphoblastic leukaemia subtypes.
(SPRINGERNATURE, 2021-11-09)To obtain a comprehensive picture of composite genetic driver events and clonal dynamics in subtypes of paediatric acute lymphoblastic leukaemia (ALL) we analysed tumour-normal whole genome sequencing and expression data ... -
Cancer genetics, precision prevention and a call to action.
(NATURE PUBLISHING GROUP, 2018-09-01)More than 15 years have passed since the identification, through linkage, of 'first-wave' susceptibility genes for common cancers (BRCA1, BRCA2, MLH1 and MSH2). These genes have strong frequency-penetrance profiles, such ... -
Cancer incidence and mortality in 23 000 patients with type 1 diabetes in the UK: Long-term follow-up.
(WILEY, 2023-08-01)Type 2 diabetes is associated with raised risk of several cancers, but for type 1 diabetes risk data are fewer and inconsistent We assembled a cohort of 23 473 UK patients with insulin-treated diabetes diagnosed at ages ... -
Cancer Risks in Patients Treated With Growth Hormone in Childhood: The SAGhE European Cohort Study.
(ENDOCRINE SOC, 2017-05-01)CONTEXT: Growth hormone (GH) is prescribed for an increasing range of indications, but there has been concern that it might raise cancer risk. Published data are limited. OBJECTIVE: To examine cancer risks in relation to ... -
Candidate gene association studies and risk of Hodgkin lymphoma: a systematic review and meta-analysis.
(WILEY, 2017-03-01)To evaluate the contribution of association studies of candidate polymorphisms to inherited predisposition to Hodgkin lymphoma (HL), we conducted a systematic review and meta-analysis of published case-control studies. Of ... -
Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.
(AMER ASSOC CANCER RESEARCH, 2015-01-01)BACKGROUND: BRCA1 and BRCA2 mutation carriers are at substantially increased risk for developing breast and ovarian cancer. The incomplete penetrance coupled with the variable age at diagnosis in carriers of the same ... -
CanRisk-Prostate: A Comprehensive, Externally Validated Risk Model for the Prediction of Future Prostate Cancer.
(LIPPINCOTT WILLIAMS & WILKINS, 2023-02-10)PURPOSE: Prostate cancer (PCa) is highly heritable. No validated PCa risk model currently exists. We therefore sought to develop a genetic risk model that can provide personalized predicted PCa risks on the basis of known ... -
CanVar: A resource for sharing germline variation in cancer patients.
(F1000 Research Ltd, 2016-01-01)The advent of high-throughput sequencing has accelerated our ability to discover genes predisposing to disease and is transforming clinical genomic sequencing. In both contexts knowledge of the spectrum and frequency of ... -
Capture Hi-C identifies the chromatin interactome of colorectal cancer risk loci.
(NATURE PORTFOLIO, 2015-02-19)Multiple regulatory elements distant from their targets on the linear genome can influence the expression of a single gene through chromatin looping. Chromosome conformation capture implemented in Hi-C allows for genome-wide ... -
Capture Hi-C Library Generation and Analysis to Detect Chromatin Interactions.
(Wiley, 2018-07-06)Chromosome conformation capture (3C), coupled with next-generation sequencing (Hi-C), provides a means for deciphering not only the principles underlying genome folding and architecture, but more broadly, the role 3D ... -
Carboplatin in BRCA1/2-mutated and triple-negative breast cancer BRCAness subgroups: the TNT Trial.
(NATURE PUBLISHING GROUP, 2018-04-30)Germline mutations in BRCA1/2 predispose individuals to breast cancer (termed germline-mutated BRCA1/2 breast cancer, gBRCA-BC) by impairing homologous recombination (HR) and causing genomic instability. HR also repairs ... -
Carfilzomib or bortezomib in combination with cyclophosphamide and dexamethasone followed by carfilzomib maintenance for patients with multiple myeloma after one prior therapy: results from a multicenter, phase II, randomized, controlled trial (MUKfive).
(FERRATA STORTI FOUNDATION, 2021-10-01)The proteasome inhibitors, carfilzomib and bortezomib, are widely used to treat myeloma but head-to-head comparisons have produced conflicting results. We compared the activity of these proteasome inhibitors in combination ... -
Cell-type-specific eQTL of primary melanocytes facilitates identification of melanoma susceptibility genes.
(COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT, 2018-11-01)Most expression quantitative trait locus (eQTL) studies to date have been performed in heterogeneous tissues as opposed to specific cell types. To better understand the cell-type-specific regulatory landscape of human ... -
Characterization of sebaceous and non-sebaceous cutaneous manifestations in patients with lynch syndrome: a systematic review.
(SPRINGER, 2022-11-23)A subset of patients with Lynch Syndrome demonstrates cutaneous manifestations of the disorder. Characterization of these Lynch-related skin lesions could help in early recognition of patients with Lynch Syndrome. A broad ... -
Characterizing genetic variants for clinical action.
(2014-03-13)Genome-wide association studies, DNA sequencing studies, and other genomic studies are finding an increasing number of genetic variants associated with clinical phenotypes that may be useful in developing diagnostic, ... -
Chemotherapy-related hyperbilirubinemia in pediatric acute lymphoblastic leukemia: a genome-wide association study from the AIEOP-BFM ALL study group.
(BMC, 2023-01-13)BACKGROUND: Characterization of clinical phenotypes in context with tumor and host genomic information can aid in the development of more effective and less toxic risk-adapted and targeted treatment strategies. To analyze ...