Recent submissions
Now showing items 21-40 of 519
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The impact of coding germline variants on contralateral breast cancer risk and survival.
(CELL PRESS, 2023-03-02)Evidence linking coding germline variants in breast cancer (BC)-susceptibility genes other than BRCA1, BRCA2, and CHEK2 with contralateral breast cancer (CBC) risk and breast cancer-specific survival (BCSS) is scarce. The ... -
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 ... -
PREDICT validity for prognosis of breast cancer patients with pathogenic BRCA1/2 variants.
(NATURE PORTFOLIO, 2023-05-12)We assessed the PREDICT v 2.2 for prognosis of breast cancer patients with pathogenic germline BRCA1 and BRCA2 variants, using follow-up data from 5453 BRCA1/2 carriers from the Consortium of Investigators of Modifiers of ... -
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 ... -
Potential utility of risk stratification for multicancer screening with liquid biopsy tests.
(NATURE PORTFOLIO, 2023-04-22)Our proof-of-concept study reveals the potential of risk stratification by the combined effects of age, polygenic risk scores (PRS), and non-genetic risk factors in increasing the risk-benefit balance of rapidly emerging ... -
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, ... -
Daratumumab, Cyclophosphamide, Bortezomib, Lenalidomide, and Dexamethasone as Induction and Extended Consolidation Improves Outcome in Ultra-High-Risk Multiple Myeloma.
(LIPPINCOTT WILLIAMS & WILKINS, 2023-08-10)PURPOSE: The multicenter OPTIMUM (MUKnine) phase II trial investigated daratumumab, low-dose cyclophosphamide, lenalidomide, bortezomib, and dexamethasone (Dara-CVRd) before and after autologous stem-cell transplant (ASCT) ... -
Associations between genetic variants in mRNA splicing-related genes and risk of lung cancer: a pathway-based analysis from published GWASs.
(NATURE PORTFOLIO, 2017-03-17)mRNA splicing is an important mechanism to regulate mRNA expression. Abnormal regulation of this process may lead to lung cancer. Here, we investigated the associations of 11,966 single-nucleotide polymorphisms (SNPs) in ... -
Novel genetic variants in the P38MAPK pathway gene ZAK and susceptibility to lung cancer.
(WILEY, 2018-02-01)The P38MAPK pathway participates in regulating cell cycle, inflammation, development, cell death, cell differentiation, and tumorigenesis. Genetic variants of some genes in the P38MAPK pathway are reportedly associated ... -
Whole-genome sequencing of chronic lymphocytic leukaemia reveals distinct differences in the mutational landscape between IgHVmut and IgHVunmut subgroups.
(NATURE PUBLISHING GROUP, 2018-02-01)Chronic lymphocytic leukaemia (CLL) consists of two biologically and clinically distinct subtypes defined by the abundance of somatic hypermutation (SHM) affecting the Ig variable heavy-chain locus (IgHV). The molecular ... -
Pattern Recognition Receptor Polymorphisms as Predictors of Oxaliplatin Benefit in Colorectal Cancer.
(OXFORD UNIV PRESS INC, 2019-08-01)BACKGROUND: Constitutional loss of function (LOF) single nucleotide polymorphisms (SNPs) in pattern recognition receptors FPR1, TLR3, and TLR4 have previously been reported to predict oxaliplatin benefit in colorectal ... -
Meeting report from the joint IARC-NCI international cancer seminar series: a focus on colorectal cancer.
(ELSEVIER, 2019-04-01)Despite significant progress in our understanding of the etiology, biology and genetics of colorectal cancer, as well as important clinical advances, it remains the third most frequently diagnosed cancer worldwide and is ... -
Algorithmic considerations when analysing capture Hi-C data.
(2020-01-01)Chromosome conformation capture methodologies have provided insight into the effect of 3D genomic architecture on gene regulation. Capture Hi-C (CHi-C) is a recent extension of Hi-C that improves the effective resolution ... -
Genetic predisposition to mosaic Y chromosome loss in blood.
(NATURE PORTFOLIO, 2019-11-28)Mosaic loss of chromosome Y (LOY) in circulating white blood cells is the most common form of clonal mosaicism1-5, yet our knowledge of the causes and consequences of this is limited. Here, using a computational approach, ... -
Transcriptome-wide association study reveals candidate causal genes for lung cancer.
(WILEY, 2020-04-01)We have recently completed the largest GWAS on lung cancer including 29,266 cases and 56,450 controls of European descent. The goal of our study has been to integrate the complete GWAS results with a large-scale expression ... -
Weekly COVID-19 testing with household quarantine and contact tracing is feasible and would probably end the epidemic.
(ROYAL SOC, 2020-06-24)The COVID-19 epidemic can probably be ended and normal life restored, perhaps quite quickly, by weekly SARS-CoV-2 RNA testing together with household quarantine and systematic contact tracing. Isolated outbreaks could then ... -
Genetically predicted physical activity levels are associated with lower colorectal cancer risk: a Mendelian randomisation study.
(SPRINGERNATURE, 2021-03-30)BACKGROUND: We conducted a Mendelian randomisation (MR) study to investigate whether physical activity (PA) causes a reduction of colorectal cancer risk and to understand the contributions of effects mediated through changes ... -
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 ... -
Genetic variation in ST6GAL1 is a determinant of capecitabine and oxaliplatin induced hand-foot syndrome.
(WILEY, 2022-09-15)Cancer patients treated with capecitabine and oxaliplatin (XELOX) often develop hand-foot syndrome (HFS) or palmar-plantar erythrodysesthesia. Genetic variation in ST6GAL1 is a risk factor for type-2 diabetes (T2D), a ... -
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 ...