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Now showing items 1752-1771 of 4595
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Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element.
(CELL PRESS, 2021-07-01)A combination of genetic and functional approaches has identified three independent breast cancer risk loci at 2q35. A recent fine-scale mapping analysis to refine these associations resulted in 1 (signal 1), 5 (signal 2), ... -
Functional antibody and T cell immunity following SARS-CoV-2 infection, including by variants of concern, in patients with cancer: the CAPTURE study.
(NATURE PORTFOLIO, 2021-09-20)Patients with cancer have higher COVID-19 morbidity and mortality. Here we present the prospective CAPTURE study, integrating longitudinal immune profiling with clinical annotation. Of 357 patients with cancer, 118 were ... -
Functional characterisation of EGFR mutations in cancer
(Institute of Cancer Research (University Of London), 2021-08-31)Large-scale pan-cancer sequencing of tumour samples has identified a plethora of epidermal growth factor (EGFR) mutations along the full length of the gene. However, clinical studies have demonstrated that distinct mutations ... -
Functional characterization of E- and P-cadherin in invasive breast cancer cells
(BIOMED CENTRAL LTD, 2009-03-03)Background: Alterations in the cadherin-catenin adhesion complexes are involved in tumor initiation, progression and metastasis. However, the functional implication of distinct cadherin types in breast cancer biology is ... -
Functional coupling of transcription and splicing
(Elsevier BV, 2012-06-01)The tightly regulated process of precursor messenger RNA (pre-mRNA) alternative splicing is a key mechanism to increase the number and complexity of proteins encoded by the genome. Evidence gathered in recent years has ... -
Functional Data Analysis Applied to Modeling of Severe Acute Mucositis and Dysphagia Resulting From Head and Neck Radiation Therapy.
(ELSEVIER SCIENCE INC, 2016-11-15)PURPOSE: Current normal tissue complication probability modeling using logistic regression suffers from bias and high uncertainty in the presence of highly correlated radiation therapy (RT) dose data. This hinders robust ... -
Functional dissection of inherited non-coding variation influencing multiple myeloma risk.
(NATURE PORTFOLIO, 2022-01-10)Thousands of non-coding variants have been associated with increased risk of human diseases, yet the causal variants and their mechanisms-of-action remain obscure. In an integrative study combining massively parallel ... -
Functional diversity and cooperativity between subclonal populations of pediatric glioblastoma and diffuse intrinsic pontine glioma cells.
(OXFORD UNIV PRESS INC, 2018-05-01)The failure to develop effective therapies for pediatric glioblastoma (pGBM) and diffuse intrinsic pontine glioma (DIPG) is in part due to their intrinsic heterogeneity. We aimed to quantitatively assess the extent to which ... -
Functional genomic analysis of epithelioid sarcoma reveals distinct proximal and distal subtype biology.
(JOHN WILEY & SONS LTD, 2022-07-01)BACKGROUND: Metastatic epithelioid sarcoma (EPS) remains a largely unmet clinical need in children, adolescents and young adults despite the advent of EZH2 inhibitor tazemetostat. METHODS: In order to realise consistently ... -
Functional imaging and circulating biomarkers of response to regorafenib in treatment-refractory metastatic colorectal cancer patients in a prospective phase II study.
(BMJ PUBLISHING GROUP, 2018-08-01)OBJECTIVE: Regorafenib demonstrated efficacy in patients with metastatic colorectal cancer (mCRC). Lack of predictive biomarkers, potential toxicities and cost-effectiveness concerns highlight the unmet need for better ... -
Functional immune responses against SARS-CoV-2 variants of concern after fourth COVID-19 vaccine dose or infection in patients with blood cancer.
(CELL PRESS, 2022-10-18)Patients with blood cancer continue to have a greater risk of inadequate immune responses following three COVID-19 vaccine doses and risk of severe COVID-19 disease. In the context of the CAPTURE study (NCT03226886), we ... -
A functional interaction between liprin-α1 and B56γ regulatory subunit of protein phosphatase 2A supports tumor cell motility.
(NATURE PORTFOLIO, 2022-09-28)Scaffold liprin-α1 is required to assemble dynamic plasma membrane-associated platforms (PMAPs) at the front of migrating breast cancer cells, to promote protrusion and invasion. We show that the N-terminal region of ... -
Functional lung avoidance in radiotherapy using optimisation of biologically effective dose with non-coplanar beam orientations.
(ELSEVIER, 2023-10-01)BACKGROUND AND PURPOSE: In external beam radiotherapy for non-small cell lung cancer, dose to functioning lung should be minimised to reduce lung morbidity. This study aimed to develop a method for avoiding beam delivery ... -
Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus.
(NATURE PORTFOLIO, 2016-09-07)A locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. Here we analyse 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation carriers and 73,444 controls and identify ... -
Functional screening reveals HORMAD1-driven gene dependencies associated with translesion synthesis and replication stress tolerance.
(SPRINGERNATURE, 2022-08-05)HORMAD1 expression is usually restricted to germline cells, but it becomes mis-expressed in epithelial cells in ~60% of triple-negative breast cancers (TNBCs), where it is associated with elevated genomic instability (1). ... -
Functional studies of genome architectural proteins CTCF and ZNF143
(Institute of Cancer Research (University Of London), 2021-09-30)The genome architecture and gene transcription are interdependent. The way chromatin is packed within the nucleus controls when and how genes are expressed. A lot of chromatin interacting proteins are involved to ensure ... -
Functional variants in DCAF4 associated with lung cancer risk in European populations.
(OXFORD UNIV PRESS, 2017-05-01)Cullin-RING ubiquitin ligases (CRLs) responsible for substrate specificity of ubiquitination play a key role in cell-cycle control and DNA damage response. In this study, we assessed associations between 16 599 SNPs in 115 ... -
Functional versus non-functional intratumor heterogeneity in cancer.
(2016-07)Next-generation sequencing data from human cancers are often difficult to interpret within the context of tumor evolution. We developed a mathematical model describing the accumulation of mutations under neutral evolutionary ... -
Functionally Null RAD51D Missense Mutation Associates Strongly with Ovarian Carcinoma.
(AMER ASSOC CANCER RESEARCH, 2017-08-15)RAD51D is a key player in DNA repair by homologous recombination (HR), and RAD51D truncating variant carriers have an increased risk for ovarian cancer. However, the contribution of nontruncating RAD51D variants to cancer ... -
Further characterization of changes in axial strain elastograms due to the presence of slippery tumor boundaries.
(SPIE-SOC PHOTO-OPTICAL INSTRUMENTATION ENGINEERS, 2018-04-01)Elastography measures tissue strain, which can be interpreted under certain simplifying assumptions to be representative of the underlying stiffness distribution. This is useful in cancer diagnosis where tumors tend to ...