Browsing ICR Divisions by title
Now showing items 3477-3496 of 4595
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Rare disruptive mutations in ciliary function genes contribute to testicular cancer susceptibility.
(NATURE PUBLISHING GROUP, 2016-12-20)Testicular germ cell tumour (TGCT) is the most common cancer in young men. Here we sought to identify risk factors for TGCT by performing whole-exome sequencing on 328 TGCT cases from 153 families, 634 sporadic TGCT cases ... -
Rare epidermal growth factor receptor (EGFR) mutations in non-small cell lung cancer.
(ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD, 2020-04-01)Epidermal growth factor receptor (EGFR) mutations are the second most common oncogenic driver event in non-small cell lung cancer (NSCLC). Classical activating mutations (exon 19 deletions and the L858R point mutation) ... -
Rare germline copy number variants (CNVs) and breast cancer risk.
(NATURE PORTFOLIO, 2022-01-18)Germline copy number variants (CNVs) are pervasive in the human genome but potential disease associations with rare CNVs have not been comprehensively assessed in large datasets. We analysed rare CNVs in genes and non-coding ... -
Rare Germline Variants Are Associated with Rapid Biochemical Recurrence After Radical Prostate Cancer Treatment: A Pan Prostate Cancer Group Study.
(ELSEVIER, 2022-08-01)BACKGROUND: Germline variants explain more than a third of prostate cancer (PrCa) risk, but very few associations have been identified between heritable factors and clinical progression. OBJECTIVE: To find rare germline ... -
Rare Germline Variants in ATM Predispose to Prostate Cancer: A PRACTICAL Consortium Study.
(ELSEVIER, 2021-01-09)BACKGROUND: Germline ATM mutations are suggested to contribute to predisposition to prostate cancer (PrCa). Previous studies have had inadequate power to estimate variant effect sizes. OBJECTIVE: To precisely estimate the ... -
Rare germline variants in DNA repair genes and the angiogenesis pathway predispose prostate cancer patients to develop metastatic disease.
(SPRINGERNATURE, 2018-07-03)BACKGROUND: Prostate cancer (PrCa) demonstrates a heterogeneous clinical presentation ranging from largely indolent to lethal. We sought to identify a signature of rare inherited variants that distinguishes between these ... -
Rare non-epithelial ovarian neoplasms: Pathology, genetics and treatment.
(2016-07)Rare non-epithelial ovarian neoplasms have posed management challenges for many years. Their rarity means that most specialist practitioners will see one such case every several years, and most generalists may never see a ... -
Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer.
(NATURE PUBLISHING GROUP, 2014-09-11)We conducted imputation to the 1000 Genomes Project of four genome-wide association studies of lung cancer in populations of European ancestry (11,348 cases and 15,861 controls) and genotyped an additional 10,246 cases and ... -
Rare Variation in Drug Metabolism and Long QT Genes and the Genetic Susceptibility to Acquired Long QT Syndrome.
(LIPPINCOTT WILLIAMS & WILKINS, 2022-02-03)BACKGROUND: Acquired long QT syndrome (aLQTS) is a serious unpredictable adverse drug reaction. Pharmacogenomic markers may predict risk. METHODS: Among 153 aLQTS patients (mean age 58 years [range, 14-88], 98.7% White, ... -
RAS oncogenic activity predicts response to chemotherapy and outcome in lung adenocarcinoma.
(NATURE PORTFOLIO, 2022-09-26)Activating mutations in KRAS occur in 32% of lung adenocarcinomas (LUAD). Despite leading to aggressive disease and resistance to therapy in preclinical studies, the KRAS mutation does not predict patient outcome or response ... -
RAS signalling through PI3-Kinase controls cell migration via modulation of Reelin expression.
(2016-04-13)RAS signalling through phosphoinositide 3-kinase (PI3-Kinase) has been shown to have an essential role in tumour initiation and maintenance. RAS also regulates cell motility and tumour invasiveness, but the role of direct ... -
The rate and spectrum of mosaic mutations during embryogenesis revealed by RNA sequencing of 49 tissues.
(BMC, 2020-05-27)BACKGROUND: Mosaic mutations acquired during early embryogenesis can lead to severe early-onset genetic disorders and cancer predisposition, but are often undetectable in blood samples. The rate and mutational spectrum of ... -
Rational design of non-resistant targeted cancer therapies.
(NATURE PORTFOLIO, 2017-04-24)Drug resistance is one of the major problems in targeted cancer therapy. A major cause of resistance is changes in the amino acids that form the drug-target binding site. Despite of the numerous efforts made to individually ... -
Rationale and design of the POLEM trial: avelumab plus fluoropyrimidine-based chemotherapy as adjuvant treatment for stage III mismatch repair deficient or POLE exonuclease domain mutant colon cancer: a phase III randomised study.
(ELSEVIER, 2020-01-01)BACKGROUND: 10%-15% of early-stage colon cancers harbour either deficient mismatch repair (dMMR), microsatellite instability high (MSI-H) or POLE exonuclease domain mutations, and are characterised by high tumour mutational ... -
Rationale for Modernising Imaging in Advanced Prostate Cancer.
(ELSEVIER, 2017-04-01)CONTEXT: To effectively manage patients with advanced prostate cancer (APC), it is essential to have accurate, reproducible, and validated methods for detecting and quantifying the burden of bone and soft tissue metastases ... -
RavN is a member of a previously unrecognized group of Legionella pneumophila E3 ubiquitin ligases.
(PUBLIC LIBRARY SCIENCE, 2018-02-01)The eukaryotic ubiquitylation machinery catalyzes the covalent attachment of the small protein modifier ubiquitin to cellular target proteins in order to alter their fate. Microbial pathogens exploit this post-translational ... -
RAZOR: A Phase II Open Randomized Trial of Screening Plus Goserelin and Raloxifene Versus Screening Alone in Premenopausal Women at Increased Risk of Breast Cancer.
(AMER ASSOC CANCER RESEARCH, 2018-01-01)Background: Ovarian suppression in premenopausal women is known to reduce breast cancer risk. This study aimed to assess uptake and compliance with ovarian suppression using the luteinizing hormone releasing hormone (LHRH) ... -
RB/E2F1 as a Master Regulator of Cancer Cell Metabolism in Advanced Disease.
(AMER ASSOC CANCER RESEARCH, 2021-09-01)Loss of the retinoblastoma (RB) tumor suppressor protein is a critical step in reprogramming biological networks that drive cancer progression, although mechanistic insight has been largely limited to the impact of RB loss ... -
RB1 Heterogeneity in Advanced Metastatic Castration-Resistant Prostate Cancer.
(AMER ASSOC CANCER RESEARCH, 2019-01-15)PURPOSE: Metastatic castration-resistant prostate cancer (mCRPC) is a lethal but clinically heterogeneous disease, with patients having variable benefit from endocrine and cytotoxic treatments. Intrapatient genomic ... -
RE-ARMing the Immune Response to Bladder Cancer with Radiotherapy.
(ELSEVIER SCIENCE LONDON, 2022-07-01)
