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Determinants of anti-PD-1 response and resistance in clear cell renal cell carcinoma.
(CELL PRESS, 2021-11-08)
ADAPTeR is a prospective, phase II study of nivolumab (anti-PD-1) in 15 treatment-naive patients (115 multiregion tumor samples) with metastatic clear cell renal cell carcinoma (ccRCC) aiming to understand the mechanism ...
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), ...
Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes.
(NATURE PORTFOLIO, 2020-01-07)
Genome-wide association studies have identified breast cancer risk variants in over 150 genomic regions, but the mechanisms underlying risk remain largely unknown. These regions were explored by combining association ...
Assessment of polygenic architecture and risk prediction based on common variants across fourteen cancers.
(NATURE PORTFOLIO, 2020-07-03)
Genome-wide association studies (GWAS) have led to the identification of hundreds of susceptibility loci across cancers, but the impact of further studies remains uncertain. Here we analyse summary-level data from GWAS of ...
JMJD6 Is a Druggable Oxygenase That Regulates AR-V7 Expression in Prostate Cancer.
(AMER ASSOC CANCER RESEARCH, 2021-02-15)
Endocrine resistance (EnR) in advanced prostate cancer is fatal. EnR can be mediated by androgen receptor (AR) splice variants, with AR splice variant 7 (AR-V7) arguably the most clinically important variant. In this study, ...
Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes.
(ELSEVIER SCIENCE INC, 2021-07-06)
PURPOSE: Where multiple in silico tools are concordant, the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) framework affords supporting evidence toward pathogenicity or ...
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 ...
Evaluation of erectile potency and radiation dose to the penile bulb using image guided radiotherapy in the CHHiP trial.
(ELSEVIER IRELAND LTD, 2020-03-01)
BACKGROUND AND PURPOSE: The penile bulb (PB) dose may be critical in development of post prostate radiotherapy erectile dysfunction (ED). This study aimed to generate PB dose constraints based on dose-volume histograms ...
Selective protection of human cardiomyocytes from anthracycline cardiotoxicity by small molecule inhibitors of MAP4K4.
(NATURE PORTFOLIO, 2020-07-21)
Given the poor track record to date of animal models for creating cardioprotective drugs, human pluripotent stem cell-derived cardiomyocytes (hPSC-CMs) have been proposed as a therapeutically relevant human platform to ...
3D tumour spheroids for the prediction of the effects of radiation and hyperthermia treatments.
(NATURE PORTFOLIO, 2020-02-03)
For multimodality therapies such as the combination of hyperthermia and radiation, quantification of biological effects is key for dose prescription and response prediction. Tumour spheroids have a microenvironment that ...