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Performance of African-ancestry-specific polygenic hazard score varies according to local ancestry in 8q24.
(SPRINGERNATURE, 2021-06-14)
BACKGROUND: We previously developed an African-ancestry-specific polygenic hazard score (PHS46+African) that substantially improved prostate cancer risk stratification in men with African ancestry. The model consists of ...
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 ...
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 ...
Descriptive analysis of MRI functional changes occurring during reduced dose radiotherapy for myxoid liposarcomas.
(OXFORD UNIV PRESS, 2021-10-01)
OBJECTIVES: Myxoid liposarcomas (MLS) show enhanced response to radiotherapy due to their distinctive vascular pattern and therefore could be effectively treated with lower radiation doses. This is a descriptive study to ...
Whole-body diffusion-weighted MRI in lymphoma-comparison of global apparent diffusion coefficient histogram parameters for differentiation of diseased nodes of lymphoma patients from normal lymph nodes of healthy individuals.
(AME PUBLISHING COMPANY, 2021-08-01)
BACKGROUND: Morphologic features yield low diagnostic accuracy to distinguish between diseased and normal lymph nodes. The purpose of this study was to compare diseased lymphomatous and normal lymph nodes using global ...