Browsing Radiotherapy and Imaging by author "Kote-Jarai, Zsofia"
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Post hoc Analysis for Detecting Individual Rare Variant Risk Associations Using Probit Regression Bayesian Variable Selection Methods in Case-Control Sequencing Studies.
Larson, NB; McDonnell, S; Albright, LC; Teerlink, C; Stanford, J; et al. (WILEY, 2016-09-01)Rare variants (RVs) have been shown to be significant contributors to complex disease risk. By definition, these variants have very low minor allele frequencies and traditional single-marker methods for statistical analysis ... -
Prostate Cancer Germline Variations and Implications for Screening and Treatment.
Dias, A; Kote-Jarai, Z; Mikropoulos, C; Eeles, R (COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT, 2018-09-04)Prostate cancer (PCa) is a highly heritable disease, and rapid evolution of sequencing technologies has enabled marked progression of our understanding of its genetic inheritance. A complex polygenic model that involves ... -
Prostate cancer risk in men of differing genetic ancestry and approaches to disease screening and management in these groups.
McHugh, J; Saunders, EJ; Dadaev, T; McGrowder, E; Bancroft, E; et al. (SPRINGERNATURE, 2022-06-01)Prostate cancer is the second most common solid tumour in men worldwide and it is also the most common cancer affecting men of African descent. Prostate cancer incidence and mortality vary across regions and populations. ... -
Prostate cancer risk regions at 8q24 and 17q24 are differentially associated with somatic TMPRSS2:ERG fusion status.
Luedeke, M; Rinckleb, AE; FitzGerald, LM; Geybels, MS; Schleutker, J; et al. (OXFORD UNIV PRESS, 2016-12-15)Molecular and epidemiological differences have been described between TMPRSS2:ERG fusion-positive and fusion-negative prostate cancer (PrCa). Assuming two molecularly distinct subtypes, we have examined 27 common PrCa risk ... -
Prostate cancer risk stratification improvement across multiple ancestries with new polygenic hazard score.
Huynh-Le, M-P; Karunamuni, R; Fan, CC; Asona, L; Thompson, WK; et al. (SPRINGERNATURE, 2022-02-12)BACKGROUND: Prostate cancer risk stratification using single-nucleotide polymorphisms (SNPs) demonstrates considerable promise in men of European, Asian, and African genetic ancestries, but there is still need for increased ... -
Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition.
Mikropoulos, C; Hutten Selkirk, CG; Saya, S; Bancroft, E; Vertosick, E; et al. (NATURE PUBLISHING GROUP, 2018-03-20)This corrects the article DOI: 10.1038/bjc.2017.429. -
Pubertal development and prostate cancer risk: Mendelian randomization study in a population-based cohort.
Bonilla, C; Lewis, SJ; Martin, RM; Donovan, JL; Hamdy, FC; et al. (BMC, 2016-04-04)BACKGROUND: Epidemiological studies have observed a positive association between an earlier age at sexual development and prostate cancer, but markers of sexual maturation in boys are imprecise and observational estimates ... -
Rare Germline Variants in ATM Predispose to Prostate Cancer: A PRACTICAL Consortium Study.
Karlsson, Q; Brook, MN; Dadaev, T; Wakerell, S; Saunders, EJ; et al. (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.
Mijuskovic, M; Saunders, EJ; Leongamornlert, DA; Wakerell, S; Whitmore, I; et al. (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 ... -
Relationship of self-reported body size and shape with risk for prostate cancer: A UK case-control study.
Aladwani, M; Lophatananon, A; Robinson, F; Rahman, A; Ollier, W; et al. (PUBLIC LIBRARY SCIENCE, 2020-09-17)INTRODUCTION: Previous evidence has suggested a relationship between male self-reported body size and the risk of developing prostate cancer. In this UK-wide case-control study, we have explored the possible association ... -
REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants.
Ioannidis, NM; Rothstein, JH; Pejaver, V; Middha, S; McDonnell, SK; et al. (CELL PRESS, 2016-10-06)The vast majority of coding variants are rare, and assessment of the contribution of rare variants to complex traits is hampered by low statistical power and limited functional data. Improved methods for predicting the ... -
Runs of homozygosity and testicular cancer risk.
Loveday, C; Sud, A; Litchfield, K; Levy, M; Holroyd, A; et al. (WILEY, 2019-07-01)BACKGROUND: Testicular germ cell tumour (TGCT) is highly heritable but > 50% of the genetic risk remains unexplained. Epidemiological observation of greater relative risk to brothers of men with TGCT compared to sons has ... -
Sequencing of prostate cancers identifies new cancer genes, routes of progression and drug targets.
Wedge, DC; Gundem, G; Mitchell, T; Woodcock, DJ; Martincorena, I; et al. (NATURE PUBLISHING GROUP, 2018-05-01)Prostate cancer represents a substantial clinical challenge because it is difficult to predict outcome and advanced disease is often fatal. We sequenced the whole genomes of 112 primary and metastatic prostate cancer ... -
Shared heritability and functional enrichment across six solid cancers.
Jiang, X; Finucane, HK; Schumacher, FR; Schmit, SL; Tyrer, JP; et al. (NATURE PORTFOLIO, 2019-01-25)Quantifying the genetic correlation between cancers can provide important insights into the mechanisms driving cancer etiology. Using genome-wide association study summary statistics across six cancer types based on a total ... -
SNP interaction pattern identifier (SIPI): an intensive search for SNP-SNP interaction patterns.
Lin, H-Y; Chen, D-T; Huang, P-Y; Liu, Y-H; Ochoa, A; et al. (OXFORD UNIV PRESS, 2017-03-15)MOTIVATION: Testing SNP-SNP interactions is considered as a key for overcoming bottlenecks of genetic association studies. However, related statistical methods for testing SNP-SNP interactions are underdeveloped. RESULTS: ... -
Targeted prostate cancer screening in BRCA1 and BRCA2 mutation carriers: results from the initial screening round of the IMPACT study.
Bancroft, EK; Page, EC; Castro, E; Lilja, H; Vickers, A; et al. (ELSEVIER, 2014-09-01)BACKGROUND: Men with germline breast cancer 1, early onset (BRCA1) or breast cancer 2, early onset (BRCA2) gene mutations have a higher risk of developing prostate cancer (PCa) than noncarriers. IMPACT (Identification of ... -
Telomere structure and maintenance gene variants and risk of five cancer types.
Karami, S; Han, Y; Pande, M; Cheng, I; Rudd, J; et al. (WILEY, 2016-12-15)Telomeres cap chromosome ends, protecting them from degradation, double-strand breaks, and end-to-end fusions. Telomeres are maintained by telomerase, a reverse transcriptase encoded by TERT, and an RNA template encoded ... -
The BARCODE1 Pilot: a feasibility study of using germline single nucleotide polymorphisms to target prostate cancer screening.
Benafif, S; Ni Raghallaigh, H; McGrowder, E; Saunders, EJ; Brook, MN; et al. (WILEY, 2021-07-02)OBJECTIVES: To assess the feasibility and uptake of a community-based prostate cancer (PCa) screening programme selecting men according to their genetic risk of PCa. To assess the uptake of PCa screening investigations by ... -
The CHEK2 Variant C.349A>G Is Associated with Prostate Cancer Risk and Carriers Share a Common Ancestor.
Brandão, A; Paulo, P; Maia, S; Pinheiro, M; Peixoto, A; et al. (MDPI, 2020-11-04)The identification of recurrent founder variants in cancer predisposing genes may have important implications for implementing cost-effective targeted genetic screening strategies. In this study, we evaluated the prevalence ... -
The effect of sample size on polygenic hazard models for prostate cancer.
Karunamuni, RA; Huynh-Le, M-P; Fan, CC; Eeles, RA; Easton, DF; et al. (SPRINGERNATURE, 2020-10-01)We determined the effect of sample size on performance of polygenic hazard score (PHS) models in prostate cancer. Age and genotypes were obtained for 40,861 men from the PRACTICAL consortium. The dataset included 201,590 ...