Browsing Genetics and Epidemiology by author "Kote-Jarai, Zsofia"
Now showing items 81-99 of 99
-
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 ... -
Serum testosterone and prostate cancer in men with germline BRCA1/2 pathogenic variants.
Dias, A; Brook, MN; Bancroft, EK; Page, EC; Chamberlain, A; et al. (WILEY, 2023-05-01)OBJECTIVES: The relation of serum androgens and the development of prostate cancer (PCa) is subject of debate. Lower total testosterone (TT) levels have been associated with increased PCa detection and worse pathological ... -
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 ... -
The OncoArray Consortium: A Network for Understanding the Genetic Architecture of Common Cancers.
Amos, CI; Dennis, J; Wang, Z; Byun, J; Schumacher, FR; et al. (AMER ASSOC CANCER RESEARCH, 2017-01-01)BACKGROUND: Common cancers develop through a multistep process often including inherited susceptibility. Collaboration among multiple institutions, and funding from multiple sources, has allowed the development of an ... -
The PROFILE Feasibility Study: Targeted Screening of Men With a Family History of Prostate Cancer.
Castro, E; Mikropoulos, C; Bancroft, EK; Dadaev, T; Goh, C; et al. (WILEY, 2016-06-01)BACKGROUND: A better assessment of individualized prostate cancer (PrCa) risk is needed to improve screening. The use of the prostate-specific antigen (PSA) level for screening in the general population has limitations and ... -
Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction.
Conti, DV; Darst, BF; Moss, LC; Saunders, EJ; Sheng, X; et al. (NATURE PORTFOLIO, 2021-01-04)Prostate cancer is a highly heritable disease with large disparities in incidence rates across ancestry populations. We conducted a multiancestry meta-analysis of prostate cancer genome-wide association studies (107,247 ... -
Two-stage Study of Familial Prostate Cancer by Whole-exome Sequencing and Custom Capture Identifies 10 Novel Genes Associated with the Risk of Prostate Cancer.
Schaid, DJ; McDonnell, SK; FitzGerald, LM; DeRycke, L; Fogarty, Z; et al. (ELSEVIER, 2020-08-13)BACKGROUND: Family history of prostate cancer (PCa) is a well-known risk factor, and both common and rare genetic variants are associated with the disease. OBJECTIVE: To detect new genetic variants associated with PCa, ... -
Use of a Novel Nonparametric Version of DEPTH to Identify Genomic Regions Associated with Prostate Cancer Risk.
MacInnis, RJ; Schmidt, DF; Makalic, E; Severi, G; FitzGerald, LM; et al. (AMER ASSOC CANCER RESEARCH, 2016-12-01)BACKGROUND: We have developed a genome-wide association study analysis method called DEPTH (DEPendency of association on the number of Top Hits) to identify genomic regions potentially associated with disease by considering ... -
Validation of loci at 2q14.2 and 15q21.3 as risk factors for testicular cancer.
Loveday, C; Litchfield, K; Levy, M; Holroyd, A; Broderick, P; et al. (Impact Journals, LLC, 2018-02-27)Testicular germ cell tumor (TGCT), the most common cancer in men aged 18 to 45 years, has a strong heritable basis. Genome-wide association studies (GWAS) have proposed single nucleotide polymorphisms (SNPs) at a number ...