Browsing Radiotherapy and Imaging by author "Eeles, Rosalind"
Now showing items 121-140 of 148
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Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia.
Spurdle, AB; Couch, FJ; Parsons, MT; McGuffog, L; Barrowdale, D; et al. (BMC, 2014-12-23)INTRODUCTION: The distribution of histopathological features of invasive breast tumors in BRCA1 or BRCA2 germline mutation carriers differs from that of individuals with no known mutation. Histopathological features thus ... -
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 ... -
Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers.
Mavaddat, N; Antoniou, AC; Mooij, TM; Hooning, MJ; Heemskerk-Gerritsen, BA; et al. (BMC, 2020-01-16)BACKGROUND: The effect of risk-reducing salpingo-oophorectomy (RRSO) on breast cancer risk for BRCA1 and BRCA2 mutation carriers is uncertain. Retrospective analyses have suggested a protective effect but may be substantially ... -
Risks of breast or ovarian cancer in BRCA1 or BRCA2 predictive test negatives: findings from the EMBRACE study.
Girardi, F; Barnes, DR; Barrowdale, D; Frost, D; Brady, AF; et al. (NATURE PUBLISHING GROUP, 2018-12-01)PURPOSE: BRCA1/BRCA2 predictive test negatives are proven noncarriers of a BRCA1/BRCA2 mutation that is carried by their relatives. The risk of developing breast cancer (BC) or epithelial ovarian cancer (EOC) in these women ... -
Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers.
Kuchenbaecker, KB; Hopper, JL; Barnes, DR; Phillips, K-A; Mooij, TM; et al. (AMER MEDICAL ASSOC, 2017-06-20)IMPORTANCE: The clinical management of BRCA1 and BRCA2 mutation carriers requires accurate, prospective cancer risk estimates. OBJECTIVES: To estimate age-specific risks of breast, ovarian, and contralateral breast cancer ... -
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 ... -
seXY: a tool for sex inference from genotype arrays.
Qian, DC; Busam, JA; Xiao, X; O'Mara, TA; Eeles, RA; et al. (OXFORD UNIV PRESS, 2017-02-15)MOTIVATION: Checking concordance between reported sex and genotype-inferred sex is a crucial quality control measure in genome-wide association studies (GWAS). However, limited insights exist regarding the true accuracy ... -
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 predictive ability of the 313 variant-based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant.
Lakeman, IMM; van den Broek, AJ; Vos, JAM; Barnes, DR; Adlard, J; et al. (ELSEVIER SCIENCE INC, 2021-06-10)PURPOSE: To evaluate the association between a previously published 313 variant-based breast cancer (BC) polygenic risk score (PRS313) and contralateral breast cancer (CBC) risk, in BRCA1 and BRCA2 pathogenic variant ... -
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 Novel Susceptibility Loci for Prostate Cancer in Men of African Ancestry.
Conti, DV; Wang, K; Sheng, X; Bensen, JT; Hazelett, DJ; et al. (OXFORD UNIV PRESS INC, 2017-08-01)Prostate cancer incidence is 1.6-fold higher in African Americans than in other populations. The risk factors that drive this disparity are unknown and potentially consist of social, environmental, and genetic influences. ...