Recent submissions
Now showing items 481-500 of 525
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Diffusion-weighted MRI for detecting prostate tumour in men at increased genetic risk.
(Elsevier BV, 2014-09-07)BACKGROUND: Diffusion-weighted (DW)-MRI is invaluable in detecting prostate cancer. We determined its sensitivity and specificity and established interobserver agreement for detecting tumour in men with a family history ... -
CanVar: A resource for sharing germline variation in cancer patients.
(F1000 Research Ltd, 2016-01-01)The advent of high-throughput sequencing has accelerated our ability to discover genes predisposing to disease and is transforming clinical genomic sequencing. In both contexts knowledge of the spectrum and frequency of ... -
A genome-wide association study identifies risk loci for childhood acute lymphoblastic leukemia at 10q26.13 and 12q23.1.
(NATURE PUBLISHING GROUP, 2017-03-01)Genome-wide association studies (GWASs) have shown that common genetic variation contributes to the heritable risk of childhood acute lymphoblastic leukemia (ALL). To identify new susceptibility loci for the largest subtype ... -
Genetic modifiers of CHEK2*1100delC-associated breast cancer risk.
(NATURE PUBLISHING GROUP, 2017-05-01)PURPOSE: CHEK2*1100delC is a founder variant in European populations that confers a two- to threefold increased risk of breast cancer (BC). Epidemiologic and family studies have suggested that the risk associated with ... -
Modeling the prevention of colorectal cancer from the combined impact of host and behavioral risk factors.
(NATURE PUBLISHING GROUP, 2017-03-01)PURPOSE: This study investigated the utility of modeling modifiable lifestyle risk factors in addition to genetic variation in colorectal cancer (CRC) screening/prevention. METHODS: We derived a polygenic risk score for ... -
Prostate cancer risk regions at 8q24 and 17q24 are differentially associated with somatic TMPRSS2:ERG fusion status.
(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 ... -
Polyunsaturated fatty acids and prostate cancer risk: a Mendelian randomisation analysis from the PRACTICAL consortium.
(SPRINGERNATURE, 2016-08-23)BACKGROUND: Prostate cancer is a common cancer worldwide with no established modifiable lifestyle factors to guide prevention. The associations between polyunsaturated fatty acids (PUFAs) and prostate cancer risk have been ... -
Fine-Mapping of the 1p11.2 Breast Cancer Susceptibility Locus.
(PUBLIC LIBRARY SCIENCE, 2016-08-24)The Cancer Genetic Markers of Susceptibility genome-wide association study (GWAS) originally identified a single nucleotide polymorphism (SNP) rs11249433 at 1p11.2 associated with breast cancer risk. To fine-map this locus, ... -
The PROFILE Feasibility Study: Targeted Screening of Men With a Family History of Prostate Cancer.
(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 ... -
Assessing the role of insulin-like growth factors and binding proteins in prostate cancer using Mendelian randomization: Genetic variants as instruments for circulating levels.
(WILEY, 2016-10-01)Circulating insulin-like growth factors (IGFs) and their binding proteins (IGFBPs) are associated with prostate cancer. Using genetic variants as instruments for IGF peptides, we investigated whether these associations are ... -
Prognostic value of automated KI67 scoring in breast cancer: a centralised evaluation of 8088 patients from 10 study groups.
(BIOMED CENTRAL LTD, 2016-10-18)BACKGROUND: The value of KI67 in breast cancer prognostication has been questioned due to concerns on the analytical validity of visual KI67 assessment and methodological limitations of published studies. Here, we investigate ... -
Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer.
(NATURE PORTFOLIO, 2016-04-27)Common variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (P<5 × 10(-8)) with oestrogen receptor (ER)-negative breast cancer and BRCA1-associated breast ... -
Genome-wide association of familial prostate cancer cases identifies evidence for a rare segregating haplotype at 8q24.21.
(SPRINGER, 2016-08-01)Previous genome-wide association studies (GWAS) of prostate cancer risk focused on cases unselected for family history and have reported over 100 significant associations. The International Consortium for Prostate Cancer ... -
Atlas of prostate cancer heritability in European and African-American men pinpoints tissue-specific regulation.
(NATURE PUBLISHING GROUP, 2016-04-07)Although genome-wide association studies have identified over 100 risk loci that explain ∼33% of familial risk for prostate cancer (PrCa), their functional effects on risk remain largely unknown. Here we use genotype data ... -
Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3.
(SPRINGER, 2017-01-01)PURPOSE: Cis-acting regulatory SNPs resulting in differential allelic expression (DAE) may, in part, explain the underlying phenotypic variation associated with many complex diseases. To investigate whether common variants ... -
Association between Adult Height and Risk of Colorectal, Lung, and Prostate Cancer: Results from Meta-analyses of Prospective Studies and Mendelian Randomization Analyses.
(PUBLIC LIBRARY SCIENCE, 2016-09-06)BACKGROUND: Observational studies examining associations between adult height and risk of colorectal, prostate, and lung cancers have generated mixed results. We conducted meta-analyses using data from prospective cohort ... -
Validation of Recently Proposed Colorectal Cancer Susceptibility Gene Variants in an Analysis of Families and Patients-a Systematic Review.
(W B SAUNDERS CO-ELSEVIER INC, 2017-01-01)High-throughput sequencing analysis has accelerated searches for genes associated with risk for colorectal cancer (CRC); germline mutations in NTHL1, RPS20, FANCM, FAN1, TP53, BUB1, BUB3, LRP6, and PTPN12 have been recently ... -
Association of breast cancer risk with genetic variants showing differential allelic expression: Identification of a novel breast cancer susceptibility locus at 4q21.
(IMPACT JOURNALS LLC, 2016-12-06)There are significant inter-individual differences in the levels of gene expression. Through modulation of gene expression, cis-acting variants represent an important source of phenotypic variation. Consequently, cis-regulatory ... -
rs2735383, located at a microRNA binding site in the 3'UTR of NBS1, is not associated with breast cancer risk.
(NATURE PORTFOLIO, 2016-11-15)NBS1, also known as NBN, plays an important role in maintaining genomic stability. Interestingly, rs2735383 G > C, located in a microRNA binding site in the 3'-untranslated region (UTR) of NBS1, was shown to be associated ... -
REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants.
(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 ...