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Sökning: WFRF:(Heitz F)

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1.
  • Adolph, C., et al. (författare)
  • Leading-order determination of the gluon polarisation from semi-inclusive deep inelastic scattering data
  • 2017
  • Ingår i: European Physical Journal C. - : SPRINGER. - 1434-6044 .- 1434-6052. ; 77:4
  • Tidskriftsartikel (refereegranskat)abstract
    • Using a novel analysis technique, the gluon polarisation in the nucleon is re-evaluated using the longitudinal double-spin asymmetry measured in the cross section of semi-inclusive single-hadron muoproduction with photon virtuality Q(2) > 1 ( GeV/c)(2). The data were obtained by the COMPASS experiment at CERN using a 160 GeV/c polarised muon beam impinging on a polarised (LiD)-Li-6 target. By analysing the full range in hadron transverse momentum p(T), the different pT-dependences of the underlying processes are separated using a neural-network approach. In the absence of pQCD calculations at next-to-leading order in the selected kinematic domain, the gluon polarisation Delta g/g is evaluated at leading order in pQCD at a hard scale of mu(2) = < Q(2) > = 3( GeV/c)(2). It is determined in three intervals of the nucleon momentum fraction carried by gluons, x(g), covering the range 0.04< x(g)< 0.28 and does not exhibit a significant dependence on xg. The average over the three intervals, < Delta g/g > = 0.113 +/- 0.038(stat) +/- 0.036( syst) at < x(g) > approximate to 0.10, suggests that the gluon polarisation is positive in the measured x(g) range.
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2.
  • Adolphi, C., et al. (författare)
  • Exclusive omega meson muoproduction on transversely polarised protons
  • 2017
  • Ingår i: Nuclear Physics B. - : ELSEVIER SCIENCE BV. - 0550-3213 .- 1873-1562. ; 915, s. 454-475
  • Tidskriftsartikel (refereegranskat)abstract
    • Exclusive production of omega mesons was studied at the COMPASS experiment by scattering 160GeV/c muons off transversely polarised protons. Five single-spin and three double-spin azimuthal asymmetries were measured in the range of photon virtuality 1(GeV/c)(2) < Q(2) < 10(GeV/c)(2), Bjorken scaling variable 0.003 < xBj < 0.3 and transverse momentum squared of the omega meson 0.05(GeV/c)(2) < p(T)(2) < 0.5(GeV/c)(2). The measured asymmetries are sensitive to the nucleon helicity-flip Generalised Parton Distributions (GPD) Et hat are related to the orbital angular momentum of quarks, the chiral-odd GPDs H-T that are related to the transversity Parton Distribution Functions, and the sign of the pi omega transition form factor. The results are compared to recent calculations of a GPD-based model.
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3.
  • Adolph, C., et al. (författare)
  • Multiplicities of charged kaons from deep-inelastic muon scattering off an isoscalar target
  • 2017
  • Ingår i: Physics Letters B. - : ELSEVIER SCIENCE BV. - 0370-2693 .- 1873-2445. ; 767, s. 133-141
  • Tidskriftsartikel (refereegranskat)abstract
    • Precise measurements of charged-kaon multiplicities in deep inelastic scattering were performed. The results are presented in three-dimensional bins of the Bjorken scaling variable x, the relative virtual-photon energy y, and the fraction z of the virtual-photon energy carried by the produced hadron. The data were obtained by the COMPASS Collaboration by scattering 160 GeV muons off an isoscalar (LiD)-Li-6 target. They cover the kinematic domain 1 (GeV/c)(2) < Q(2) < 60 (GeV/c)(2) in the photon virtuality, 0.004 < x < 0.4, 0.1 < y < 0.7, 0.20 < z < 0.85, and W > 5 GeV/c(2) in the invariant mass of the hadronic system. The results from the sum of the z-integrated K+ and K- multiplicities at high x point to a value of the non-strange quark fragmentation function larger than obtained by the earlier DSS fit.
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4.
  • Adolph, C., et al. (författare)
  • Multiplicities of charged pions and charged hadrons from deep-inelastic scattering of muons off an isoscalar target
  • 2017
  • Ingår i: Physics Letters B. - : ELSEVIER SCIENCE BV. - 0370-2693 .- 1873-2445. ; 764, s. 1-10
  • Tidskriftsartikel (refereegranskat)abstract
    • Multiplicities of charged pions and charged hadrons produced in deep-inelastic scattering were measured in three-dimensional bins of the Bjorken scaling variable x, the relative virtual-photon energy y and the relative hadron energy z. Data were obtained by the COMPASS Collaboration using a 160 GeV muon beam and an isoscalar target ((LiD)-Li-6). They cover the kinematic domain in the photon virtuality Q(2) > 1 (GeV/c) 2, 0.004 < x < 0.4, 0.2 < z < 0.85 and 0.1 < y < 0.7. In addition, a leading-order pQCD analysis was performed using the pion multiplicity results to extract quark fragmentation functions.
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5.
  • Adolph, C., et al. (författare)
  • Azimuthal asymmetries of charged hadrons produced in high-energy muon scattering off longitudinally polarised deuterons
  • 2018
  • Ingår i: European Physical Journal C. - : SPRINGER. - 1434-6044 .- 1434-6052. ; 78:11
  • Tidskriftsartikel (refereegranskat)abstract
    • Single hadron azimuthal asymmetries of positive and negative hadrons produced in muon semi-inclusive deep inelastic scattering off longitudinally polarised deuterons are determined using the 2006 COMPASS data and also combined all deuteron COMPASS data. For each hadron charge, the dependence of the azimuthal asymmetry on the hadron azimuthal angle f is obtained by means of a fiveparameter fitting function that besides a f-independent term includes four modulations predicted by theory: sin f, sin 2f, sin 3f and cos f. The amplitudes of the five terms have been extracted, first, for the hadrons in the whole available kinematic region. In further fits, performed for hadrons from a restricted kinematic region, the f-dependence is determined as a function of one of three variables (Bjorken-x, fractional energy of virtual photon taken by the outgoing hadron and hadron transverse momentum), while disregarding the others. Except thef-independent term, all themodulation amplitudes are very small, and no clear kinematic dependence could be observed within experimental uncertainties.
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6.
  • Adolph, C., et al. (författare)
  • First measurement of the Sivers asymmetry for gluons using SIDIS data
  • 2017
  • Ingår i: Physics Letters B. - : Elsevier BV. - 0370-2693 .- 1873-2445. ; 772, s. 854-864
  • Tidskriftsartikel (refereegranskat)abstract
    • The Sivers function describes the correlation between the transverse spin of a nucleon and the transverse motion of its partons. For quarks, it was studied in previous measurements of the azimuthal asymmetry of hadrons produced in semi-inclusive deep inelastic scattering of leptons off transversely polarised nucleon targets, and it was found to be non-zero. In this letter the evaluation of the Sivers asymmetry for gluons is presented. The contribution of the photon-gluon fusion subprocess is enhanced by requiring two high transverse-momentum hadrons. The analysis method is based on a Monte Carlo simulation that includes three hard processes: photon-gluon fusion, QCD Compton scattering and the leading-order virtual-photon absorption process. The Sivers asymmetries of the three processes are simultaneously extracted using the LEPTO event generator and a neural network approach. The method is applied to samples of events containing at least two hadrons with large transverse momentum from the COMPASS data taken with a 160 GeV/c muon beam scattered off transversely polarised deuterons and protons. With a significance of about two standard deviations, a negative value is obtained for the gluon Sivers asymmetry. The result of a similar analysis for a Collins-like asymmetry for gluons is consistent with zero. (C) 2017 The Author(s). Published by Elsevier B.V.
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7.
  • Adolph, C., et al. (författare)
  • Sivers asymmetry extracted in SIDIS at the hard scales of the Drell-Yan process at COMPASS
  • 2017
  • Ingår i: Physics Letters B. - : Elsevier BV. - 0370-2693 .- 1873-2445. ; 770, s. 138-145
  • Tidskriftsartikel (refereegranskat)abstract
    • Eight proton transverse-spin-dependent azimuthal asymmetries are extracted in four regions of the photon virtuality Q(2) from the COMPASS 2010 semi-inclusive hadron measurements in deep inelastic muon nucleon scattering. These Q(2) regions correspond to the four regions of the di-muon mass root Q(2) used in the ongoing analyses of the COMPASS Drell-Yan measurements, which allows for a future direct comparison of the nucleon transverse-momentum-dependent parton distribution functions extracted from these two alternative measurements. In addition, for the azimuthal asymmetries induced by the Sivers transverse-momentum-dependent parton distribution function various two-dimensional kinematic dependences are presented. The integrated Sivers asymmetries are found to be positive with an accutacy that appears to be sufficient to test the sign change of the Sivers function predicted by Quantum Chromodynamics.
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8.
  • Jiang, X., et al. (författare)
  • Shared heritability and functional enrichment across six solid cancers
  • 2019
  • Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10
  • Tidskriftsartikel (refereegranskat)abstract
    • 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 of 296,215 cases and 301,319 controls of European ancestry, here we estimate the pair-wise genetic correlations between breast, colorectal, head/neck, lung, ovary and prostate cancer, and between cancers and 38 other diseases. We observed statistically significant genetic correlations between lung and head/neck cancer (r(g) = 0.57, p = 4.6 x 10(-8)), breast and ovarian cancer (r(g) = 0.24, p = 7 x 10(-5)), breast and lung cancer (r(g) = 0.18, p = 1.5 x 10(-6)) and breast and colorectal cancer (r(g) = 0.15, p = 1.1 x 10(-4)). We also found that multiple cancers are genetically correlated with non-cancer traits including smoking, psychiatric diseases and metabolic characteristics. Functional enrichment analysis revealed a significant excess contribution of conserved and regulatory regions to cancer heritability. Our comprehensive analysis of cross-cancer heritability suggests that solid tumors arising across tissues share in part a common germline genetic basis.
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9.
  • Adolph, C., et al. (författare)
  • Final COMPASS results on the deuteron spin-dependent structure function g(1)(d) and the Bjorken sum rule
  • 2017
  • Ingår i: Physics Letters B. - : Elsevier BV. - 0370-2693 .- 1873-2445. ; 769, s. 34-41
  • Tidskriftsartikel (refereegranskat)abstract
    • Final results are presented from the inclusive measurement of deep-inelastic polarised-muon scattering on longitudinally polarised deuterons using a 6LiD target. The data were taken at 160 GeV beam energy and the results are shown for the kinematic range 1 (GeV/c)2 < Q2 < 100 (GeV/c)2 in photon virtuality, 0.004 < x < 0.7 in the Bjorken scaling variable and W > 4GeV/c2 in the mass of the hadronic final state. The deuteron double-spin asymmetry A(1)(d) and the deuteron longitudinal-spin structure function g(1)(d) are presented in bins of x and Q2. Towards lowest accessible values of x, g(1)(d) decreases and becomes consistent with zero within uncertainties. The presented final g(1)(p) values together with the recently published final g(1)(p) values of COMPASS are used to again evaluate the Bjorken sum rule and perform the QCD fit to the g1 world data at next-to-leading order of the strong coupling constant. In both cases, changes in central values of the resulting numbers are well within statistical uncertainties. The flavour singlet axial charge a0, which is identified in the MS renormalisation scheme with the total contribution of quark helicities to the nucleon spin, is extracted at next-to-leading order accuracy from only the COMPASS deuteron data: a0(Q2 = 3 (GeV/c)2) = 0.32 +/- 0.02stat +/- 0.04syst +/- 0.05evol. Together with the recent results on the proton spin structure function g(1)(p), the results on g(1)(d) constitute the COMPASS legacy on the measurements of g1 through inclusive spin-dependent deep inelastic scattering.
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10.
  • Aghasyan, M., et al. (författare)
  • First Measurement of Transverse-Spin-Dependent Azimuthal Asymmetries in the Drell-Yan Process
  • 2017
  • Ingår i: Physical Review Letters. - 0031-9007 .- 1079-7114. ; 119:11
  • Tidskriftsartikel (refereegranskat)abstract
    • The first measurement of transverse-spin-dependent azimuthal asymmetries in the pion-induced Drell-Yan (DY) process is reported. We use the CERN SPS 190 GeV/c pi(-) beam and a transversely polarized ammonia target. Three azimuthal asymmetries giving access to different transverse-momentum-dependent (TMD) parton distribution functions (PDFs) are extracted using dimuon events with invariant mass between 4.3 GeV/c(2) and 8.5 GeV/c(2). Within the experimental uncertainties, the observed sign of the Sivers asymmetry is found to be consistent with the fundamental prediction of quantum chromodynamics (QCD) that the Sivers TMD PDFs extracted from DY have a sign opposite to the one extracted from semi-inclusive deep-inelastic scattering (SIDIS) data. We present two other asymmetries originating from the pion Boer-Mulders TMD PDFs convoluted with either the nucleon transversity or pretzelosity TMD PDFs. A recent COMPASS SIDIS measurement was obtained at a hard scale comparable to that of these DY results. This opens the way for possible tests of fundamental QCD universality predictions.
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11.
  • Aghasyan, M., et al. (författare)
  • Longitudinal double-spin asymmetry A(1)(p) and spin-dependent structure function g(1)(p) of the proton at small values of x and Q(2)
  • 2018
  • Ingår i: Physics Letters B. - : ELSEVIER SCIENCE BV. - 0370-2693 .- 1873-2445. ; 781, s. 464-472
  • Tidskriftsartikel (refereegranskat)abstract
    • We present a precise measurement of the proton longitudinal double-spin asymmetry A(1)(p) and the proton spin-dependent structure function g(1)(P) at photon virtualities 0.006 (GeV/c)(2) < Q(2) < 1 (GeV/c)(2) in the Bjorken x range of 4 x 10(-5) < x < 4 x 10(-2). The results are based on data collected by the COMPASS Collaboration at CERN using muon beam energies of 160 GeV and 200 GeV. The statistical precision is more than tenfold better than that of the previous measurement in this region. In the whole range of x, the measured values of A(1)(p) and g(1)(P) are found to be positive. It is for the first time that spin effects are found at such low values of x.
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12.
  • Aghasyan, M., et al. (författare)
  • Search for muoproduction of X(3872) at COMPASS and indication of a new state (X)over-tilde(3872)
  • 2018
  • Ingår i: Physics Letters B. - : ELSEVIER SCIENCE BV. - 0370-2693 .- 1873-2445. ; 783, s. 334-340
  • Tidskriftsartikel (refereegranskat)abstract
    • We have searched for exclusive production of exotic charmonia in the reaction mu N+ -> mu(+)(J/psi pi(+)pi(-))pi N-+/-' using COMPASS data collected with incoming muons of 160 GeV/c and 200 GeV/c momentum. In the J/psi pi(vertical bar)pi mass distribution we observe a signal with a statistical significance of 4.1 sigma. Its mass and width are consistent with those of the X(3872). The shape of the pi(+)pi(-) mass distribution from the observed decay into J/psi pi(+)pi(-) shows disagreement with previous observations for X(3872). The observed signal may be interpreted as a possible evidence of a new charmonium state. It could be associated with a neutral partner of X(3872) with C=-1 predicted by a tetraquark model. The product of cross section and branching fraction of the decay of the observed state into J/psi pi(+)pi(-) is determined to be 71 +/- 28(stat)+/- 39(syst) pb.
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13.
  • Aghasyan, M., et al. (författare)
  • Transverse-momentum-dependent multiplicities of charged hadrons in muon-deuteron deep inelastic scattering
  • 2018
  • Ingår i: Physical Review D. - : AMER PHYSICAL SOC. - 2470-0010 .- 2470-0029. ; 97:3
  • Tidskriftsartikel (refereegranskat)abstract
    • A semi-inclusive measurement of charged hadron multiplicities in deep inelastic muon scattering off an isoscalar target was performed using data collected by the COMPASS Collaboration at CERN. The following kinematic domain is covered by the data: photon virtuality Q(2) > 1 (GeV/c)(2), invariant mass of the hadronic system W > 5 (GeV/c)(2), Bjorken scaling variable in the range 0.003 < x < 0.4, fraction of the virtual photon energy carried by the hadron in the range 0.2 < z < 0.8, and square of the hadron transverse momentum with respect to the virtual photon direction in the range 0.02 (GeV/c)(2) < P-hT(2) < 3 (GeV/c)(2). The multiplicities are presented as a function of P-hT(2) in three-dimensional bins of x, Q(2), z and compared to previous semi-inclusive measurements. We explore the small-P-hT(2) region, i.e. P-hT(2) < 1 (GeV/c)(2), where hadron transverse momenta are expected to arise from nonperturbative effects, and also the domain of larger P-hT(2), where contributions from higher-order perturbative QCD are expected to dominate. The multiplicities are fitted using a single-exponential function at small P-hT(2) to study the dependence of the average transverse momentum < P-hT(2)> on x, Q(2) and z. The power-law behavior of the multiplicities at large P-hT(2) is investigated using various functional forms. The fits describe the data reasonably well over the full measured range.
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14.
  • Jackura, A., et al. (författare)
  • New analysis of eta pi tensor resonances measured at the COMPASS experiment
  • 2018
  • Ingår i: Physics Letters B. - : Elsevier BV. - 0370-2693 .- 1873-2445. ; 779, s. 464-472
  • Tidskriftsartikel (refereegranskat)abstract
    • We present a new amplitude analysis of the eta pi D-wave in the reaction pi(-) p -> eta pi(-) p measured by COMPASS. Employing an analytical model based on the principles of the relativistic S-matrix, we find two resonances that can be identified with the a(2)(1320) and the excited a(2)(1700), and perform a comprehensive analysis of their pole positions. For the mass and width of the a(2) we find M = (1307 +/- 1 6) MeV and Gamma=(112 +/- 1 +/- 8) MeV, and for the excited state a(2)' we obtain M = (1720 +/- 10 +/- 60) MeV and Gamma = (280 +/- 10 +/- 70) MeV, respectively.
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15.
  • Aghasyan, M., et al. (författare)
  • Light isovector resonances in pi(-) p -> pi(-) pi(-) pi(+)p at 190 GeV/c
  • 2018
  • Ingår i: Physical Review D. - : AMER PHYSICAL SOC. - 2470-0010 .- 2470-0029. ; 98:9
  • Tidskriftsartikel (refereegranskat)abstract
    • We have performed the most comprehensive resonance-model fit of pi(-)pi(-)pi(+) states using the results of our previously published partial-wave analysis (PWA) of a large data set of diffractive-dissociation events from the reaction pi(-) + p -> pi(-)pi(-)pi(+) +p(recoil) with a 190 GeV/c pion beam. The PWA results, which were obtained in 100 bins of three-pion mass, 0.5 < m(3 pi) < 2.5 GeV/c(2), and simultaneously in 11 bins of the reduced four-momentum transfer squared, 0.1 < t'< 1.0 (GeV/c)(2), are subjected to a resonance-model fit using Breit-Wigner amplitudes to simultaneously describe a subset of 14 selected waves using 11 isovector light-meson states with J(PC) = 0(-+), 1(++), 2(++), 2(-+), 4(++), and spin-exotic 1(-+) quantum numbers. The model contains the well-known resonances pi(1800), a(1)(1260), a(2)(1320), pi(2)(1670), pi(2)(1880), and a(4) (2040). In addition, it includes the disputed pi(1)(1600), the excited states a(1)(1640), a2(1700), and pi(2) (2005), as well as the resonancelike a(1)(1420). We measure the resonance parameters mass and width of these objects by combining the information from the PWA results obtained in the 11 t' bins. We extract the relative branching fractions of the rho(770)pi and f(2)(1270)pi decays of a(2)(1320) and a(4)(2040), where the former one is measured for the first time. In a novel approach, we extract the t' dependence of the intensity of the resonances and of their phases. The t' dependence of the intensities of most resonances differs distinctly from the t' dependence of the nonresonant components. For the first time, we determine the t' dependence of the phases of the production amplitudes and confirm that the production mechanism of the Pomeron exchange is common to all resonances. We have performed extensive systematic studies on the model dependence and correlations of the measured physical parameters.
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16.
  • Akhunzyanov, R., et al. (författare)
  • Transverse extension of partons in the proton probed in the sea-quark range by measuring the DVCS cross section
  • 2019
  • Ingår i: Physics Letters B. - : ELSEVIER SCIENCE BV. - 0370-2693 .- 1873-2445. ; 793, s. 188-194
  • Tidskriftsartikel (refereegranskat)abstract
    • We report on the first measurement of exclusive single-photon muoproduction on the proton by COMPASS using 160 GeV/c polarised mu(+) and mu(-) beams of the CERN SPS impinging on a liquid hydrogen target. We determine the dependence of the average of the measured mu(+) and mu(-) cross sections for deeply virtual Compton scattering on the squared four-momentum transfer t from the initial to the final proton. The slope B of the t-dependence is fitted with a single exponential function, which yields B = (4.3 +/- 0.6(stat) (+0.1)(-0.3)vertical bar(sys)) (GeV/c)(-2). This result can be converted into a transverse extension of partons in the proton,root(r(perpendicular to)(2)) = (0.58 +/- 0.04(stat) (+0.01)(-0.02)vertical bar(sys) +/- 0.04(model)) fm. For this measurement, the average virtuality of the photon mediating the interaction is < Q(2)> = 1.8 (GeV/c)(2) and the average value of the Bjorken variable is < X-Bj > = 0.056.
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21.
  • Dareng, EO, et al. (författare)
  • Polygenic risk modeling for prediction of epithelial ovarian cancer risk
  • 2022
  • Ingår i: European journal of human genetics : EJHG. - : Springer Science and Business Media LLC. - 1476-5438 .- 1018-4813. ; 30:3, s. 349-362
  • Tidskriftsartikel (refereegranskat)abstract
    • Polygenic risk scores (PRS) for epithelial ovarian cancer (EOC) have the potential to improve risk stratification. Joint estimation of Single Nucleotide Polymorphism (SNP) effects in models could improve predictive performance over standard approaches of PRS construction. Here, we implemented computationally efficient, penalized, logistic regression models (lasso, elastic net, stepwise) to individual level genotype data and a Bayesian framework with continuous shrinkage, “select and shrink for summary statistics” (S4), to summary level data for epithelial non-mucinous ovarian cancer risk prediction. We developed the models in a dataset consisting of 23,564 non-mucinous EOC cases and 40,138 controls participating in the Ovarian Cancer Association Consortium (OCAC) and validated the best models in three populations of different ancestries: prospective data from 198,101 women of European ancestries; 7,669 women of East Asian ancestries; 1,072 women of African ancestries, and in 18,915 BRCA1 and 12,337 BRCA2 pathogenic variant carriers of European ancestries. In the external validation data, the model with the strongest association for non-mucinous EOC risk derived from the OCAC model development data was the S4 model (27,240 SNPs) with odds ratios (OR) of 1.38 (95% CI: 1.28–1.48, AUC: 0.588) per unit standard deviation, in women of European ancestries; 1.14 (95% CI: 1.08–1.19, AUC: 0.538) in women of East Asian ancestries; 1.38 (95% CI: 1.21–1.58, AUC: 0.593) in women of African ancestries; hazard ratios of 1.36 (95% CI: 1.29–1.43, AUC: 0.592) in BRCA1 pathogenic variant carriers and 1.49 (95% CI: 1.35–1.64, AUC: 0.624) in BRCA2 pathogenic variant carriers. Incorporation of the S4 PRS in risk prediction models for ovarian cancer may have clinical utility in ovarian cancer prevention programs.
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22.
  • Lawrenson, Kate, et al. (författare)
  • Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus
  • 2016
  • Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 7
  • Tidskriftsartikel (refereegranskat)abstract
    • A locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. Here we analyse 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation carriers and 73,444 controls and identify 13 candidate causal SNPs associated with serous OC (P=9.2 × 10-20), ER-negative BC (P=1.1 × 10-13), BRCA1-associated BC (P=7.7 × 10-16) and triple negative BC (P-diff=2 × 10-5). Genotype-gene expression associations are identified for candidate target genes ANKLE1 (P=2 × 10-3) and ABHD8 (P<2 × 10-3). Chromosome conformation capture identifies interactions between four candidate SNPs and ABHD8, and luciferase assays indicate six risk alleles increased transactivation of the ADHD8 promoter. Targeted deletion of a region containing risk SNP rs56069439 in a putative enhancer induces ANKLE1 downregulation; and mRNA stability assays indicate functional effects for an ANKLE1 3′-UTR SNP. Altogether, these data suggest that multiple SNPs at 19p13 regulate ABHD8 and perhaps ANKLE1 expression, and indicate common mechanisms underlying breast and ovarian cancer risk.
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24.
  • Hollestelle, Antoinette, et al. (författare)
  • No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer
  • 2016
  • Ingår i: Gynecologic Oncology. - : Elsevier BV. - 0090-8258 .- 1095-6859. ; 141:2, s. 386-401
  • Tidskriftsartikel (refereegranskat)abstract
    • Objective Clinical genetic testing is commercially available for rs61764370, an inherited variant residing in a KRAS 3′ UTR microRNA binding site, based on suggested associations with increased ovarian and breast cancer risk as well as with survival time. However, prior studies, emphasizing particular subgroups, were relatively small. Therefore, we comprehensively evaluated ovarian and breast cancer risks as well as clinical outcome associated with rs61764370. Methods Centralized genotyping and analysis were performed for 140,012 women enrolled in the Ovarian Cancer Association Consortium (15,357 ovarian cancer patients; 30,816 controls), the Breast Cancer Association Consortium (33,530 breast cancer patients; 37,640 controls), and the Consortium of Modifiers of BRCA1 and BRCA2 (14,765 BRCA1 and 7904 BRCA2 mutation carriers). Results We found no association with risk of ovarian cancer (OR = 0.99, 95% CI 0.94-1.04, p = 0.74) or breast cancer (OR = 0.98, 95% CI 0.94-1.01, p = 0.19) and results were consistent among mutation carriers (BRCA1, ovarian cancer HR = 1.09, 95% CI 0.97-1.23, p = 0.14, breast cancer HR = 1.04, 95% CI 0.97-1.12, p = 0.27; BRCA2, ovarian cancer HR = 0.89, 95% CI 0.71-1.13, p = 0.34, breast cancer HR = 1.06, 95% CI 0.94-1.19, p = 0.35). Null results were also obtained for associations with overall survival following ovarian cancer (HR = 0.94, 95% CI 0.83-1.07, p = 0.38), breast cancer (HR = 0.96, 95% CI 0.87-1.06, p = 0.38), and all other previously-reported associations. Conclusions rs61764370 is not associated with risk of ovarian or breast cancer nor with clinical outcome for patients with these cancers. Therefore, genotyping this variant has no clinical utility related to the prediction or management of these cancers.
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25.
  • Kang, E. Y., et al. (författare)
  • CCNE1 and survival of patients with tubo-ovarian high-grade serous carcinoma: An Ovarian Tumor Tissue Analysis consortium study
  • 2023
  • Ingår i: Cancer. - : Wiley. - 0008-543X .- 1097-0142. ; 129:5, s. 697-713
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: Cyclin E1 (CCNE1) is a potential predictive marker and therapeutic target in tubo-ovarian high-grade serous carcinoma (HGSC). Smaller studies have revealed unfavorable associations for CCNE1 amplification and CCNE1 overexpression with survival, but to date no large-scale, histotype-specific validation has been performed. The hypothesis was that high-level amplification of CCNE1 and CCNE1 overexpression, as well as a combination of the two, are linked to shorter overall survival in HGSC. Methods: Within the Ovarian Tumor Tissue Analysis consortium, amplification status and protein level in 3029 HGSC cases and mRNA expression in 2419 samples were investigated. Results: High-level amplification (>8 copies by chromogenic in situ hybridization) was found in 8.6% of HGSC and overexpression (>60% with at least 5% demonstrating strong intensity by immunohistochemistry) was found in 22.4%. CCNE1 high-level amplification and overexpression both were linked to shorter overall survival in multivariate survival analysis adjusted for age and stage, with hazard stratification by study (hazard ratio [HR], 1.26; 95% CI, 1.08-1.47, p = .034, and HR, 1.18; 95% CI, 1.05-1.32, p = .015, respectively). This was also true for cases with combined high-level amplification/overexpression (HR, 1.26; 95% CI, 1.09-1.47, p = .033). CCNE1 mRNA expression was not associated with overall survival (HR, 1.00 per 1-SD increase; 95% CI, 0.94-1.06; p = .58). CCNE1 high-level amplification is mutually exclusive with the presence of germline BRCA1/2 pathogenic variants and shows an inverse association to RB1 loss. Conclusion: This study provides large-scale validation that CCNE1 high-level amplification is associated with shorter survival, supporting its utility as a prognostic biomarker in HGSC.
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