| 1. |
- Jiang, X., et al.
(författare)
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Shared heritability and functional enrichment across six solid cancers
- 2019
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10
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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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| 2. |
- Akhunzyanov, R., et al.
(författare)
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Transverse extension of partons in the proton probed in the sea-quark range by measuring the DVCS cross section
- 2019
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Ingår i: Physics Letters B. - : ELSEVIER SCIENCE BV. - 0370-2693 .- 1873-2445. ; 793, s. 188-194
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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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| 3. |
- Jackura, A., et al.
(författare)
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New analysis of eta pi tensor resonances measured at the COMPASS experiment
- 2018
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Ingår i: Physics Letters B. - : Elsevier BV. - 0370-2693 .- 1873-2445. ; 779, s. 464-472
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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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| 4. |
- Adolph, C., et al.
(författare)
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Multiplicities of charged pions and charged hadrons from deep-inelastic scattering of muons off an isoscalar target
- 2017
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Ingår i: Physics Letters B. - : ELSEVIER SCIENCE BV. - 0370-2693 .- 1873-2445. ; 764, s. 1-10
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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)
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Final COMPASS results on the deuteron spin-dependent structure function g(1)(d) and the Bjorken sum rule
- 2017
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Ingår i: Physics Letters B. - : Elsevier BV. - 0370-2693 .- 1873-2445. ; 769, s. 34-41
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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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| 6. |
- Aghasyan, M., et al.
(författare)
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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
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Ingår i: Physics Letters B. - : ELSEVIER SCIENCE BV. - 0370-2693 .- 1873-2445. ; 781, s. 464-472
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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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| 7. |
- Adolph, C., et al.
(författare)
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Leading-order determination of the gluon polarisation from semi-inclusive deep inelastic scattering data
- 2017
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Ingår i: European Physical Journal C. - : SPRINGER. - 1434-6044 .- 1434-6052. ; 77:4
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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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| 8. |
- Adolph, C., et al.
(författare)
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Multiplicities of charged kaons from deep-inelastic muon scattering off an isoscalar target
- 2017
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Ingår i: Physics Letters B. - : ELSEVIER SCIENCE BV. - 0370-2693 .- 1873-2445. ; 767, s. 133-141
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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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| 9. |
- Adolph, C., et al.
(författare)
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Sivers asymmetry extracted in SIDIS at the hard scales of the Drell-Yan process at COMPASS
- 2017
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Ingår i: Physics Letters B. - : Elsevier BV. - 0370-2693 .- 1873-2445. ; 770, s. 138-145
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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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| 10. |
- Adolphi, C., et al.
(författare)
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Exclusive omega meson muoproduction on transversely polarised protons
- 2017
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Ingår i: Nuclear Physics B. - : ELSEVIER SCIENCE BV. - 0550-3213 .- 1873-1562. ; 915, s. 454-475
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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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| 11. |
- Aghasyan, M., et al.
(författare)
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Light isovector resonances in pi(-) p -> pi(-) pi(-) pi(+)p at 190 GeV/c
- 2018
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Ingår i: Physical Review D. - : AMER PHYSICAL SOC. - 2470-0010 .- 2470-0029. ; 98:9
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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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| 12. |
- Aghasyan, M., et al.
(författare)
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Search for muoproduction of X(3872) at COMPASS and indication of a new state (X)over-tilde(3872)
- 2018
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Ingår i: Physics Letters B. - : ELSEVIER SCIENCE BV. - 0370-2693 .- 1873-2445. ; 783, s. 334-340
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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)
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Transverse-momentum-dependent multiplicities of charged hadrons in muon-deuteron deep inelastic scattering
- 2018
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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. |
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| 15. |
- Adolph, C., et al.
(författare)
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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
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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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| 16. |
- Adolph, C., et al.
(författare)
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First measurement of the Sivers asymmetry for gluons using SIDIS data
- 2017
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Ingår i: Physics Letters B. - : Elsevier BV. - 0370-2693 .- 1873-2445. ; 772, s. 854-864
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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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| 17. |
- Aghasyan, M., et al.
(författare)
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First Measurement of Transverse-Spin-Dependent Azimuthal Asymmetries in the Drell-Yan Process
- 2017
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Ingår i: Physical Review Letters. - 0031-9007 .- 1079-7114. ; 119:11
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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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| 18. |
- Kang, E. Y., et al.
(författare)
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CCNE1 and survival of patients with tubo-ovarian high-grade serous carcinoma: An Ovarian Tumor Tissue Analysis consortium study
- 2023
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Ingår i: Cancer. - : Wiley. - 0008-543X .- 1097-0142. ; 129:5, s. 697-713
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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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| 19. |
- Dareng, EO, et al.
(författare)
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Polygenic risk modeling for prediction of epithelial ovarian cancer risk
- 2022
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Ingår i: European journal of human genetics : EJHG. - : Springer Science and Business Media LLC. - 1476-5438 .- 1018-4813. ; 30:3, s. 349-362
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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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| 20. |
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| 21. |
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| 22. |
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| 23. |
- Hollestelle, Antoinette, et al.
(författare)
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No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer
- 2016
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Ingår i: Gynecologic Oncology. - : Elsevier BV. - 0090-8258 .- 1095-6859. ; 141:2, s. 386-401
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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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| 24. |
- Kang, E. Y., et al.
(författare)
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MCM3 is a novel proliferation marker associated with longer survival for patients with tubo-ovarian high-grade serous carcinoma
- 2022
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Ingår i: Virchows Archiv. - : Springer Science and Business Media LLC. - 0945-6317 .- 1432-2307. ; 480, s. 855-871
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Tidskriftsartikel (refereegranskat)abstract
- Tubo-ovarian high-grade serous carcinomas (HGSC) are highly proliferative neoplasms that generally respond well to platinum/taxane chemotherapy. We recently identified minichromosome maintenance complex component 3 (MCM3), which is involved in the initiation of DNA replication and proliferation, as a favorable prognostic marker in HGSC. Our objective was to further validate whether MCM3 mRNA expression and possibly MCM3 protein levels are associated with survival in patients with HGSC. MCM3 mRNA expression was measured using NanoString expression profiling on formalin-fixed and paraffin-embedded tissue (N = 2355 HGSC) and MCM3 protein expression was assessed by immunohistochemistry (N = 522 HGSC) and compared with Ki-67. Kaplan-Meier curves and the Cox proportional hazards model were used to estimate associations with survival. Among chemotherapy-naive HGSC, higher MCM3 mRNA expression (one standard deviation increase in the score) was associated with longer overall survival (HR = 0.87, 95% CI 0.81-0.92, p < 0.0001, N = 1840) in multivariable analysis. MCM3 mRNA expression was highest in the HGSC C5.PRO molecular subtype, although no interaction was observed between MCM3, survival and molecular subtypes. MCM3 and Ki-67 protein levels were significantly lower after exposure to neoadjuvant chemotherapy compared to chemotherapy-naive tumors: 37.0% versus 46.4% and 22.9% versus 34.2%, respectively. Among chemotherapy-naive HGSC, high MCM3 protein levels were also associated with significantly longer disease-specific survival (HR = 0.52, 95% CI 0.36-0.74, p = 0.0003, N = 392) compared to cases with low MCM3 protein levels in multivariable analysis. MCM3 immunohistochemistry is a promising surrogate marker of proliferation in HGSC.
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| 25. |
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| 27. |
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| 32. |
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| 33. |
- Lawrenson, Kate, et al.
(författare)
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Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus
- 2016
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 7
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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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| 34. |
- Bondeson, Lennart, et al.
(författare)
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Tumours of the thyroid and parathyroid
- 2004
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Ingår i: Pathology and Genetics of Tumours of Endocrine Organs (WHO Classification of Tumours; 8). - 9283224167 ; , s. 49-49
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Bokkapitel (övrigt vetenskapligt/konstnärligt)
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| 35. |
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| 36. |
- Katsoulis, J, et al.
(författare)
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Impact of sample storage on detection of periodontal bacteria.
- 2005
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Ingår i: Oral Microbiology and Immunology. - 0902-0055 .- 1399-302X. ; 20:2, s. 128-130
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND/AIMS: Information on the impact of sample storage prior to analysis by DNA methods is limited. The aim of this study was to investigate the effect of subgingival sample storage on bacterial detection and enumeration.MATERIAL AND METHODS: Subgingival plaque samples were studied by a) checkerboard DNA-DNA hybridization by immediate processing, b) storage at + 4 degrees C for 6 weeks, c) storage at - 20 degrees C for 6 months or d) storage at - 20 degrees C for 12 months.RESULTS: No differences in total DNA were found between protocol 1 and 2, or between protocol 3 and 4. Protocol 1 yielded 2.4 times more total bacterial DNA than did protocol 3 (P < 0.001). Actinobacillus actinomycetemcomitans and Campylobacter gracilis were detected in 21.1% of the immediately processed samples but only in 6.6% of the samples after 12 months of storage. Similar changes were noticed for Treponema denticola, which was detected in 22.3% and 9.2%, respectively. Streptococci spp., Fusobacterium nucleatum and Tannerella forsythia did not seem to be affected by storage. In contrast, the level of Campylobacter rectus detection frequency changed from 2.6% if processed immediately to 15.8% if samples were stored for 12 months.CONCLUSIONS: In longitudinal clinical studies including microbiological samples and processed with DNA-DNA hybridization methods, samples should be stored for the same period of time before processing to avoid loss of microbiological information.
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| 37. |
- Lu, Yingchang, et al.
(författare)
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A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk.
- 2018
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Ingår i: Cancer Research. - 0008-5472 .- 1538-7445. ; 78:18, s. 5419-5430
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Tidskriftsartikel (refereegranskat)abstract
- .AbstractLarge-scale genome-wide association studies (GWAS) have identified approximately 35 loci associated with epithelial ovarian cancer (EOC) risk. The majority of GWAS-identified disease susceptibility variants are located in noncoding regions, and causal genes underlying these associations remain largely unknown. Here, we performed a transcriptome-wide association study to search for novel genetic loci and plausible causal genes at known GWAS loci. We used RNA sequencing data (68 normal ovarian tissue samples from 68 individuals and 6,124 cross-tissue samples from 369 individuals) and high-density genotyping data from European descendants of the Genotype-Tissue Expression (GTEx V6) project to build ovarian and cross-tissue models of genetically regulated expression using elastic net methods. We evaluated 17,121 genes for their cis-predicted gene expression in relation to EOC risk using summary statistics data from GWAS of 97,898 women, including 29,396 EOC cases. With a Bonferroni-corrected significance level of P < 2.2 × 10−6, we identified 35 genes, including FZD4 at 11q14.2 (Z = 5.08, P = 3.83 × 10−7, the cross-tissue model; 1 Mb away from any GWAS-identified EOC risk variant), a potential novel locus for EOC risk. All other 34 significantly associated genes were located within 1 Mb of known GWAS-identified loci, including 23 genes at 6 loci not previously linked to EOC risk. Upon conditioning on nearby known EOC GWAS-identified variants, the associations for 31 genes disappeared and three genes remained (P < 1.47 × 10−3). These data identify one novel locus (FZD4) and 34 genes at 13 known EOC risk loci associated with EOC risk, providing new insights into EOC carcinogenesis.Significance: Transcriptomic analysis of a large cohort confirms earlier GWAS loci and reveals FZD4 as a novel locus associated with EOC risk. Cancer Res; 78(18); 5419–30. ©2018 AACR.
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| 38. |
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| 39. |
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| 40. |
- Daralnakhla, H, et al.
(författare)
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Lipophilic Peptide Dendrimers for Delivery of Splice-Switching Oligonucleotides
- 2021
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Ingår i: Pharmaceutics. - : MDPI AG. - 1999-4923. ; 13:1
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Tidskriftsartikel (refereegranskat)abstract
- Non-viral transfection reagents are continuously being developed in attempt to replace viral vectors. Among those non-viral vectors, dendrimers have gained increasing interest due to their unique molecular structure and multivalency. However, more improvements are still needed to achieve higher efficacy and lower toxicity. In this study, we have examined 18 peptide dendrimers conjugated to lipophilic moieties, such as fatty acids or hydrophobic amino acids, that were previously explored for siRNA. Reporter cells were employed to investigate the transfection of single strand splice-switching oligonucleotides (ONs) using these peptide dendrimers. Luciferase level changes reflecting efficiency varied with amino acid composition, stereochemistry, and complexation media used. 3rd generation peptide dendrimers with D-amino acid configuration were superior to L-form. Lead formulations with 3rd generation, D-amino acid peptide dendrimers increased the correction level of the delivered ON up to 93-fold over untreated HeLa Luc/705 cells with minimal toxicity. To stabilize the formed complexes, Polyvinyl alcohol 18 (PVA18) polymer was added. Although PVA18 addition increased activity, toxicity when using our best candidates G 2,3KL-(Leu)4 (D) and G 2,3KL-diPalmitamide (D) was observed. Our findings demonstrate the potential of lipid-conjugated, D-amino acid-containing peptide dendrimers to be utilized as an effective and safe delivery vector for splice-switching ONs.
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| 41. |
- Heitz, BA, et al.
(författare)
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Expression of truncated Kir6.2 promotes insertion of functionally inverted ATP-sensitive K+ channels
- 2021
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Ingår i: Scientific reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 11:1, s. 21539-
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Tidskriftsartikel (refereegranskat)abstract
- ATP-sensitive K+ (KATP) channels couple cellular metabolism to electrical activity in many cell types. Wild-type KATP channels are comprised of four pore forming (Kir6.x) and four regulatory (sulfonylurea receptor, SURx) subunits that each contain RKR endoplasmic reticulum retention sequences that serve to properly translocate the channel to the plasma membrane. Truncated Kir6.x variants lacking RKR sequences facilitate plasma membrane expression of functional Kir6.x in the absence of SURx; however, the effects of channel truncation on plasma membrane orientation have not been explored. To investigate the role of truncation on plasma membrane orientation of ATP sensitive K+ channels, three truncated variants of Kir6.2 were used (Kir6.2ΔC26, 6xHis-Kir6.2ΔC26, and 6xHis-EGFP-Kir6.2ΔC26). Oocyte expression of Kir6.2ΔC26 shows the presence of a population of inverted inserted channels in the plasma membrane, which is not present when co-expressed with SUR1. Immunocytochemical staining of intact and permeabilized HEK293 cells revealed that the N-terminus of 6xHis-Kir6.2ΔC26 was accessible on both sides of the plasma membrane at roughly equivalent ratios, whereas the N-terminus of 6xHis-EGFP-Kir6.2Δ26 was only accessible on the intracellular face. In HEK293 cells, whole-cell electrophysiological recordings showed a ca. 50% reduction in K+ current upon addition of ATP to the extracellular solution for 6xHis-Kir6.2ΔC26, though sensitivity to extracellular ATP was not observed in 6xHis-EGFP-Kir6.2ΔC26. Importantly, the population of channels that is inverted exhibited similar function to properly inserted channels within the plasma membrane. Taken together, these data suggest that in the absence of SURx, inverted channels can be formed from truncated Kir6.x subunits that are functionally active which may provide a new model for testing pharmacological modulators of Kir6.x, but also indicates the need for added caution when using truncated Kir6.2 mutants.
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| 42. |
- Klinge, Björn, et al.
(författare)
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Dental implant register: Summary and consensus statements of group 2. The 5th EAO Consensus Conference 2018
- 2018
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Ingår i: Clinical Oral Implants Research. - : Wiley. - 0905-7161 .- 1600-0501. ; 29:Supplement: 18, s. 157-159
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Tidskriftsartikel (refereegranskat)abstract
- Objectives: This publication reports the EAO Workshop group-2 and consensus plenary discussions and statements on a narrative review providing the background and possible facilities and importance of a dental implant register, to allow for a systematic follow-up of the clinical outcome of dental implant treatment in various clinical settings. It should be observed that the format of the review and the subsequent consensus report consciously departs from conventional consensus publications and reports. Material and methods: The publication was a narrative review on the presence and significance of quality registers regarding select medical conditions and procedures. The group discussed and evaluated the publication and made corrections and recommendations to the authors and agreed on the statements and recommendations described in this consensus report. Results: Possible registrations to be included in an implant register were discussed and agreed as a preliminary basis for further development, meaning that additional parameters be included or some be deleted. Conclusions: It was agreed to bring the idea of an implant quality register, including the presented results of discussions and proposals by the group- and plenary sessions, to the EAO Board for further discussion and decision.
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| 43. |
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| 44. |
- Roncolato, Felicia T., et al.
(författare)
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Reducing Uncertainty: Predictors of Stopping Chemotherapy Early and Shortened Survival Time in Platinum Resistant/Refractory Ovarian Cancer-The GCIG Symptom Benefit Study
- 2017
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Ingår i: The Oncologist. - : WILEY. - 1083-7159 .- 1549-490X. ; 22:9, s. 1117-1124
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Tidskriftsartikel (refereegranskat)abstract
- Background. Clinicians and patients often overestimate the benefits of chemotherapy, and overall survival (OS), in platinum resistant/refractory ovarian cancer (PRROC). This study sought to determine aspects of health-related quality of life and clinicopathological characteristics before starting chemotherapy that were associated with stopping chemotherapy early, shortened survival, and death within 30 days of chemotherapy. Materials and Methods. This study enrolled women with PRROC before starting palliative chemotherapy. Health-related quality of life was measured with EORTC QLQ-C30/QLQ-OV28. Chemotherapy stopped within 8 weeks of starting was defined as stopping early. Logistic regression was used to assess univariable and multivariable associations with stopping chemotherapy early and death within 30 days of chemotherapy; Cox proportional hazards regression was used to assess associations with progression-free and OS. Results. Low baseline global health status (GHS), role function (RF), physical function (PF), and high abdominal/gastrointestinal symptom (AGIS) were associated with stopping chemotherapy early (all pamp;lt;.007); low PF and RF remained significant after adjusting for clinicopathological factors (both pamp;lt;.0401). Most who stopped chemotherapy early had Eastern Cooperative Oncology Group Performance Score 0-1 at baseline (79%); PF, RF, and GHS remained independently significant predictors of stopping chemotherapy early in this subgroup. Death within 30 days of chemotherapy occurred in 14%. Low-GHS, RF, and PF remained significantly associated with death within 30 days of chemotherapy after adjusting for clinicopathological factors (all pamp;lt;.012). Conclusion. Women with low GHS, RF, or PF before starting chemotherapy were more likely to stop chemotherapy early, with short OS. Self-ratings of GHS, RF, and PF could improve patient-clinician communication regarding prognosis and help decision-making in women considering chemotherapy for PRROC.
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| 45. |
- Ryu, J. H., et al.
(författare)
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Beam stability of buried-heterostructure quantum cascade lasers formed by ICP-etching and HVPE regrowth
- 2021
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Ingår i: Proceedings of SPIE - The International Society for Optical Engineering. - : SPIE-Intl Soc Optical Eng.
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Konferensbidrag (refereegranskat)abstract
- Scaling the coherent power of mid-infrared (IR)-emitting quantum cascade lasers (QCLs) to the multi-watt range remains an important objective for applications where the laser beam needs to travel through air to remote targets, such as freespace communication links. For such applications requiring long-range pointing accuracy, measurements of beam stability are also important. We present beam-quality measurement results of narrow-ridge (4-5 μm), 4.6 μm-emitting buriedheterostructure (BH) QCLs. A 40-stage, step-tapered active-region (STA) structure was grown by MOCVD, and ICP etching was used to make deep ridges. InP:Fe was preferentially regrown in the field regions by using an SiO2 mask for ridge etching and Hydride Vapor Phase Epitaxy (HVPE). The HVPE process is attractive for selective regrowth, since high growth rates (0.2-0.3 μm/min) can be utilized, and highly planar top surfaces can readily be obtained. HVPE regrowth has been previously employed for BH devices of MBE-grown QCL ridges, but beam-stability measurements were not reported. HR-coated, 7.5 mm-long devices were measured under QCW operation (100 μsec pulse width, 0.5%-10% duty cycle) - very good beam quality factors, M2 < 1.2, were observed for both 4 μm and 5 μm ridge widths, but the narrower ridge exhibited better pointing stability. Collimated 5 μm-wide BH devices displayed some small degree of centroid motion with increasing power (< 0.125 mrad). This corresponds to a targeting error of ∼1.25 cm over a distance of 100 m. Significantly improved lateral-beam stability was observed for narrower ridge width, although at the expense of reduced output power.
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| 46. |
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| 47. |
- Sanz, M., et al.
(författare)
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Biological aspects: Summary and consensus statements of group 2. The 5th EAO Consensus Conference 2018
- 2018
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Ingår i: Clinical Oral Implants Research. - : Wiley. - 0905-7161 .- 1600-0501. ; 29:Supplement: 18, s. 152-156
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Tidskriftsartikel (refereegranskat)abstract
- Objectives: This publication reports the EAO Workshop group-2 discussions and consensus statements which provided the scientific evidence on the influence of biological parameters on implant-related clinical outcomes. Material and methods: The first publication was a systematic review on the biological effects of abutment material on the stability of peri-implant marginal bone levels and the second, a critical narrative review on how peri-implant diagnostic parameters correspond with long-term implant survival and success. The group evaluated the content of both publications, made corrections and recommendations to the authors and agreed on the consensus statements, clinical recommendations and recommendations for future research, which are described in this consensus report. Results: Tested abutment materials can be considered appropriate for clinical use according to the observation period studied (mean 3.5 years). Mean peri-implant bone loss and mean probing pocket depths are not adequate outcomes to study the prevalence of peri-implantitis, while the reporting of frequency distributions is considered more appropriate. Conclusions: Titanium is currently considered the standard of care as abutment material, although other materials may be more suitable for aesthetic locations. Peri-implantitis should be diagnosed through composite evaluations of peri-implant tissue inflammation and assessment of marginal bone loss with different thresholds.
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| 48. |
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| 49. |
- Tonetti, M. S., et al.
(författare)
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Relevant domains, core outcome sets and measurements for implant dentistry clinical trials: The Implant Dentistry Core Outcome Set and Measurement (ID-COSM) international consensus report
- 2023
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Ingår i: Journal of Clinical Periodontology. - 0303-6979 .- 1600-051X. ; 50:suppl. 25, s. 5-21
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Tidskriftsartikel (refereegranskat)abstract
- Aim: Lack of consistently reported outcomes limits progress in evidence-based implant dentistry and quality of care. The objective of this initiative was to develop a core outcome set (COS) and measurements for implant dentistry clinical trials (ID-COSM). Materials and Methods: This Core Outcome Measures in Effectiveness Trials (COMET)-registered international initiative comprised six steps over 24 months: (i) systematic reviews of outcomes reported in the last 10 years; (ii) international patient focus groups; (iii) a Delphi project with a broad range of stakeholders (care providers, clinical researchers, methodologists, patients and industry representatives); (iv) expert group discussions organizing the outcomes in domains using a theoretical framework and identifying the COSs; (v) identification of valid measurement systems to capture the different domains and (vi) final consensus and formal approval involving experts and patients. The methods were modified from the best practice approach following the Outcome Measures in Rheumatoid Arthritis Clinical Trial and COMET manuals. Results: The systematic reviews and patient focus groups identified 754 (665 + 89, respectively) relevant outcome measures. After elimination of redundancies and duplicates, 111 were formally assessed in the Delphi project. By applying prespecified filters, the Delphi process identified 22 essential outcomes. These were reduced to 13 after aggregating alternative assessments of the same features. The expert committee organized them into four core outcome areas: (i) pathophysiology, (ii) implant/prosthesis lifespan, (iii) life impact and (iv) access to care. In each area, core outcomes were identified to capture both the benefits and harms of therapy. Mandatory outcome domains included assessment of surgical morbidity and complications, peri-implant tissue health status, intervention-related adverse events, complication-free survival and overall patient satisfaction and comfort. Outcomes deemed mandatory in specific circumstances comprised function (mastication, speech, aesthetics and denture retention), quality of life, effort for treatment and maintenance and cost effectiveness. Specialized COSs were identified for bone and soft-tissue augmentation procedures. The validity of measurement instruments ranged from international consensus (peri-implant tissue health status) to early identification of important outcomes (patient-reported outcomes identified by the focus groups). Conclusions: The ID-COSM initiative reached a consensus on a core set of mandatory outcomes for clinical trials in implant dentistry and/or soft tissue/bone augmentation. Adoption in future protocols and reporting on the respective domain areas by currently ongoing trials will contribute to improving evidence-informed implant dentistry and quality of care.
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| 50. |
- Yang, Yaohua, et al.
(författare)
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Genetic Data from Nearly 63,000 Women of European Descent Predicts DNA Methylation Biomarkers and Epithelial Ovarian Cancer Risk
- 2019
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Ingår i: Cancer Research. - : AMER ASSOC CANCER RESEARCH. - 0008-5472 .- 1538-7445. ; 79:3, s. 505-517
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Tidskriftsartikel (refereegranskat)abstract
- DNA methylation is instrumental for gene regulation. Global changes in the epigenetic landscape have been recognized as a hallmark of cancer. However, the role of DNA methylation in epithelial ovarian cancer (EOC) remains unclear. In this study, high-density genetic and DNA methylation data in white blood cells from the Framingham Heart Study (N = 1,595) were used to build genetic models to predict DNA methylation levels. These prediction models were then applied to the summary statistics of a genome-wide association study (GWAS) of ovarian cancer including 22,406 EOC cases and 40,941 controls to investigate genetically predicted DNA methylation levels in association with EOC risk. Among 62,938 CpG sites investigated, genetically predicted methylation levels at 89 CpG were significantly associated with EOC risk at a Bonferroni-corrected threshold of P < 7.94 x 10(-7). Of them, 87 were located at GWAS-identified EOC susceptibility regions and two resided in a genomic region not previously reported to be associated with EOC risk. Integrative analyses of genetic, methylation, and gene expression data identified consistent directions of associations across 12 CpG, five genes, and EOC risk, suggesting that methylation at these 12 CpG may influence EOC risk by regulating expression of these five genes, namely MAPT, HOXB3, ABHD8, ARHGAP27, and SKAP1. We identified novel DNA methylation markers associated with EOC risk and propose that methylation at multiple CpG may affect EOC risk via regulation of gene expression. Significance: Identification of novel DNA methylation markers associated with EOC risk suggests that methylation at multiple CpG may affect EOC risk through regulation of gene expression.
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