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Genetic variation in genes interacting with BRCA1/2 and risk of breast cancer in Cypriot population.
Inability to correctly repair DNA damage is known to play a role in the development of breast cancer. Single nucleotide polymorphisms (SNPs) of DNA repair genes have been identified, which modify the DNA repair capacity, which in turn may affect the risk of developing breast cancer. To assess whether alterations in DNA repair genes contribute to breast cancer, we genotyped 62 SNPs in 29 genes in 1,109 Cypriot women with breast cancer and 1,177 age-matched healthy controls. Five SNPs were associated with breast cancer. SNPs rs13312840 and rs769416 in the NBS1 gene were associated with a decrease in breast cancer risk (OR TT vs. TC/CC = 0.58; 95% CI, 0.37-0.92; P = 0.019 and OR GG vs. GT/TT = 0.23, 95% CI 0.06-0.85, P = 0.017, respectively). The variant allele of MRE11A rs556477 was also associated with a reduced risk of developing the disease (OR AA vs. AG/GG = 0.76; 95% CI, 0.64-0.91; P = 0.0022). MUS81 rs545500 and PBOV1 rs6927706 SNPs were associated with an increased risk of developing breast cancer (OR GG vs. GC/CC = 1.21, 95% CI, 1.02-1.45; P = 0.031; OR AA vs. AG/GG = 1.53, 95% CI, 1.07-2.18; P = 0.019, respectively). Finally, haplotype-based tests identified significant associations between specific haplotypes in MRE11A and NBS1 genes and breast cancer risk. Further large-scale studies are needed to confirm these results
Separated cross sections in \pi^0 electroproduction at threshold at Q^2 = 0.05 GeV^2/c^2
The differential cross sections \sigma_0=\sigma_T+\epsilon \sigma_L,
\sigma_{LT}, and \sigma_{TT} of \pi^0 electroproduction from the proton were
measured from threshold up to an additional center of mass energy of 40 MeV, at
a value of the photon four-momentum transfer of Q^2= 0.05 GeV^2/c^2 and a
center of mass angle of \theta=90^\circ. By an additional out-of-plane
measurement with polarized electrons \sigma_{LT'} was determined. This showed
for the first time the cusp effect above the \pi^+ threshold in the imaginary
part of the s-wave. The predictions of Heavy Baryon Chiral Perturbation Theory
are in disagreement with these data. On the other hand, the data are somewhat
better predicted by the MAID phenomenological model and are in good agreement
with the dynamical model DMT.Comment: 6 pages, 4 figure
Measurements of the \gamma * p --> \Delta(1232) reaction at low Q2
We report new p measurements in the
resonance at the low momentum transfer region utilizing the
magnetic spectrometers of the A1 Collaboration at MAMI. The mesonic cloud
dynamics are predicted to be dominant and appreciably changing in this region
while the momentum transfer is sufficiently low to be able to test chiral
effective calculations. The results disagree with predictions of constituent
quark models and are in reasonable agreement with dynamical calculations with
pion cloud effects, chiral effective field theory and lattice calculations. The
reported measurements suggest that improvement is required to the theoretical
calculations and provide valuable input that will allow their refinements
Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers
INTRODUCTION: More than 70 common alleles are known to be involved in breast cancer (BC) susceptibility, and several exhibit significant heterogeneity in their associations with different BC subtypes. Although there are differences in the association patterns between BRCA1 and BRCA2 mutation carriers and the general population for several loci, no study has comprehensively evaluated the associations of all known BC susceptibility alleles with risk of BC subtypes in BRCA1 and BRCA2 carriers. METHODS: We used data from 15,252 BRCA1 and 8,211 BRCA2 carriers to analyze the associations between approximately 200,000 genetic variants on the iCOGS array and risk of BC subtypes defined by estrogen receptor (ER), progesterone receptor (PR), human epidermal growth factor receptor 2 (HER2) and triple-negative- (TN) status; morphologic subtypes; histological grade; and nodal involvement. RESULTS: The estimated BC hazard ratios (HRs) for the 74 known BC alleles in BRCA1 carriers exhibited moderate correlations with the corresponding odds ratios from the general population. However, their associations with ER-positive BC in BRCA1 carriers were more consistent with the ER-positive associations in the general population (intraclass correlation (ICC) = 0.61, 95% confidence interval (CI): 0.45 to 0.74), and the same was true when considering ER-negative associations in both groups (ICC = 0.59, 95% CI: 0.42 to 0.72). Similarly, there was strong correlation between the ER-positive associations for BRCA1 and BRCA2 carriers (ICC = 0.67, 95% CI: 0.52 to 0.78), whereas ER-positive associations in any one of the groups were generally inconsistent with ER-negative associations in any of the others. After stratifying by ER status in mutation carriers, additional significant associations were observed. Several previously unreported variants exhibited associations at P <10(-6) in the analyses by PR status, HER2 status, TN phenotype, morphologic subtypes, histological grade and nodal involvement. CONCLUSIONS: Differences in associations of common BC susceptibility alleles between BRCA1 and BRCA2 carriers and the general population are explained to a large extent by differences in the prevalence of ER-positive and ER-negative tumors. Estimates of the risks associated with these variants based on population-based studies are likely to be applicable to mutation carriers after taking ER status into account, which has implications for risk prediction.published_or_final_versio
The f_LT Response Function of D(e,e'p)n at Q^2=0.33(GeV/c)^2
The interference response function f_LT (R_LT) of the D(e,e'p)n reaction has
been determined at squared four-momentum transfer Q^2 = 0.33 (GeV/c)^2 and for
missing momenta up to p_miss= 0.29 (GeV/c). The results have been compared to
calculations that reproduce f_LT quite well but overestimate the cross sections
by 10 - 20% for missing momenta between 0.1 (GeV/c) and 0.2 (GeV/c) .Comment: 12 Pages, 10 figure
Final State Interaction Effects in pol 3He(pol e,e'p)
Asymmetries in quasi-elastic pol 3He(pol e,e'p) have been measured at a
momentum transfer of 0.67 (GeV/c)^2 and are compared to a calculation which
takes into account relativistic kinematics in the final state and a
relativistic one-body current operator. With an exact solution of the Faddeev
equation for the 3He-ground state and an approximate treatment of final state
interactions in the continuum good agreement is found with the experimental
data.Comment: 11 pages, 6 figures, submitted to Phys. Lett. B, revised version,
sensitivity study to relativity and NN-potential adde
Coherent \pi^0 threshold production from the deuteron at Q^2 = 0.1 GeV^2/c^2
First data on coherent threshold \pi^0 electroproduction from the deuteron
taken by the A1 Collaboration at the Mainz Microtron MAMI are presented. At a
four-momentum transfer of q^2=-0.1 GeV^2/c^2 the full solid angle was covered
up to a center-of-mass energy of 4 MeV above threshold. By means of a
Rosenbluth separation the longitudinal threshold s wave multipole and an upper
limit for the transverse threshold s wave multipole could be extracted and
compared to predictions of Heavy Baryon Chiral Perturbation Theory.Comment: 7 pages, 7 figures, latex2
New detectors for the kaon and hypernuclear experiments with KaoS at MAMI and with PANDA at GSI
The KaoS spectrometer at the Mainz Microtron MAMI, Germany, is perceived as
the ideal candidate for a dedicated spectrometer in kaon and hypernuclei
electroproduction. KaoS will be equipped with new read-out electronics, a
completely new focal plane detector package consisting of scintillating fibres,
and a new trigger system. First prototypes of the fibre detectors and the
associated new front-end electronics are shown in this contribution. The Mainz
hypernuclei research program will complement the hypernuclear experiments at
the planned FAIR facility at GSI, Germany. At the proposed antiproton storage
ring the spectroscopy of double Lambda hypernuclei is one of the four main
topics which will be addressed by the PANDA Collaboration. The experiments
require the operation of high purity germanium (HPGe) detectors in high
magnetic fields (B= 1T) in the presence of a large hadronic background. The
performance of high resolution Ge detectors in such an environment has been
investigated.Comment: Presentation at International Symposium on the Development of
Detectors for Particle, Astroparticle and Synchrotron Radiation Experiments,
Stanford, Ca (SNIC06), 6 pages, LaTeX, 11 eps figure
Lowest Q^2 Measurement of the gamma*p -> Delta Reaction: Probing the Pionic Contribution
To determine nonspherical angular momentum amplitudes in hadrons at long
ranges (low Q^2), data were taken for the p(\vec{e},e'p)\pi^0 reaction in the
Delta region at Q^2=0.060 (GeV/c)^2 utilizing the magnetic spectrometers of the
A1 Collaboration at MAMI. The results for the dominant transition magnetic
dipole amplitude and the quadrupole to dipole ratios at W=1232 MeV are:
M_{1+}^{3/2} = (40.33 +/- 0.63_{stat+syst} +/- 0.61_{model})
(10^{-3}/m_{\pi^+}),Re(E_{1+}^{3/2}/M_{1+}^{3/2}) = (-2.28 +/- 0.29_{stat+syst}
+/- 0.20_{model})%, and Re(S_{1+}^{3/2}/M_{1+}^{3/2}) = (-4.81 +/-
0.27_{stat+syst} +/- 0.26_{model})%. These disagree with predictions of
constituent quark models but are in reasonable agreement with lattice
calculations with non-linear (chiral) pion mass extrapolations, with chiral
effective field theory, and with dynamical models with pion cloud effects.
These results confirm the dominance, and general Q^2 variation, of the pionic
contribution at large distances.Comment: 6 pages, 3 figures, 1 tabl
Measurement of the LT-asymmetry in \pi^0 electroproduction at the energy of the \Delta (1232) resonance
The reaction p(e,e'p)pi^0 has been studied at Q^2=0.2 (GeV/c)^2 in the region
of W=1232 MeV. From measurements left and right of q, cross section asymmetries
\rho_LT have been obtained in forward kinematics \rho_LT(\theta_\pi^0=20deg) =
(-11.68 +/- 2.36_stat +/- 2.36_sys)$ and backward kinematics
\rho_LT(\theta_\pi^0=160deg) =(12.18 +/- 0.27_stat +/- 0.82_sys). Multipole
ratios \Re(S_1+^* M_1+)/|M_1+|^2 and \Re(S_0+^* M_1+)/|M_1+|^2 were determined
in the framework of the MAID2003 model. The results are in agreement with older
data. The unusally strong negative \Re(S_0+^* M_1+)/|M_1+|^2 required to bring
also the result of Kalleicher et al. in accordance with the rest of the data is
almost excluded.Comment: 7 pages, 7 figures, 4 tables. Changed content. Accepted for
publication in EPJ
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