33 research outputs found

    Two truncating variants in FANCC and breast cancer risk

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    Fanconi anemia (FA) is a genetically heterogeneous disorder with 22 disease-causing genes reported to date. In some FA genes, monoallelic mutations have been found to be associated with breast cancer risk, while the risk associations of others remain unknown. The gene for FA type C, FANCC, has been proposed as a breast cancer susceptibility gene based on epidemiological and sequencing studies. We used the Oncoarray project to genotype two truncating FANCC variants (p.R185X and p.R548X) in 64,760 breast cancer cases and 49,793 controls of European descent. FANCC mutations were observed in 25 cases (14 with p.R185X, 11 with p.R548X) and 26 controls (18 with p.R185X, 8 with p.R548X). There was no evidence of an association with the risk of breast cancer, neither overall (odds ratio 0.77, 95% CI 0.44-1.33, p = 0.4) nor by histology, hormone receptor status, age or family history. We conclude that the breast cancer risk association of these two FANCC variants, if any, is much smaller than for BRCA1, BRCA2 or PALB2 mutations. If this applies to all truncating variants in FANCC it would suggest there are differences between FA genes in their roles on breast cancer risk and demonstrates the merit of large consortia for clarifying risk associations of rare variants.Peer reviewe

    Quality Management in the ICU: Understanding the Process and Improving the Art

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    Measurement of branching fractions for two-body charmless B decays to charged pions and kaons at BABAR

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    We present preliminary results of a search for charmless two-body B decays to charged pions and kaons using data collected by the BABAR detector at the Stanford Linear Accelerator Center's PEP-II storage ring. In a sample of 8.8 million produced B-anti-B pairs we measure the branching fractions B(B^0 --> pi^+pi^-) = (9.3^{+2.6}_{-2.3}^{+1.2}_{-1.4}) x 10^{-6} and B(B^0 --> K^+\pi^-) = (12.5^{+3.0}_{-2.6}^{+1.3}_{-1.7}) x 10^{-6}, where the first uncertainty is statistical and the second is systematic. For the decay B^0 --> K^+K^- we find no significant signal and set an upper limit of B(B^0 --> K^+K^-) 6.6 x 10^{-6} at the 90% confidence level

    A study of time-dependent CP-violating asymmetries in B0J/ψKS0B^{0} \to J/\psi K^{0}_{S} and B0ψ(2S)KS0B^{0} \to \psi(2S) K^{0}_{S} decays

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    We present a preliminary measurement of time-dependent CP-violating asymmetries in B0 -> J/psi K0S and B0 -> psi(2S) K0S decays recorded by the BABAR detector at the PEP-II asymmetric-energy B Factory at SLAC. The data sample consists of 9.0 fb-1 collected at the Y(4S) resonance and 0.8 fb-1 off-resonance. One of the neutral B mesons, produced in pairs at the Y(4S), is fully reconstructed. The flavor of the other neutral B meson is tagged at the time of its decay, mainly with the charge of identified leptons and kaons. A neural network tagging algorithm is used to recover events without a clear lepton or kaon tag. The time difference between the decays is determined by measuring the distance between the decay vertices. Wrong-tag probabilities and the time resolution function are measured with samples of fully-reconstructed semileptonic and hadronic neutral B final states. The value of the asymmetry amplitude, sin2beta, is determined from a maximum likelihood fit to the time distribution of 120 tagged B0 -> J/psi K0S and B0 -> psi(2S) K0S candidates to be sin2beta = 0.12+/-0.37 (stat) +/- 0.09 (syst) (preliminary)

    Measurement of the B0B^{0} meson properties using partially reconstructed B0Dπ+B^{0} \to D^{*-}\pi^{+} and B0Dl+νB^{0} \to D^{*-}l^{+}\nu decay with the BABAR detector

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    The two B^0 decay processes B^0 --> D^{*-}pi^+ and B^0 --> D^{*-}l^+nu have been studied by means of a partial reconstruction technique using a data sample collected with the BABAR detector at the PEP-II storage ring. To increase statistics, only the soft pi^- from the decay D^{*-} --> pi^-D^0 was used in association with either an oppositely-charged high-momentum pion or lepton. Events were then identified by exploiting the constraints from the simple kinematics of Y(4S) decays. A clear signature is obtained in each case. The position of the B^0 decay point was obtained from the reconstructed pi^+(l^+)pi^- vertex. The position of the other anti-B^0 in the event was also determined. Taking advantage of the boost given to the Y(4S) system by the asymmetric beam energies of PEP-II, the lifetime of the B^0 meson has been measured from the separation distance between the two vertices along the beam direction. The preliminary results are tau_B0 = 1.55+/-0.05+/-0.07 ps, tau_B0 = 1.62+/-0.02+/-0.09 ps, respectively for the B^0 --> D^{*-}pi^+ and B^0 --> D^{*-}l^+nu channels

    Search for B+K+l+lB^{+} \to K^{+}l^{+}l^{-} and B0K0l+lB^{0} \to K^{*0}l^{+}l^{-}

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    Using a sample of 3.7 x 10^{6} Y(4S) --> B-anti-B events collected with the BABAR detector at the PEP-II storage ring, we search for the electroweak penguin decays B^+ --> K^+e^+e^-, B^+ --> K^+mu^+mu^-, B^0 --> K^{*0)e^+e^-, and B^0 --> K^{*0)mu^+mu^-. We observe no significant signals for these modes and set preliminary 90% C.L. upper limits of B(B^+ --> K^+e^+e^-) 12.5 x 10^{-6}, B(B^+ --> K^+mu^+mu^-) 8.3 x 10^{-6}, B(B^0 --> K^{*0)e^+e^-) 24.1 x 10^{-6}, B(B^0 --> K^{*0)mu^+mu^-) 24.5 x 10^{-6}

    The first year of the BABAR experiment at PEP-II

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    The BABAR detector, situated at the SLAC PEP-II asymmetric e^+e^- collider, has been recording data at energies on and around the Upsilon(4S) resonance since May 1999. In this paper, we briefly describe the PEP-II B Factory and the BABAR detector. The performance presently achieved by the experiment in the areas of tracking, vertexing, calorimetry and particle identification is reviewed. Analysis concepts that are used in the various papers submitted to this conference are also discussed
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