464 research outputs found

    Ancestry of the Brazilian TP53 c.1010G>A (p.Arg337His, R337H) founder mutation : clues from haplotyping of short tandem repeats on Chromosome 17p

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    Rare germline mutations in TP53 (17p13.1) cause a highly penetrant predisposition to a specific spectrum of early cancers, defining the Li-Fraumeni Syndrome (LFS). A germline mutation at codon 337 (p.Arg337His, c1010G>A) is found in about 0.3% of the population of Southern Brazil. This mutation is associated with partially penetrant LFS traits and is found in the germline of patients with early cancers of the LFS spectrum unselected for familial his- tory. To characterize the extended haplotypes carrying the mutation, we have genotyped 9 short tandem repeats on chromosome 17p in 12 trios of Brazilian p.Arg337His carriers. Results confirm that all share a common ancestor haplotype of Caucasian/Portuguese-Ibe- ric origin, distant in about 72–84 generations (2000 years assuming a 25 years intergenera- tional distance) and thus pre-dating European migration to Brazil. So far, the founder p. Arg337His haplotype has not been detected outside Brazil, with the exception of two resi- dents of Portugal, one of them of Brazilian origin. On the other hand, increased meiotic recombination in p.Arg337His carriers may account for higher than expected haplotype diversity. Further studies comparing haplotypes in populations of Brazil and of other areas of Portuguese migration are needed to understand the historical context of this mutation in Brazil.This study was funded by grant # 478430/2012-4 from CNPq (RFA MCT/CNPq - No 14/2012; Universal), Brazil.We would like to thank UFRGS, UFPA, AC Camargo, HC Barretos and University of Minho for their support during this work

    Search for narrow resonances in dilepton mass spectra in proton-proton collisions at sqrt(s) = 13 TeV and combination with 8 TeV data

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    A search for narrow resonances in dielectron and dimuon invariant mass spectra has been performed using data obtained from proton–proton collisions at View the MathML sources=13 TeV collected with the CMS detector. The integrated luminosity for the dielectron sample is 2.7 fb−1 and for the dimuon sample 2.9 fb−1. The sensitivity of the search is increased by combining these data with a previously analyzed set of data obtained at View the MathML sources=8 TeV and corresponding to a luminosity of 20 fb−1. No evidence for non-standard-model physics is found, either in the 13 TeV data set alone, or in the combined data set. Upper limits on the product of production cross section and branching fraction have also been calculated in a model-independent manner to enable interpretation in models predicting a narrow dielectron or dimuon resonance structure. Limits are set on the masses of hypothetical particles that could appear in new-physics scenarios. For the View the MathML sourceZSSM′ particle, which arises in the sequential standard model, and for the superstring inspired View the MathML sourceZψ′ particle, 95% confidence level lower mass limits for the combined data sets and combined channels are found to be 3.37 and 2.82 TeV, respectively. The corresponding limits for the lightest Kaluza–Klein graviton arising in the Randall–Sundrum model of extra dimensions with coupling parameters 0.01 and 0.10 are 1.46 and 3.11 TeV, respectively. These results significantly exceed the limits based on the 8 TeV LHC data

    Search for light bosons in decays of the 125 GeV Higgs boson in proton-proton collisions at root s=8 TeV

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    Search for Evidence of the Type-III Seesaw Mechanism in Multilepton Final States in Proton-Proton Collisions at root s=13 TeV

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    Mechanical stability of the CMS strip tracker measured with a laser alignment system

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    Search for new phenomena with the M-T2 variable in the all-hadronic final state produced in proton-proton collisions at root s=13TeV

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    Search for Supersymmetry in pp Collisions at root s=13 TeV in the Single-Lepton Final State Using the Sum of Masses of Large-Radius Jets

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    Search for a light pseudoscalar Higgs boson produced in association with bottom quarks in pp collisions at root s=8 TeV

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    Search for new physics with dijet angular distributions in proton-proton collisions at root S = 13 TeV

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