15 research outputs found

    Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer.

    Get PDF
    We conducted imputation to the 1000 Genomes Project of four genome-wide association studies of lung cancer in populations of European ancestry (11,348 cases and 15,861 controls) and genotyped an additional 10,246 cases and 38,295 controls for follow-up. We identified large-effect genome-wide associations for squamous lung cancer with the rare variants BRCA2 p.Lys3326X (rs11571833, odds ratio (OR) = 2.47, P = 4.74 × 10(-20)) and CHEK2 p.Ile157Thr (rs17879961, OR = 0.38, P = 1.27 × 10(-13)). We also showed an association between common variation at 3q28 (TP63, rs13314271, OR = 1.13, P = 7.22 × 10(-10)) and lung adenocarcinoma that had been previously reported only in Asians. These findings provide further evidence for inherited genetic susceptibility to lung cancer and its biological basis. Additionally, our analysis demonstrates that imputation can identify rare disease-causing variants with substantive effects on cancer risk from preexisting genome-wide association study data

    Tunable sub-gap radiation detection with superconducting resonators

    No full text
    International audienceWe have fabricated planar amorphous indium oxide superconducting resonators (Tc2.8{T}_{{\rm{c}}}\sim 2.8 K) that are sensitive to frequency-selective radiation in the range of 7–10 GHz. Those values lay far below twice the superconducting gap that is worth about 200 GHz. The photon detection consists in a shift of the fundamental resonance frequency. We show that the detected frequency can be adjusted by modulating the total length of the superconducting resonator. We attribute those observations to the excitation of higher-order resonance modes. The coupling between the fundamental lumped and the higher order distributed resonance is due to the kinetic inductance nonlinearity with current. These devices, that we have called sub-gap kinetic inductance detectors, are to be distinguished from the standard kinetic inductance detectors in which quasi-particles are generated when incident light breaks down Cooper pairs
    corecore