72 research outputs found

    A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

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    Breast cancer (BC) risk for BRCA1 and BRCA2 mutation carriers varies by genetic and familial factors. About 50 common variants have been shown to modify BC risk for mutation carriers. All but three, were identified in general population studies. Other mutation carrier-specific susceptibility variants may exist but studies of mutation carriers have so far been underpowered. We conduct a novel case-only genome-wide association study comparing genotype frequencies between 60,212 general population BC cases and 13,007 cases with BRCA1 or BRCA2 mutations. We identify robust novel associations for 2 variants with BC for BRCA1 and 3 for BRCA2 mutation carriers, P < 10−8, at 5 loci, which are not associated with risk in the general population. They include rs60882887 at 11p11.2 where MADD, SP11 and EIF1, genes previously implicated in BC biology, are predicted as potential targets. These findings will contribute towards customising BC polygenic risk scores for BRCA1 and BRCA2 mutation carriers

    Etude de l'hygroexpansion du carton plat par une méthode de corrélation d'images obtenues par MEB environnemental et microtomographie aux rayons X = Analysis of paperboard hygroexpansion by digital correlation of images obtained by ESEM and X-ray microtomography

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    National audienceLe carton plat est un matĂ©riau stratifiĂ©. Ses couches ont une structure anisotrope et sont formĂ©es par des fibres de bois issues de pĂątes Ă  papier de diffĂ©rents types. Au cours de sa transformation et de son utilisation, le carton plat est soumis Ă  des variations d'humiditĂ© relative de l'air ambiant. Celles-ci peuvent occasionner des problĂšmes de stabilitĂ© dimensionnelle telles que des pertes de planĂ©itĂ© du carton et une dĂ©cohĂ©sion de ses couches. Ce phĂ©nomĂšne est anisotrope. Assez bien dĂ©crit dans le plan, mais assez peu selon l'Ă©paisseur du carton, il est ici Ă©tudiĂ© au moyen d'outils classiques donnant accĂšs Ă  des coefficients d'hygroexpansion macroscopiques selon les directions d'anisotropie du carton. Une analyse, plus fine, par mĂ©thode de corrĂ©lation d'images, obtenues par MEB environnemental ou microtomographie aux rayons X au cours desquels l'humiditĂ© relative a Ă©tĂ© contrĂŽlĂ©e, a permis de dĂ©terminer les champs de dĂ©formation hygroscopiques au travers de l'Ă©paisseur du carton. Ceux-ci prĂ©sentent de fortes hĂ©tĂ©rogĂ©nĂ©itĂ©s qui peuvent ĂȘtre reliĂ©es Ă  une Ă©volution spĂ©cifique de la porositĂ© de certaines couches. Par ailleurs, il est possible de distinguer un comportement diffĂ©rent des couches selon la nature de leurs fibres, fonction des caractĂ©ristiques des pĂątes chimiques ou mĂ©caniques dont elles proviennent

    Microtomographie à rayons X et essais d'extraction pour caractériser les contacts fibre-fibre dans des composites à fibres courtes lors de leur mise en forme = X-ray microtomography and pull-out test to characterise fibre-fibre contacts in short fibre-reinforced composites during their processing

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    National audienceAu cours de leur mise en forme, les matériaux composites à matrice polymÚre renforcés par des fibres courtes tels que les SMC ou les GMT présentent un comportement rhéologique qui dépend trÚs fortement des interactions fibre-fibre se produisant lors de leur écoulement. Pour quantifier ces interactions, des essais d'extraction sont réalisés sur des matériaux composites modÚles dont la microstructure est contrÎlée et imite celles des matériaux industriels : le renfort fibreux constitue un squelette dans lequel les fibres sont fortement connectées les unes aux autres. Une analyse de microstructures à partir de clichés obtenus par microtomographie à rayons X montrent que les réseaux fibreux sont à orientation plane et que le nombre de contacts fibre-fibre par fibre est bien représenté par une approche statistique de type « tube model ». Les essais de pull-out ensuite réalisés montrent les fortes influences de la fraction volumique de fibres, de la vitesse et de la longueur d'extraction, et de la contrainte de confinement sur les forces d'extraction. Ces deux aspects permettent alors de mettre en place un modÚle de forces de contact

    Elongational behaviour of electrostatically stabilised and concentrated CNF and CNC hydrogels: Experiments and modelling

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    International audienceTEMPO-oxidized cellulose nanofibril (CNF) hydrogels or cellulose nanocrystal (CNC) hydrogels can now be obtained at high concentrations (>10 wt%) and used to fabricate biobased materials and structures. Thus, it is required to control and model their rheology in process-induced multiaxial flow conditions using 3D tensorial models. For that purpose, it is necessary to investigate their elongational rheology. Thus, concentrated TEMPO-oxidized CNF and CNC hydrogels were subjected to monotonic and cyclic lubricated compression tests followed by a relaxation. These tests revealed for the first time that the complex compression rheology of these two electrostatically stabilised hydrogels combines viscoelasticity and viscoplasticity. The effect of their nanofibre content and aspect ratio on their compression response was clearly emphasised and discussed. The ability of a non-linear elasto-viscoplastic model to reproduce the experiments was assessed. Even if some discrepancies were observed at low or high strain rates, the model was consistent with the experiments

    Rheology of concentrated and highly concentrated enzymatic cellulose nanofibril hydrogels during lubricated compression

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    International audienceProcessing cellulose nanofibril (CNF) hydrogels with a high concentration is a solution to reduce logistics costs and drying energy and to produce CNF-based materials with good dimensional stability. However, the rheology of concentrated and highly concentrated CNF hydrogels is poorly understood due to the difficulties to characterise them using standard shear rheometers. In this study, enzymatic CNF hydrogels in the concentrated and highly concentrated regimes (3–13.6 wt%) were subjected to lubricated compression at various strain rates. At low strains, compression curves exhibited a linear regime. At higher strains and low strain rates, a heterogeneous and marked hardening of stress levels was observed and accompanied with a two-phase flow with significant fluid segregation and network consolidation. At high strain rates, a homogeneous and incompressible one-phase plateau-like regime progressively established. In this regime, a yield stress was measured and compared with literature data, showing a good agreement with them
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