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155 results on '"Boitier, F."'

1. Flexible entanglement-distribution network with an AlGaAs chip for secure communications

Author

Appas, F., Baboux, F., Amanti, M. I., Lemaître, A., Boitier, F., Diamanti, E., and Ducci, S.

Subjects
Quantum Physics, Condensed Matter - Mesoscale and Nanoscale Physics, Physics - Optics
Abstract

Quantum communication networks enable applications ranging from highly secure communication to clock synchronization and distributed quantum computing. Miniaturized, flexible, and cost-efficient resources will be key elements for ensuring the scalability of such networks as they progress towards large-scale deployed infrastructures. Here, we bring these elements together by combining an on-chip, telecom-wavelength, broadband entangled photon source with industry-grade flexible-grid wavelength division multiplexing techniques, to demonstrate reconfigurable entanglement distribution between up to 8 users in a resource-optimized quantum network topology. As a benchmark application we use quantum key distribution, and show low error and high secret key generation rates across several frequency channels, over both symmetric and asymmetric metropolitan-distance optical fibered links and including finite-size effects. By adapting the bandwidth allocation to specific network constraints, we also illustrate the flexible networking capability of our configuration. Together with the potential of our semiconductor source for distributing secret keys over a 60 nm bandwidth with commercial multiplexing technology, these results offer a promising route to the deployment of scalable quantum network architectures., Comment: 12 pages, 8 figures

Published
2021
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2. Exciton dynamics and non-linearities in 2D-hybrid organic perovskites

Author

Abdel-Baki, K., Boitier, F., Diab, H., Lanty, G., Jemli, K., Lédée, F., Garrot, D., Deleporte, E., and Lauret, J. S.

Subjects
Condensed Matter - Mesoscale and Nanoscale Physics
Abstract

Due to their high potentiality for photovoltaic applications or coherent light sources, a renewed interest in hybrid organic perovskites has emerged for few years. When they are arranged in two dimensions, these materials can be considered as hybrids quantum wells. One consequence of the unique structure of 2D hybrid organic perovskites is a huge exciton binding energy that can be tailored through chemical engineering. We present experimental investigations of the exciton nonlinearities by means of femtosecond pump-probe spectroscopy. The exciton dynamics is fitted with a bi-exponential decay with a free exciton life-time of ~100 ps. Moreover, an ultrafast intraband relaxation (< 150 fs) is also reported. Finally, the transient modification of the excitonic line is analysed through the momenta analysis and described in terms of reduction of the oscillator strength and linewidth broadening. We show that excitonic non-linearities in 2D hybrid organic perovskites share some behaviours of inorganic semiconductors despite their huge exciton binding energy.

Published
2015
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16. Exciton dynamics and non-linearities in two-dimensional hybrid organic perovskites.

Author

Abdel-Baki, K., Boitier, F., Diab, H., Lanty, G., Jemli, K., Lédée, F., Garrot, D., Deleporte, E., and Lauret, J. S.

Subjects
*EXCITON theory, *PEROVSKITE, *OXIDE minerals, *ELECTRON research, *SEMICONDUCTOR research
Abstract

Due to their high potentiality for photovoltaic applications or coherent light sources, a renewed interest in hybrid organic perovskites has emerged for few years. When they are arranged in two dimensions, these materials can be considered as hybrid quantum wells. One consequence of the unique structure of 2D hybrid organic perovskites is a huge exciton binding energy that can be tailored through chemical engineering. We present experimental investigations of the exciton non-linearities by means of femtosecond pump-probe spectroscopy. The exciton dynamics is fitted with a bi-exponential decay with a free exciton life-time of ~100 ps. Moreover, an ultrafast intraband relaxation (<150 fs) is also reported. Finally, the transient modification of the excitonic line is analyzed through the moment analysis and described in terms of reduction of the oscillator strength and linewidth broadening. We show that excitonic non-linearities in 2D hybrid organic perovskites share some behaviours of inorganic semiconductors despite their high exciton binding energy. [ABSTRACT FROM AUTHOR]

Published
2016
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23. Optical terabit transmitter and receiver based on passive polymer and InP technology for high-speed optical connectivity between datacenters

Author

Katopodis, V., Tsokos, C., De Felipe, D., Spyropoulou, M., Konczykowska, A., Aimone, A., Groumas, P., Dupuy, J. Y., Jorge, F., Mardoyan, H., Rios-Müller, R., Renaudier, J., Jennevé, P., Boitier, F., Pagano, A., Quagliotti, M., Roccato, D., Johansen, T. K., Tienforti, M., Vannucci, A., Bach, H. G., Keil, N., Avramopoulos, H., Kouloumentas, Ch, Katopodis, V., Tsokos, C., De Felipe, D., Spyropoulou, M., Konczykowska, A., Aimone, A., Groumas, P., Dupuy, J. Y., Jorge, F., Mardoyan, H., Rios-Müller, R., Renaudier, J., Jennevé, P., Boitier, F., Pagano, A., Quagliotti, M., Roccato, D., Johansen, T. K., Tienforti, M., Vannucci, A., Bach, H. G., Keil, N., Avramopoulos, H., and Kouloumentas, Ch

Abstract

We demonstrate the hybrid integration of a multi-format tunable transmitter and a coherent optical receiver based on optical polymers and InP electronics and photonics for next generation metro and core optical networks. The transmitter comprises an array of two InP Mach-Zehnder modulators (MZMs) with 42 GHz bandwidth and two passive PolyBoards at the back- and front-end of the device. The back-end PolyBoard integrates an InP gain chip, a Bragg grating and a phase section on the polymer substrate capable of 22 nm wavelength tunability inside the C-band and optical waveguides that guide the light to the inputs of the two InP MZMs. The front-end PolyBoard provides the optical waveguides for combing the In-phase and Quadrature-phase modulated signals via an integrated thermo-optic phase shifter for applying the pi/2 phase-shift at the lower arm and a 3-dB optical coupler at the output. Two InP-double heterojunction bipolar transistor (InP-DHBT) 3-bit power digital-to-analog converters (DACs) are hybridly integrated at either side of the MZM array chip in order to drive the IQ transmitter with QPSK, 16-QAM and 64-QAM encoded signals. The coherent receiver is based on the other side on a PolyBoard, which integrates an InP gain chip and a monolithic Bragg grating for the formation of the local oscillator laser, and a monolithic 90° optical hybrid. This PolyBoard is further integrated with a 4-fold InP photodiode array chip with more than 80 GHz bandwidth and two high-speed InP-DHBT transimpedance amplifiers (TIAs) with automatic gain control. The transmitter and the receiver have been experimentally evaluated at 25Gbaud over 100 km for mQAM modulation showing bit-error-rate (BER) performance performance below FEC limit.

Published
2018

24. Autonomic transmission through pre-FEC BER degradation prediction based on SOP monitoring

Author

Universitat Politècnica de Catalunya. Departament d'Arquitectura de Computadors, Universitat Politècnica de Catalunya. GCO - Grup de Comunicacions Òptiques, Shariati, Mohammad Behnam, Boitier, F., Ruiz Ramírez, Marc, Layec, Patricia, Velasco Esteban, Luis Domingo, Universitat Politècnica de Catalunya. Departament d'Arquitectura de Computadors, Universitat Politècnica de Catalunya. GCO - Grup de Comunicacions Òptiques, Shariati, Mohammad Behnam, Boitier, F., Ruiz Ramírez, Marc, Layec, Patricia, and Velasco Esteban, Luis Domingo

Abstract

An Autonomic Transmission Agent based on machine-learning is proposed for excessive bit-error-rate prediction resulting from real-time analysis of state-of-polarization (SOP). The accuracy and speed of the agent enables its use for local and remote transceiver reconfiguration., Peer Reviewed, Postprint (published version)

Published
2018

25. Functional characterization of a multi-cancer risk locus on chr5p15.33 reveals regulation of TERT by ZNF148

Author

Fang, J, Jia, J, Makowski, M, Xu, M, Wang, Z, Zhang, T, Hoskins, Jw, Choi, J, Han, Y, Zhang, M, Thomas, J, Kovacs, M, Collins, I, Dzyadyk, M, Thompson, A, O'Neill, M, Das, S, Lan, Q, Koster, R, Solomon, Rs, Kraft, P, Wolpin, Bm, Jansen, Pwtc, Olson, S, Mcglynn, Ka, Kanetsky, Pa, Chatterjee, N, Barrett, Jh, Dunning, Am, Taylor, Jc, Newton Bishop, Ja, Bishop, Dt, Andresson, T, Petersen, Gm, Amos, Ci, Iles, Mm, Nathanson, Kl, Landi, Mt, Vermeulen, M, Brown, Km, Amundadottir, Lt, Canzian, F, Kooperberg, C, Arslan, Aa, Bracci, Pm, Buring, J, Duell, Ej, Gallinger, S, Jacobs, Ej, Kamineni, A, Van Den Eeden, S, Klein, Ap, Kolonel, Ln, Li, D, Olson, Sh, Risch, Ha, Sesso, Hd, Visvanathan, K, Zheng, W, Albanes, D, Austin, Ma, Boutron Ruault, Mc, Bueno de Mesquita, Hb, Cotterchio, M, Gaziano, Jm, Giovannucci, El, Goggins, M, Gross, M, Hassan, M, Helzlsouer, Kj, Holly, Ea, Hunter, Dj, Jenab, M, Kaaks, R, Key, Tj, Khaw, Kt, Krogh, V, Kurtz, Rc, Lacroix, A, Le Marchand, L, Mannisto, S, Patel, Av, Peeters, Phm, Riboli, E, Shu, Xo, Sund, M, Thornquist, M, Tjønneland, A, Tobias, Gs, Trichopoulos, D, Wactawski Wende, J, Yu, H, Yu, K, Zeleniuch Jacquotte, A, Hoover, R, Hartge, P, Fuchs, C, Chanock, Sj, Stevens, V, Caporaso, Ne, Brennan, P, Mckay, J, Wu, X, Hung, Rj, Mclaughlin, Jr, Bickeboller, H, Risch, A, Wichmann, E, Houlston, R, Mann, G, Hopper, J, Aitken, J, Armstrong, B, Giles, G, Holland, E, Kefford, R, Cust, A, Jenkins, M, Schmid, H, Puig, S, Aguilera, P, Badenas, C, Barreiro, A, Carrera, C, Gabriel, D, Xavier, Pg, Iglesias Garcia, P, Malvehy, J, Mila, M, Pigem, R, Potrony, M, Batille, Ja, Marti, Gt, Hayward, N, Martin, N, Montgomery, G, Duffy, D, Whiteman, D, Gregor, Sm, Calista, D, Landi, G, Minghetti, P, Arcangeli, F, Bertazzi, Pa, Ghiorzo, Paola, Bianchi, Giovanna, Pastorino, Lorenza, Bruno, William, Andreotti, Virginia, Queirolo, P, Spagnolo, Francesco, Mackie, R, Lang, J, Gruis, N, van Nieuwpoort, Fa, Out, C, Bergman, W, Kukutsch, N, Bavinck, Jnb, Bakker, B, van der Stoep, N, Ter Huurne, J, van der Rhee, H, Bekkenk, M, Snels, D, van Praag, M, Brochez, L, Gerritsen, R, Crijns, M, Vasen, H, Janssen, B, Ingvar, C, Olsson, H, Jonsson, G, Borg, A, Harbst, K, Nielsen, K, Zander, As, Molvern, A, Helsing, P, Andresen, Pa, Rootwelt, H, Akslen, La, Bressac de Paillerets, B, Demenais, F, Avril, Mf, Chaudru, V, Jeannin, P, Lesueur, F, Maubec, E, Mohamdi, H, Bossard, M, Vaysse, A, Boitier, F, Caron, O, Caux, F, Dalle, S, Dereure, O, Leroux, D, Martin, L, Mateus, C, Robert, C, Stoppa Lyonnet, D, Thomas, L, Wierzbicka, E, Elder, D, Ming, M, Mitra, N, Debniak, T, Lubinski, J, Hocevar, M, Novakovic, S, Peric, B, Skerl, P, Hansson, J, Hoiom, V, Freidman, E, Azizi, E, Baron Epel, O, Scope, A, Pavlotsky, F, Cohen Manheim, I, Laitman, Y, Harland, M, Randerson Moor, J, Laye, J, Davies, J, Nsengimana, J, O'Shea, S, Chan, M, Gascoyne, J, Tucker, Ma, Goldstein, Am, and Yang, X. r.

Subjects
0301 basic medicine, Male, Lung Neoplasms, Skin Neoplasms, General Physics and Astronomy, Genome-wide association study, VARIANTS, Histones, Skin cancer, RNA, Small Interfering, Melanoma, Telomerase, GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries), Pancreas cancer, Regulation of gene expression, Genetics, Zinc finger, Gene knockdown, Multidisciplinary, Proteomics and Chromatin Biology, TRICL Consortium, Chromosome Mapping, GenoMEL Consortium, PANCREATIC-CANCER, Multidisciplinary Sciences, DNA-Binding Proteins, Gene Expression Regulation, Neoplastic, Science & Technology - Other Topics, Chromosomes, Human, Pair 5, Female, Lung cancer, Signal Transduction, SUSCEPTIBILITY LOCI, Science, Locus (genetics), Single-nucleotide polymorphism, PROMOTES GROWTH, Biology, Polymorphism, Single Nucleotide, Article, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, LUNG-CANCER, Testicular Neoplasms, Cell Line, Tumor, MD Multidisciplinary, Humans, Genetic Predisposition to Disease, QUANTITATIVE PROTEOMICS, GENOME-WIDE ASSOCIATION, Gene, PanScan Consortium, Càncer de pell, Càncer de pàncrees, Alleles, Science & Technology, Kirurgi, HUMAN-CELLS, Telomere Homeostasis, Correction, General Chemistry, Molecular biology, TERT-CLPTM1L LOCUS, Telomere, Pancreatic Neoplasms, 030104 developmental biology, Genetic Loci, TELOMERE LENGTH, Càncer de pulmó, Surgery, Genètica, Genome-Wide Association Study, Transcription Factors
Abstract

Genome wide association studies (GWAS) have mapped multiple independent cancer susceptibility loci to chr5p15.33. Here, we show that fine-mapping of pancreatic and testicular cancer GWAS within one of these loci (Region 2 in CLPTM1L) focuses the signal to nine highly correlated SNPs. Of these, rs36115365-C associated with increased pancreatic and testicular but decreased lung cancer and melanoma risk, and exhibited preferred protein-binding and enhanced regulatory activity. Transcriptional gene silencing of this regulatory element repressed TERT expression in an allele-specific manner. Proteomic analysis identifies allele-preferred binding of Zinc finger protein 148 (ZNF148) to rs36115365-C, further supported by binding of purified recombinant ZNF148. Knockdown of ZNF148 results in reduced TERT expression, telomerase activity and telomere length. Our results indicate that the association with chr5p15.33-Region 2 may be explained by rs36115365, a variant influencing TERT expression via ZNF148 in a manner consistent with elevated TERT in carriers of the C allele., Genetic variants at multiple loci of chr5p15.33 have been associated with susceptibility to numerous cancers. Here the authors show that the association of one of these loci may be explained by a variant, rs36115365, influencing telomerase reverse transcriptase (TERT) expression via ZNF148.

Published
2017

26. Faciliter et sécuriser la prise en charge des cancers cutanés en ville en Île-de-France avec OncoDerm

Author

Ollivaud, L., primary, Gautier, M.S., additional, Ortoli, J.C., additional, Servy, A., additional, Thomas, M., additional, Karkouche, R., additional, Boitier, F., additional, Moguelet, P., additional, Dallot, A., additional, Laurent Roussel, S., additional, Cothier Savey, I., additional, Alamdari, A., additional, Karcenty, B., additional, and Dunet, E., additional

Published
2018
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29. Field trial evaluation and SDN configurability of an Optical Terabit Transmitter Based on Passive Polymer and InP Technology

Author

Pagano, A., primary, Katopodis, V., additional, Tsokos, C., additional, Mardoyan, H., additional, Morro, R., additional, PerceIsi, A., additional, Roccato, D., additional, De FeIipe, D., additional, Jorge, F., additional, SpyropouIou, M., additional, Groumas, P., additional, Jenneve, P., additional, Boitier, F., additional, Tienforti, M., additional, Annoni, A., additional, and AvramopouIos, H., additional

Published
2018
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30. Erratum: A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma (Nature (2011) 480:94-98 doi:10.1038/nature10539)

Author

Bertolotto, C., Lesueur, F., Giuliano, S., Strub, T., De Lichy, M., Bille, K., Dessen, P., D'Hayer, B., Mohamdi, H., Remenieras, A., Maubec, E., De La Fouchardiere, A., Molinie, V., Vabres, P., Dalle, S., Poulalhon, N., Martin-Denavit, T., Thomas, L., Andry-Benzaquen, P., Dupin, N., Boitier, F., Rossi, A., Perrot, J. -L., Labeille, B., Robert, C., Escudier, B., Caron, O., Brugieres, L., Saule, S., Gardie, B., Gad, S., Richard, S., Couturier, J., Teh, B. T., Ghiorzo, P., Pastorino, L., Puig, S., Badenas, C., Olsson, H., Ingvar, C., Rouleau, E., Lidereau, R., Bahadoran, P., Vielh, P., Corda, E., Blanche, H., Zelenika, D., Galan, P., Chaudru, V., Lenoir, G. M., Lathrop, M., Davidson, I., Avril, M. -F., Demenais, F., Ballotti, R., and Bressac-De Paillerets, B.

Published
2016

31. Genome-wide association study identifies novel loci predisposing to cutaneous melanoma†

Author

Amos, Ci, Wang, Le, Lee, Je, Gershenwald, Je, Chen, Wv, Fang, S, Kosoy, R, Zhang, M, Qureshi, Aa, Vattathil, S, Schacherer, Cw, Gardner, Jm, Wang, Y, Bishop, Dt, Barrett, Jh, Macgregor, S, Hayward, Nk, Martin, Ng, Duffy, Dl, Mann, Gj, Cust, A, Hopper, J, Brown, Km, Grimm, Ea, Xu, Y, Han, Y, Jing, K, Mchugh, C, Laurie, Cc, Doheny, Kf, Pugh, Ew, Seldin, Mf, Han, J, Wei, Q, Genomel, Investigators, Mega Investigators, Q., AMFS Investigators Mann GJ, Hopper, Jl, Aitken, Jf, Armstrong, Bk, Giles, Gg, Kefford, Rf, Cust, Ae, Jenkins, Ma, Schmid, H, Aguilera, P, Badenas, C, Carrera, C, Cuellar, F, Gabriel, D, Martinez, E, Gonzalez, M, Iglesias, P, Malvehy, J, Marti Laborda, R, Mila, M, Ogbah, Z, Butille, Ja, Puig, S, Alós, L, Arance, A, Arguís, P, Campo, A, Castel, T, Conill, C, Palou, J, Rull, R, Sánchez, M, Vidal Sicart, S, Vilalta, A, Vilella, R, Montgomery, Gw, Whiteman, Dc, Whiteman, D, Webb, P, Green, A, Parsons, P, Purdie, D, Hayward, N, Landi, Mt, Calista, D, Landi, G, Minghetti, P, Arcangeli, F, Bertazzi, Pa, Bianchi, Giovanna, Ghiorzo, Paola, Pastorino, Lorenza, Bruno, William, Battistuzzi, Linda, Gargiulo, Sara, Nasti, Sabina, Gliori, S, Origone, Paola, Andreotti, V, Queirolo, P, Mackie, R, Lang, J, Bishop, Ja, Affleck, P, Harrison, J, Iles, Mm, Randerson Moor, J, Harland, M, Taylor, Jc, Whittaker, L, Kukalizch, K, Leake, S, Karpavicius, B, Haynes, S, Mack, T, Chan, M, Taylor, Y, Davies, J, King, P, Gruis, Na, van Nieuwpoort FA, Out, C, van der Drift, C, Bergman, W, Kukutsch, N, Bavinck, Jn, Bakker, B, van der Stoep, N, ter Huurne, J, van der Rhee, H, Bekkenk, M, Snels, D, van Praag, M, Brochez, L, Gerritsen, R, Crijns, M, Vasen, H, Olsson, H, Ingvar, C, Jönsson, G, Borg, Å, Måsbäck, A, Lundgren, L, Baeckenhorn, K, Nielsen, K, Casslén, As, Helsing, P, Andresen, Pa, Rootwelt, H, Akslen, La, Molven, A, Avril, Mf, Bressac de Paillerets, B, Chaudru, V, Chateigner, N, Corda, E, Jeannin, P, Lesueur, F, de Lichy, M, Maubec, E, Mohamdi, H, Demenais, F, Andry Benzaquen, P, Bachollet, B, Bérard, F, Berthet, P, Boitier, F, Bonadona, V, Bonafé, Jl, Bonnetblanc, Jm, Cambazard, F, Caron, O, Caux, F, Chevrant Breton, J, Chompret, A, Dalle, S, Demange, L, Dereure, O, Doré, Mx, Doutre, Ms, Dugast, C, Faivre, L, Grange, F, Humbert, P, Joly, P, Kerob, D, Lasset, C, Leccia, Mt, Lenoir, G, Leroux, D, Levang, J, Lipsker, D, Mansard, S, Martin, L, Martin Denavit, T, Mateus, C, Michel, Jl, Morel, P, Olivier Faivre, L, Perrot, Jl, Robert, C, Ronger Savle, S, Sassolas, B, Souteyrand, P, Stoppa Lyonnet, D, Thomas, L, Vabres, P, Wierzbicka, E, Elder, D, Kanetsky, P, Knorr, J, Ming, M, Mitra, N, Ruffin, A, Van Belle, P, Debniak, T, Lubiński, J, Mirecka, A, Ertmański, S, Novakovic, S, Hocevar, M, Peric, B, Cerkovnik, P, Höiom, V, Hansson, J, Holland, Ea, Azizi, E, Galore Haskel, G, Friedman, E, Baron Epel, O, Scope, A, Pavlotsky, F, Yakobson, E, Cohen Manheim, I, Laitman, Y, Milgrom, R, Shimoni, I, and Kozlovaa, E.

Subjects
Genetic Markers, Candidate gene, Skin Neoplasms, Ubiquitin-Protein Ligases, Locus (genetics), Single-nucleotide polymorphism, Genome-wide association study, Biology, Polymorphism, Single Nucleotide, 03 medical and health sciences, 0302 clinical medicine, Meta-Analysis as Topic, Genetics, Eye color, Guanine Nucleotide Exchange Factors, Humans, SNP, Genetic Predisposition to Disease, Melanoma, Molecular Biology, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Pigmentation, Association Studies Articles, General Medicine, 3. Good health, Chromosomes, Human, Pair 1, Genetic Loci, Genetic marker, Case-Control Studies, 030220 oncology & carcinogenesis, Cutaneous melanoma, Genome-Wide Association Study
Abstract

We performed a multistage genome-wide association study of melanoma. In a discovery cohort of 1804 melanoma cases and 1026 controls, we identified loci at chromosomes 15q13.1 (HERC2/OCA2 region) and 16q24.3 (MC1R) regions that reached genome-wide significance within this study and also found strong evidence for genetic effects on susceptibility to melanoma from markers on chromosome 9p21.3 in the p16/ARF region and on chromosome 1q21.3 (ARNT/LASS2/ANXA9 region). The most significant single-nucleotide polymorphisms (SNPs) in the 15q13.1 locus (rs1129038 and rs12913832) lie within a genomic region that has profound effects on eye and skin color; notably, 50% of variability in eye color is associated with variation in the SNP rs12913832. Because eye and skin colors vary across European populations, we further evaluated the associations of the significant SNPs after carefully adjusting for European substructure. We also evaluated the top 10 most significant SNPs by using data from three other genome-wide scans. Additional in silico data provided replication of the findings from the most significant region on chromosome 1q21.3 rs7412746 (P = 6 × 10(-10)). Together, these data identified several candidate genes for additional studies to identify causal variants predisposing to increased risk for developing melanoma.

Published
2011
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38. The contribution of large genomic deletions at the CDKN2A locus to the burden of familial melanoma

Author

Lesueur, F., de Lichy, M., Barrois, M., Durand, Geoffroy, Bombled, J., Avril, M-F, Chompret, A., Boitier, F., Group French Familial Melanoma, Study, Bressac- de Paillerets, Brigitte, Baccard, M., Bachollet, B., Berthet, P., Bonadona, Valérie, Bonnetblanc, Jean-Marie, Lenoir, G.M., Service de génétique, Institut Gustave Roussy (IGR), Variabilité Génétique et Maladies Humaines, Institut Universitaire d'Hématologie (IUH), Université Paris Diderot - Paris 7 (UPD7)-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Biostatistiques santé, Département biostatistiques et modélisation pour la santé et l'environnement [LBBE], Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS), Equipe de Recherche Médicale Appliquée (ERMA), Université de Limoges (UNILIM)-CHU Limoges-Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST FR CNRS 3503), and Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST FR CNRS 3503)-Université de Limoges (UNILIM)-CHU Limoges

Subjects
[SDV.OT]Life Sciences [q-bio]/Other [q-bio.OT]
Abstract

ERMA

Published
2008

39. A comparison of CDKN2A mutation detection within the Melanoma Genetics Consortium (GenoMEL)

Author

Harland, M, Goldstein, Am, Kukalizch, K, Taylor, C, Hogg, D, Puig, S, Badenas, C, Gruis, N, TER HUURNE, J, Bergman, W, Hayward, Nk, Stark, M, Tsao, H, Tucker, Ma, Landi, Mt, Bianchi, Giovanna, Ghiorzo, Paola, Kanetsky, Pa, Elder, D, Mann, Gj, Holland, Ea, Bishop, Dt, NEWTON BISHOP, J, Malvehy, J., Badenas, C., Cervera, R., Francisco, Cuellar, Rosa, Marti, JOAN BRUNET VIDAL, Guang, Yang, Nicholas, Martin, David, Whiteman, Adele, Green, Joanne, Aitken, Paola, Minghetti, Michela, Mantelli, Pastorino, Lorenza, Nasti, Sabina, Gargiulo, Sara, Sara, Gliori, Sushila, Mistry, JULIETTE RERSON MOOR, Wilma, Bergman, TER HUURNE, JEANET A. C., CLASINE VAN DER DRIFT, LENY VAN MOURIK, COBY OUT LUITING, FRANS VAN NIEUWPOORT, Valerie, Chaudru, Agnes, Chompret, Caroline, Kanengiesser, Michel, J. L., Grange, F., Sassolas, B., Limacher, J. M., Couillet, D., Truchetet, F., Cesarini, J. P., Boitier, F., CHEVRANT BRETON, J., Lasset, C., Longy, M., Joly, P., BASSET SEGUIN, N., Lesimple, T., Dugast, C., Michael, Ming, PATRICIA VAN BELLE, Anton, Platz, Suzanne, Egyhazi, Rainer, Tuominen, Diana, Linden, Helen, Schmid, Alon, Scope, Felix, Pavlotsky, Eitan, Friedman, and Mark, Eliason

Subjects
Genetics, Cancer Research, Polymorphism, Genetic, Skin Neoplasms, Genes, p16, Melanoma, Cancer, Biology, medicine.disease, Article, Denaturing high performance liquid chromatography, Germline mutation, Oncology, CDKN2A, Genotype, medicine, Humans, Genetic Predisposition to Disease, Genetic variability, Gene, Chromatography, High Pressure Liquid, Germ-Line Mutation
Abstract

CDKN2A is the major melanoma susceptibility gene so far identified, but only 40% of three or more case families have identified mutations. A comparison of mutation detection rates was carried out by "blind" exchange of samples across GenoMEL, the Melanoma Genetics Consortium, to establish the false negative detection rates. Denaturing high performance liquid chromatography (DHPLC) screening results from 451 samples were compared to screening data from nine research groups in which the initial mutation screen had been done predominantly by sequencing. Three samples with mutations identified at the local centres were not detected by the DHPLC screen. No additional mutations were detected by DHPLC. Mutation detection across groups within GenoMEL is carried out to a consistently high standard. The relatively low rate of CDKN2A mutation detection is not due to failure to detect mutations and implies the existence of other high penetrance melanoma susceptibility genes.

Published
2008

40. Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma‐prone families from three continents

Author

Goldstein, A. M., Chan, M., Harland, M., Hayward, N. K., Demenais, F., Bishop, D. T., Azizi, E., Bergman, W., Bianchi, Giovanna, Bruno, William, Calista, D., CANNON ALBRIGHT, L. A., Chaudru, V., Chompret, A., Cuellar, F., Elder, D. E., Ghiorzo, Paola, Gillanders, E. M., Gruis, N. A., Jhansson, Dhogg, Holland, E. A., Kanetsky, PETER A., Kefford, R. F., Landi, Mt, Lang, Ju, Leachman, S. A., Mackie, R. M., Magnusson, V., Mann, G. J., NEWTON BISHOP, J., Palmer, J. M., Spuig, PUIG BUTILLE, J. A., Stark, M., Tsao, H., Tucker, M. A., Whitaker, L., Yakobson, E., Malvehy, J., Badenas, C., Cervera, R., Francisco, Cuellar, Rosa, Marti´, JOAN BRUNET VIDAL, Guang, Yang, Nicholas, Martin, David, Whiteman, Adele, Green, Joanne, Aitken, Paola, Minghetti, Mantelli, Michela, Pastorino, Lorenza, Nasti, Sabina, Gargiulo, Sara, Sara, Gliori, Sushila, Mistry, JULIETTE RANDERSON MOOR, Wilma, Bergman, TER HUURNE, JEANET A. C., CLASINE VAN DER DRIFT, LENY VAN MOURIK, COBY OUT LUITING, FRANS VAN NIEUWPOORT, Valerie, Chaudru, Agnes, Chompret, Caroline, Kanengiesser, Michel, J. L., Grange, F., Sassolas, B., Limacher, J. M., Couillet, D., Truchetet, F., Cesarini, J. P., Boitier, F., CHEVRANT BRETON, J., Lasset, C., Longy, M., Joly, P., BASSET SEGUIN, N., Lesimple, T., Dugast, C., Arupa, Ganguly, Michael, Ming, PATRICIA VAN BELLE, Anton, Platz, Suzanne, Egyhazi, Rainer, Tuominen, Diana, Linden, Helen, Schmid, Alon, Scope, Felix, Pavlotsky, Eitan, Friedman, and Mark, Eliason

Subjects
Male, medicine.medical_specialty, Skin Neoplasms, Biology, medicine.disease_cause, Germline mutation, CDKN2A, Genetic variation, Genetics, medicine, Humans, Hereditary Melanoma, neoplasms, Melanoma, Genetics (clinical), Cyclin-Dependent Kinase Inhibitor p16, Germ-Line Mutation, Mutation, Incidence (epidemiology), Incidence, Australia, Genetic Variation, medicine.disease, Europe, North America, Medical genetics, Original Article, Female, Demography
Abstract

BACKGROUND: The major factors individually reported to be associated with an increased frequency of CDKN2A mutations are increased number of patients with melanoma in a family, early age at melanoma diagnosis, and family members with multiple primary melanomas (MPM) or pancreatic cancer. METHODS: These four features were examined in 385 families with > or =3 patients with melanoma pooled by 17 GenoMEL groups, and these attributes were compared across continents. RESULTS: Overall, 39% of families had CDKN2A mutations ranging from 20% (32/162) in Australia to 45% (29/65) in North America to 57% (89/157) in Europe. All four features in each group, except pancreatic cancer in Australia (p = 0.38), individually showed significant associations with CDKN2A mutations, but the effects varied widely across continents. Multivariate examination also showed different predictors of mutation risk across continents. In Australian families, > or =2 patients with MPM, median age at melanoma diagnosis or =6 patients with melanoma in a family jointly predicted the mutation risk. In European families, all four factors concurrently predicted the risk, but with less stringent criteria than in Australia. In North American families, only > or =1 patient with MPM and age at diagnosis < or =40 years simultaneously predicted the mutation risk. CONCLUSIONS: The variation in CDKN2A mutations for the four features across continents is consistent with the lower melanoma incidence rates in Europe and higher rates of sporadic melanoma in Australia. The lack of a pancreatic cancer-CDKN2A mutation relationship in Australia probably reflects the divergent spectrum of mutations in families from Australia versus those from North America and Europe. GenoMEL is exploring candidate host, genetic and/or environmental risk factors to better understand the variation observed.

Published
2006

42. Biopsie du ganglion sentinelle et carcinome de Merkel : une série de 87 patients

Author

Maubec, E., primary, Servy, A., additional, Boitier, F., additional, Sugier, P.-E., additional, Grange, F., additional, Mansard, S., additional, Lesimple, T., additional, Couturaud, B., additional, Albert, S., additional, Sastre, X., additional, Marinho, E., additional, Carlotti, A., additional, Deschamps, L., additional, Girod, A., additional, Kassouma, J., additional, Blom, A., additional, Dupin, N., additional, Crickx, B., additional, and Avril, M.-F., additional

Published
2014
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44. Sporadic multiple primary melanoma cases: CDKN2A germline mutations with a founder effect

Author

Auroy, S., Avril, Marie-Françoise, Chompret, A., Pham, D., Goldstein, A.M., Bianchi-Scarra, G., Frebourg, T., Joly, Pascal, Spatz, A., Rubino, C., Demenais, F., Bressac-De Paillerets, Brigitte, Berard, F., Blanc, J.F., Boitier, F., Bonnetblanc, J.M., Caux, F., Cesarini, J.P., Chevrant-Breton, J., Demange, L., Esteve, E., Frenay, M., Grange, F., Guillot, B., D'Incan, M., Lasset, Christine, Le Corvaisier-Pieto, C., Longy, M., Michel, J.L., Saiag, P., Sassolas, B., Triller, R., Vabres, P., Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS), Biostatistiques santé, Département biostatistiques et modélisation pour la santé et l'environnement [LBBE], Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), and Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE)

Subjects
[SDV.OT]Life Sciences [q-bio]/Other [q-bio.OT]
Published
2001

46. Mélanome : relation entre la présence de mutations somatiques du gène BRAF et l’âge et/ou les constantes anthropométriques

Author

Maubec, E., primary, Geay, M., additional, El Zein, S., additional, Régnier-Rosencher, E., additional, Fite, C., additional, Boitier, F., additional, di Lucca, J., additional, Kalampokas, N., additional, Kramkimel, N., additional, Carlotti, A., additional, Deschamps, L., additional, Sastre-Garau, X., additional, Marinho, E., additional, North, M.-O., additional, Lamoril, J., additional, Crickx, B., additional, Dupin, N., additional, and Avril, M.-F., additional

Published
2012
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47. Mélanome familial : l’âge jeune au diagnostic du mélanome et la survenue de mélanomes primitifs multiples sont des facteurs prédictifs de mutations de CDKN2A dans les familles à deux cas

Author

Maubec, E., primary, Chaudru, V., additional, Mohamdi, H., additional, Blondel, C., additional, Jeannin, P., additional, Forget, S., additional, Corda, E., additional, Boitier, F., additional, Dalle, S., additional, Vabres, P., additional, Perrot, J.-L., additional, Stoppa-Lyonnet, D., additional, Zattara, H., additional, Mansard, S., additional, Grange, F., additional, Leccia, M.-T., additional, Vincent-Fetita, L., additional, Martin, L., additional, Crickx, B., additional, Joly, P., additional, Thomas, L., additional, Bressac-de-Paillerets, B., additional, Avril, M.-F., additional, and Demenais, F., additional

Published
2012
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