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282 results on '"Chevrant-Breton J"'

17. 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

23. 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

24. 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

27. [Positive photobiological investigation in Jessner's lymphocytic infiltration of the skin]

Author

Adamski H, Al, Labrousse, Sparsa A, Leonard F, Le Gall F, Labrousse F, Ollivier I, Jm, Bonnetblanc, Chevrant-Breton J, Bedane C, and Bernard P

Subjects
Adult, Male, Antimalarials, Ultraviolet Rays, Humans, Female, Lymphocytes, Photosensitivity Disorders, Skin Diseases
Abstract

Jessner's lymphocytic infiltration of the skin is a rare and benign disorder. Its clinical course is cyclic with remissions and exacerbations. In this disease, photosensitivity was previously noticed by authors and recently demonstrated. We report four new cases with positive photobiological investigation.Four patients (2 males, 2 females), with a mean age 36 years were seen with erythematous papules or discoid plaques on face, arms and upper trunk. The onset of disease occurred after sun exposure in summer. Skin biopsies showed perivascular lymphocytic infiltration in the dermis. All patients relapsed cyclically with incomplete healing during winter. Photobiological investigation elicited skin lesions in a broad spectrum of UV: UVB (2 cases), UVA (1 case), UVA and UVB (1 case). In all patients treatment with oral antimalarials and external photoprotection was effective.Our data suggest that photosensitivity history in patients with Jessner's lymphocytic infiltration of the skin should be searched for, and confirmed by provocative phototesting. This relevant event could guide the therapeutic strategy because antimalarials were effective for the Jessner's lymphocytic infiltration cases with photosensitivity.

Published
2003

28. 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

30. Epidermolysis bullosa simplex withPLECmutations: new phenotypes and new mutations

Author

Charlesworth, A., primary, Chiaverini, C., additional, Chevrant-Breton, J., additional, DelRio, M., additional, Diociaiuti, A., additional, Dupuis, R.P., additional, El Hachem, M., additional, Le Fiblec, B., additional, Sankari-Ho, A.M., additional, Valhquist, A., additional, Wierzbicka, E., additional, Lacour, J.P., additional, and Meneguzzi, G., additional

Published
2013
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31. Facteurs associés à une altération importante de la qualité de vie chez les patients adultes atteints d’ichtyose héréditaire

Author

Dreyfus, I., primary, Bourrat, E., additional, Maruani, A., additional, Bessis, D., additional, Chiavérini, C., additional, Bursztejn, A.-C., additional, Chevrant-Breton, J., additional, Maza, A., additional, Mallet, S., additional, Barbarot, S., additional, Vabres, P., additional, Ezzedine, K., additional, and Mazereeuw-Hautier, J., additional

Published
2012
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37. Xanthomes

Author

Adamski, H., primary, Bligny, D., additional, and Chevrant-Breton, J., additional

Published
2009
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50. P162 - Une plaie qui cicatrise mal

Author

Droitcourt, C., primary, De Barace, C., additional, Odent, S., additional, Le Gall, F., additional, Jouan, H., additional, Toulouse, P., additional, and Chevrant-Breton, J., additional

Published
2005
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