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796 results on '"Botella-Estrada, R"'

209. New common variants affecting susceptibility to basal cell carcinoma.

Author

Stacey, S.N., Sulem, P., Masson, G., Gudjonsson, S.A., Thorleifsson, G., Jakobsdottir, M., Sigurdsson, A., Gudbjartsson, D.F., Sigurgeirsson, B., Benediktsdottir, K.R., Thorisdottir, K., Ragnarsson, R., Scherer, D., Hemminki, K., Rudnai, P., Gurzau, E, Koppova, K., Botella-Estrada, R., Soriano, V., Juberias, P., Saez, B., Gilaberte, Y., Fuentelsaz, V., Corredera, C., Grasa, M., Hoiom, V., Lindblom, A., Bonenkamp, J.J., Rossum, M.M. van, Aben, K.K.H., Vries, E. de, Santinami, M., Mauro, M.G. Di, Maurichi, A., Wendt, J., Hochleitner, P., Pehamberger, H., Gudmundsson, J., Magnusdottir, D.N., Gretarsdottir, S., Holm, H., Steinthorsdottir, V., Frigge, M.L., Blondal, T., Saemundsdottir, J., Bjarnason, H., Kristjansson, K., Bjornsdottir, G., Okamoto, I., Rivoltini, L., Rodolfo, M., Kiemeney, L.A.L.M., Hansson, J., Nagore, E., Mayordomo, J.I., Kumar, R., Karagas, M.R., Nelson, H.H., Gulcher, J.R., Rafnar, T., Thorsteinsdottir, U., Olafsson, J.H., Kong, A., Stefansson, K., Stacey, S.N., Sulem, P., Masson, G., Gudjonsson, S.A., Thorleifsson, G., Jakobsdottir, M., Sigurdsson, A., Gudbjartsson, D.F., Sigurgeirsson, B., Benediktsdottir, K.R., Thorisdottir, K., Ragnarsson, R., Scherer, D., Hemminki, K., Rudnai, P., Gurzau, E, Koppova, K., Botella-Estrada, R., Soriano, V., Juberias, P., Saez, B., Gilaberte, Y., Fuentelsaz, V., Corredera, C., Grasa, M., Hoiom, V., Lindblom, A., Bonenkamp, J.J., Rossum, M.M. van, Aben, K.K.H., Vries, E. de, Santinami, M., Mauro, M.G. Di, Maurichi, A., Wendt, J., Hochleitner, P., Pehamberger, H., Gudmundsson, J., Magnusdottir, D.N., Gretarsdottir, S., Holm, H., Steinthorsdottir, V., Frigge, M.L., Blondal, T., Saemundsdottir, J., Bjarnason, H., Kristjansson, K., Bjornsdottir, G., Okamoto, I., Rivoltini, L., Rodolfo, M., Kiemeney, L.A.L.M., Hansson, J., Nagore, E., Mayordomo, J.I., Kumar, R., Karagas, M.R., Nelson, H.H., Gulcher, J.R., Rafnar, T., Thorsteinsdottir, U., Olafsson, J.H., Kong, A., and Stefansson, K.

Abstract

Contains fulltext : 81164.pdf (publisher's version ) (Closed access), In a follow-up to our previously reported genome-wide association study of cutaneous basal cell carcinoma (BCC), we describe here several new susceptibility variants. SNP rs11170164, encoding a G138E substitution in the keratin 5 (KRT5) gene, affects risk of BCC (OR = 1.35, P = 2.1 x 10(-9)). A variant at 9p21 near CDKN2A and CDKN2B also confers susceptibility to BCC (rs2151280[C]; OR = 1.19, P = 6.9 x 10(-9)), as does rs157935[T] at 7q32 near the imprinted gene KLF14 (OR = 1.23, P = 5.7 x 10(-10)). The effect of rs157935[T] is dependent on the parental origin of the risk allele. None of these variants were found to be associated with melanoma or fair-pigmentation traits. A melanoma- and pigmentation-associated variant in the SLC45A2 gene, L374F, is associated with risk of both BCC and squamous cell carcinoma. Finally, we report conclusive evidence that rs401681[C] in the TERT-CLPTM1L locus confers susceptibility to BCC but protects against melanoma.

Published
2009

210. Sequence variants at the TERT-CLPTM1L locus associate with many cancer types.

Author

Rafnar, T., Sulem, P., Stacey, S.N., Geller, F., Gudmundsson, J., Sigurdsson, A., Jakobsdottir, M., Helgadottir, H., Thorlacius, S., Aben, K.K.H., Blondal, T., Thorgeirsson, T.E., Thorleifsson, G., Kristjansson, K., Thorisdottir, K., Ragnarsson, R., Sigurgeirsson, B., Skuladottir, H., Gudbjartsson, T., Isaksson, H.J., Einarsson, G.V., Benediktsdottir, K.R., Agnarsson, B.A., Olafsson, K., Salvarsdottir, A., Bjarnason, H., Asgeirsdottir, M., Kristinsson, K.T., Matthiasdottir, S., Sveinsdottir, S.G., Polidoro, S., Hoiom, V., Botella-Estrada, R., Hemminki, K., Rudnai, P., Bishop, D.T., Campagna, M., Kellen, E., Zeegers, M.P., Verdier, P. de, Ferrer, A., Isla, D., Vidal, M.J., Andres, R., Saez, B., Juberias, P., Banzo, J., Navarrete, S., Tres, A., Kan, D., Lindblom, A., Gurzau, E, Koppova, K., Vegt, F. de, Schalken, J.A., Heijden, H.F.M. van der, Smit, H.J., Termeer, R.A., Oosterwijk, E., Hooij, O. van, Nagore, E., Porru, S., Steineck, G., Hansson, J., Buntinx, F., Catalona, W.J., Matullo, G., Vineis, P., Kiltie, A.E., Mayordomo, J.I., Kumar, R., Kiemeney, L.A.L.M., Frigge, M.L., Jonsson, T., Saemundsson, H., Barkardottir, R.B., Jonsson, E., Jonsson, S., Olafsson, J.H., Gulcher, J.R., Masson, G., Gudbjartsson, D.F., Kong, A., Thorsteinsdottir, U., Stefansson, K., Rafnar, T., Sulem, P., Stacey, S.N., Geller, F., Gudmundsson, J., Sigurdsson, A., Jakobsdottir, M., Helgadottir, H., Thorlacius, S., Aben, K.K.H., Blondal, T., Thorgeirsson, T.E., Thorleifsson, G., Kristjansson, K., Thorisdottir, K., Ragnarsson, R., Sigurgeirsson, B., Skuladottir, H., Gudbjartsson, T., Isaksson, H.J., Einarsson, G.V., Benediktsdottir, K.R., Agnarsson, B.A., Olafsson, K., Salvarsdottir, A., Bjarnason, H., Asgeirsdottir, M., Kristinsson, K.T., Matthiasdottir, S., Sveinsdottir, S.G., Polidoro, S., Hoiom, V., Botella-Estrada, R., Hemminki, K., Rudnai, P., Bishop, D.T., Campagna, M., Kellen, E., Zeegers, M.P., Verdier, P. de, Ferrer, A., Isla, D., Vidal, M.J., Andres, R., Saez, B., Juberias, P., Banzo, J., Navarrete, S., Tres, A., Kan, D., Lindblom, A., Gurzau, E, Koppova, K., Vegt, F. de, Schalken, J.A., Heijden, H.F.M. van der, Smit, H.J., Termeer, R.A., Oosterwijk, E., Hooij, O. van, Nagore, E., Porru, S., Steineck, G., Hansson, J., Buntinx, F., Catalona, W.J., Matullo, G., Vineis, P., Kiltie, A.E., Mayordomo, J.I., Kumar, R., Kiemeney, L.A.L.M., Frigge, M.L., Jonsson, T., Saemundsson, H., Barkardottir, R.B., Jonsson, E., Jonsson, S., Olafsson, J.H., Gulcher, J.R., Masson, G., Gudbjartsson, D.F., Kong, A., Thorsteinsdottir, U., and Stefansson, K.

Abstract

Contains fulltext : 81560.pdf (publisher's version ) (Closed access), The common sequence variants that have recently been associated with cancer risk are particular to a single cancer type or at most two. Following up on our genome-wide scan of basal cell carcinoma, we found that rs401681[C] on chromosome 5p15.33 satisfied our threshold for genome-wide significance (OR = 1.25, P = 3.7 x 10(-12)). We tested rs401681 for association with 16 additional cancer types in over 30,000 cancer cases and 45,000 controls and found association with lung cancer (OR = 1.15, P = 7.2 x 10(-8)) and urinary bladder, prostate and cervix cancer (ORs = 1.07-1.31, all P < 4 x 10(-4)). However, rs401681[C] seems to confer protection against cutaneous melanoma (OR = 0.88, P = 8.0 x 10(-4)). Notably, most of these cancer types have a strong environmental component to their risk. Investigation of the region led us to rs2736098[A], which showed stronger association with some cancer types. However, neither variant could fully account for the association of the other. rs2736098 corresponds to A305A in the telomerase reverse transcriptase (TERT) protein and rs401681 is in an intron of the CLPTM1L gene.

Published
2009

211. ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma.

Author

Gudbjartsson, D.F., Sulem, P., Stacey, S.N., Goldstein, A.M., Rafnar, T., Sigurgeirsson, B., Benediktsdottir, K.R., Thorisdottir, K., Ragnarsson, R., Sveinsdottir, S.G., Magnusson, V., Lindblom, A., Kostulas, K., Botella-Estrada, R., Soriano, V., Juberias, P., Grasa, M., Saez, B., Andres, R., Scherer, D., Rudnai, P., Gurzau, E, Koppova, K., Kiemeney, L.A.L.M., Jakobsdottir, M., Steinberg, S., Helgason, A., Gretarsdottir, S., Tucker, M.A., Mayordomo, J.I., Nagore, E., Kumar, R., Hansson, J., Olafsson, J.H., Gulcher, J.R., Kong, A., Thorsteinsdottir, U., Stefansson, K., Gudbjartsson, D.F., Sulem, P., Stacey, S.N., Goldstein, A.M., Rafnar, T., Sigurgeirsson, B., Benediktsdottir, K.R., Thorisdottir, K., Ragnarsson, R., Sveinsdottir, S.G., Magnusson, V., Lindblom, A., Kostulas, K., Botella-Estrada, R., Soriano, V., Juberias, P., Grasa, M., Saez, B., Andres, R., Scherer, D., Rudnai, P., Gurzau, E, Koppova, K., Kiemeney, L.A.L.M., Jakobsdottir, M., Steinberg, S., Helgason, A., Gretarsdottir, S., Tucker, M.A., Mayordomo, J.I., Nagore, E., Kumar, R., Hansson, J., Olafsson, J.H., Gulcher, J.R., Kong, A., Thorsteinsdottir, U., and Stefansson, K.

Abstract

Contains fulltext : 69041.pdf (publisher's version ) (Closed access), Fair color increases risk of cutaneous melanoma (CM) and basal cell carcinoma (BCC). Recent genome-wide association studies have identified variants affecting hair, eye and skin pigmentation in Europeans. Here, we assess the effect of these variants on risk of CM and BCC in European populations comprising 2,121 individuals with CM, 2,163 individuals with BCC and over 40,000 controls. A haplotype near ASIP, known to affect a similar spectrum of pigmentation traits as MC1R variants, conferred significant risk of CM (odds ratio (OR) = 1.45, P = 1.2 x 10(-9)) and BCC (OR = 1.33, P = 1.2 x 10(-6)). The variant in TYR encoding the R402Q amino acid substitution, previously shown to affect eye color and tanning response, conferred risk of CM (OR = 1.21, P = 2.8 x 10(-7)) and BCC (OR = 1.14, P = 6.1 x 10(-4)). An eye color variant in TYRP1 was associated with risk of CM (OR = 1.15, P = 4.6 x 10(-4)). The association of all three variants is robust with respect to adjustment for the effect of pigmentation.

Published
2008

229. Stewart-Bluefarb Syndrome

Author

Hueso, L., Llombart, B., Alfaro-Rubio, A., Serra-Guillén, C., Requena, C., González, M., Cano, B., Nagore, E., Sanmartín, O., Botella-Estrada, R., and Guillén, C.

Published
2007
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233. Síndrome de Stewart-Bluefarb

Author

Hueso, L., Llombart, B., Alfaro-Rubio, A., Serra-Guillén, C., Requena, C., González, M., Cano, B., Nagore, E., Sanmartín, O., Botella-Estrada, R., and Guillén, C.

Published
2007
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234. Eritema acral inducido por quimioterapia

Author

Hueso, L., primary, Sanmartín, O., additional, Nagore, E., additional, Botella-Estrada, R., additional, Requena, C., additional, Llombart, B., additional, Serra-Guillén, C., additional, Alfaro-Rubio, A., additional, and Guillén, C., additional

Published
2008
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238. Propuesta de protocolo para el informe histológico del tumor primario de los pacientes con un melanoma cutáneo del Grupo de Trabajo para el Melanoma Cutáneo de la Comunidad Valenciana

Author

Nagore, E., primary, Monteagudo, C., additional, Pinazo, M.I., additional, Botella-Estrada, R., additional, Oliver, V., additional, Bañuls, J., additional, Moragón, M., additional, Valcuende, F., additional, Calatrava, A., additional, Mayol-Belda, M.J., additional, Lázaro, R., additional, Niveiro, M., additional, and Guillén, C., additional

Published
2007
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240. Afectación de la mucosa oral por papulosis linfomatoide

Author

Serra-Guillén, C., primary, Requena, C., additional, Alfaro, A., additional, Hueso, L., additional, Sanmartín, O., additional, Llombart, B., additional, Nagore, E., additional, Botella-Estrada, R., additional, Martorell-Calatayud, A., additional, and Guillén, C., additional

Published
2007
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242. Histiocitoma fibroso epitelioide benigno

Author

Alfaro-Rubio, A., primary, Botella-Estrada, R., additional, Calatrava, A., additional, Requena, C., additional, Serra-Guillén, C., additional, Hueso, L., additional, Martorell, A., additional, Sanmartín, O., additional, Nagore, E., additional, Llombart, B., additional, and Guillén, C., additional

Published
2007
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247. Protocol Proposal for the Histological Report of the Primary Tumor in Patients with Cutaneous Melanoma From the Task Force for Cutaneous Melanoma of the Valencian Community

Author

Nagore, E., primary, Monteagudo, C., additional, Pinazo, M.I., additional, Botella-Estrada, R., additional, Oliver, V., additional, Bañuls, J., additional, Moragón, M., additional, Valcuende, F., additional, Calatrava, A., additional, Mayol-Belda, M.J., additional, Lázaro, R., additional, Niveiro, M., additional, and Guillén, C., additional

Published
2007
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248. Carcinoma adenoide quístico

Author

Alfaro-Rubio, A., primary, Sanmartín Jiménez, O., additional, Serra-Guillén, C., additional, Requena Caballero, C., additional, Hueso Gabriel, L., additional, Botella-Estrada, R., additional, Nagore Enguídanos, E., additional, Llombart Cussac, B., additional, and Guillén Barona, C., additional

Published
2006
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