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1. Clinical practice guideline on melanoma from the Spanish Academy of Dermatology and Venereology (AEDV)

Author

Universidad de Sevilla. Departamento de Medicina, Botella-Estrada, R., Boada-García, A., Carrera-Álvarez, C., Fernández-Figueras, M., González-Cao, M., Moreno Ramírez, David, García-Doval, I., Universidad de Sevilla. Departamento de Medicina, Botella-Estrada, R., Boada-García, A., Carrera-Álvarez, C., Fernández-Figueras, M., González-Cao, M., Moreno Ramírez, David, and García-Doval, I.

Abstract

Specialist approaches to the diagnosis and treatment of melanoma have undergone many changes. This guideline aims to provide Spanish dermatologists with evidence-based information for resolving the most common doubts that arise in clinical practice. Members of the Spanish Oncologic Dermatology and Surgery Group (GEDOC) with experience treating melanoma were invited to participate in drafting the guideline. The group developed a new guideline on the basis of existing ones, using the ADAPTE collaboration process, first summarizing the care process and posing relevant clinical questions, then selecting guidelines with the best scores according to the AGREE II (Appraisal of Guidelines for Research and Evaluation) tool. Finally, the group searched the selected guidelines for answers to the clinical questions, drafted recom-mendations, and sent them for external review. The guideline is structured around 21 clinicalquestions chosen for their relevance to issues that make clinical decisions about the manage-ment of melanoma difficult. Evidence from existing guidelines was used to answer the questions.A limitation of this guide derives from the scarce evidence available for answering some ques-tions. Moreover, some areas are changing rapidly, so recommendations must be updated often.The present guideline offers answers to clinical questions about the routine management ofmelanoma in clinical practice and provides dermatologists with a reference to guide decisions,taking into consideration the resources available and patient preferences., El diagnóstico y tratamiento del melanoma en atención especializada es un campo en el que se han producido numerosos cambios. El objetivo de esta guía es ofrecer a los dermatólogos espa˜noles una referencia para resolver las dudas clínicas más frecuentes basándose en la evidencia actual. Para la realización de esta guía se escogió a miembros del Grupo Espa˜nol de Dermato-Oncología y Cirugía con experiencia en el tratamiento de estos tumores y con interés en participar en la elaboración de la guía. Se hizo una adaptación de las guías de práctica clínica existentes mediante el método ADAPTE: inicialmente se resumió el proceso de atención y se elaboraron las preguntas clínicas relevantes. Se seleccionaron las guías mejor puntuadas mediante el instrumento AGREE II, realizando la búsqueda de las respuestas en dichas guías y elaborando las recomendaciones. Finalmente se sometió la guía a revisión externa. La guía se estructuró a partir de 21 preguntas clínicas que fueron seleccionadas por su relevancia, dadoque se centran en aspectos que pueden plantear decisiones difíciles en el manejo del melanoma,y se han respondido empleando la evidencia obtenida de las mejores guías existentes. Entre laslimitaciones de esta guía merece rese˜narse que la evidencia es escasa para responder a algunaspreguntas. En algunos aspectos el cambio es rápido y exige una actualización frecuente de laguía. Esta guía responde a preguntas habituales sobre el manejo del melanoma en la prácticaclínica diaria, sirviendo a los dermatólogos como referencia en la toma de decisiones, siempreteniendo presente los recursos y preferencias del paciente.

Published
2021

2. Clinical practice guideline on melanoma from the Spanish Academy of Dermatology and Venereology (AEDV)

Author

Universidad de Sevilla. Departamento de Medicina, Botella-Estrada, R., Boada-García, A., Carrera-Álvarez, C., Fernández-Figueras, M., González-Cao, M., Moreno Ramírez, David, García-Doval, I., Universidad de Sevilla. Departamento de Medicina, Botella-Estrada, R., Boada-García, A., Carrera-Álvarez, C., Fernández-Figueras, M., González-Cao, M., Moreno Ramírez, David, and García-Doval, I.

Abstract

Specialist approaches to the diagnosis and treatment of melanoma have undergone many changes. This guideline aims to provide Spanish dermatologists with evidence-based information for resolving the most common doubts that arise in clinical practice. Members of the Spanish Oncologic Dermatology and Surgery Group (GEDOC) with experience treating melanoma were invited to participate in drafting the guideline. The group developed a new guideline on the basis of existing ones, using the ADAPTE collaboration process, first summarizing the care process and posing relevant clinical questions, then selecting guidelines with the best scores according to the AGREE II (Appraisal of Guidelines for Research and Evaluation) tool. Finally, the group searched the selected guidelines for answers to the clinical questions, drafted recom-mendations, and sent them for external review. The guideline is structured around 21 clinicalquestions chosen for their relevance to issues that make clinical decisions about the manage-ment of melanoma difficult. Evidence from existing guidelines was used to answer the questions.A limitation of this guide derives from the scarce evidence available for answering some ques-tions. Moreover, some areas are changing rapidly, so recommendations must be updated often.The present guideline offers answers to clinical questions about the routine management ofmelanoma in clinical practice and provides dermatologists with a reference to guide decisions,taking into consideration the resources available and patient preferences., El diagnóstico y tratamiento del melanoma en atención especializada es un campo en el que se han producido numerosos cambios. El objetivo de esta guía es ofrecer a los dermatólogos espa˜noles una referencia para resolver las dudas clínicas más frecuentes basándose en la evidencia actual. Para la realización de esta guía se escogió a miembros del Grupo Espa˜nol de Dermato-Oncología y Cirugía con experiencia en el tratamiento de estos tumores y con interés en participar en la elaboración de la guía. Se hizo una adaptación de las guías de práctica clínica existentes mediante el método ADAPTE: inicialmente se resumió el proceso de atención y se elaboraron las preguntas clínicas relevantes. Se seleccionaron las guías mejor puntuadas mediante el instrumento AGREE II, realizando la búsqueda de las respuestas en dichas guías y elaborando las recomendaciones. Finalmente se sometió la guía a revisión externa. La guía se estructuró a partir de 21 preguntas clínicas que fueron seleccionadas por su relevancia, dadoque se centran en aspectos que pueden plantear decisiones difíciles en el manejo del melanoma,y se han respondido empleando la evidencia obtenida de las mejores guías existentes. Entre laslimitaciones de esta guía merece rese˜narse que la evidencia es escasa para responder a algunaspreguntas. En algunos aspectos el cambio es rápido y exige una actualización frecuente de laguía. Esta guía responde a preguntas habituales sobre el manejo del melanoma en la prácticaclínica diaria, sirviendo a los dermatólogos como referencia en la toma de decisiones, siempreteniendo presente los recursos y preferencias del paciente.

Published
2021

3. Clinical practice guideline on melanoma from the Spanish Academy of Dermatology and Venereology (AEDV)

Author

Universidad de Sevilla. Departamento de Medicina, Botella-Estrada, R., Boada-García, A., Carrera-Álvarez, C., Fernández-Figueras, M., González-Cao, M., Moreno Ramírez, David, García-Doval, I., Universidad de Sevilla. Departamento de Medicina, Botella-Estrada, R., Boada-García, A., Carrera-Álvarez, C., Fernández-Figueras, M., González-Cao, M., Moreno Ramírez, David, and García-Doval, I.

Abstract

Specialist approaches to the diagnosis and treatment of melanoma have undergone many changes. This guideline aims to provide Spanish dermatologists with evidence-based information for resolving the most common doubts that arise in clinical practice. Members of the Spanish Oncologic Dermatology and Surgery Group (GEDOC) with experience treating melanoma were invited to participate in drafting the guideline. The group developed a new guideline on the basis of existing ones, using the ADAPTE collaboration process, first summarizing the care process and posing relevant clinical questions, then selecting guidelines with the best scores according to the AGREE II (Appraisal of Guidelines for Research and Evaluation) tool. Finally, the group searched the selected guidelines for answers to the clinical questions, drafted recom-mendations, and sent them for external review. The guideline is structured around 21 clinicalquestions chosen for their relevance to issues that make clinical decisions about the manage-ment of melanoma difficult. Evidence from existing guidelines was used to answer the questions.A limitation of this guide derives from the scarce evidence available for answering some ques-tions. Moreover, some areas are changing rapidly, so recommendations must be updated often.The present guideline offers answers to clinical questions about the routine management ofmelanoma in clinical practice and provides dermatologists with a reference to guide decisions,taking into consideration the resources available and patient preferences., El diagnóstico y tratamiento del melanoma en atención especializada es un campo en el que se han producido numerosos cambios. El objetivo de esta guía es ofrecer a los dermatólogos espa˜noles una referencia para resolver las dudas clínicas más frecuentes basándose en la evidencia actual. Para la realización de esta guía se escogió a miembros del Grupo Espa˜nol de Dermato-Oncología y Cirugía con experiencia en el tratamiento de estos tumores y con interés en participar en la elaboración de la guía. Se hizo una adaptación de las guías de práctica clínica existentes mediante el método ADAPTE: inicialmente se resumió el proceso de atención y se elaboraron las preguntas clínicas relevantes. Se seleccionaron las guías mejor puntuadas mediante el instrumento AGREE II, realizando la búsqueda de las respuestas en dichas guías y elaborando las recomendaciones. Finalmente se sometió la guía a revisión externa. La guía se estructuró a partir de 21 preguntas clínicas que fueron seleccionadas por su relevancia, dadoque se centran en aspectos que pueden plantear decisiones difíciles en el manejo del melanoma,y se han respondido empleando la evidencia obtenida de las mejores guías existentes. Entre laslimitaciones de esta guía merece rese˜narse que la evidencia es escasa para responder a algunaspreguntas. En algunos aspectos el cambio es rápido y exige una actualización frecuente de laguía. Esta guía responde a preguntas habituales sobre el manejo del melanoma en la prácticaclínica diaria, sirviendo a los dermatólogos como referencia en la toma de decisiones, siempreteniendo presente los recursos y preferencias del paciente.

Published
2021

4. 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

5. 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

6. 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

7. 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

8. 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

9. 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

10. 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

11. 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

12. 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

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