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Genome-wide association meta-analyses combining multiple risk phenotypes provides insights into the genetic architecture of cutaneous melanoma susceptibility

Most genetic susceptibility to cutaneous melanoma remains to be discovered. Meta-analysis genome-wide association study (GWAS) of 36,760 melanoma cases (67% newly-genotyped) and 375,188 controls identified 54 significant loci with 68 independent SNPs. Analysis of risk estimates across geographical r...

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Autores principales: Landi, Maria Teresa, Bishop, D. Timothy, MacGregor, Stuart, Machiela, Mitchell J., Stratigos, Alexander J., Ghiorzo, Paola, Brossard, Myriam, Calista, Donato, Choi, Jiyeon, Fargnoli, Maria Concetta, Zhang, Tongwu, Rodolfo, Monica, Trower, Adam J., Menin, Chiara, Martinez, Jacobo, Hadjisavvas, Andreas, Song, Lei, Stefanaki, Irene, Scolyer, Richard, Yang, Rose, Goldstein, Alisa M., Potrony, Miriam, Kypreou, Katerina P., Pastorino, Lorenza, Queirolo, Paola, Pellegrini, Cristina, Cattaneo, Laura, Zawistowski, Matthew, Gimenez-Xavier, Pol, Rodriguez, Arantxa, Elefanti, Lisa, Manoukian, Siranoush, Rivoltini, Licia, Smith, Blair H., Loizidou, Maria A., Regno, Laura Del, Massi, Daniela, Mandala, Mario, Khosrotehrani, Kiarash, Akslen, Lars A., Amos, Christopher I., Andresen, Per A., Avril, Marie-Françoise, Azizi, Esther, Soyer, H. Peter, Bataille, Veronique, Dalmasso, Bruna, Bowdler, Lisa M., Burdon, Kathryn P., Chen, Wei V., Codd, Veryan, Craig, Jamie E., Dębniak, Tadeusz, Falchi, Mario, Fang, Shenying, Friedman, Eitan, Simi, Sarah, Galan, Pilar, Garcia-Casado, Zaida, Gillanders, Elizabeth M., Gordon, Scott, Green, Adele, Gruis, Nelleke A., Hansson, Johan, Harland, Mark, Harris, Jessica, Helsing, Per, Henders, Anjali, Hočevar, Marko, Höiom, Veronica, Hunter, David, Ingvar, Christian, Kumar, Rajiv, Lang, Julie, Lathrop, G. Mark, Lee, Jeffrey E., Li, Xin, Lubiński, Jan, Mackie, Rona M., Malt, Maryrose, Malvehy, Josep, McAloney, Kerrie, Mohamdi, Hamida, Molven, Anders, Moses, Eric K., Neale, Rachel E., Novaković, Srdjan, Nyholt, Dale R., Olsson, Håkan, Orr, Nicholas, Fritsche, Lars G., Puig-Butille, Joan Anton, Qureshi, Abrar A., Radford-Smith, Graham L., Randerson-Moor, Juliette, Requena, Celia, Rowe, Casey, Samani, Nilesh J., Sanna, Marianna, Schadendorf, Dirk, Schulze, Hans-Joachim, Simms, Lisa A., Smithers, Mark, Song, Fengju, Swerdlow, Anthony J., van der Stoep, Nienke, Kukutsch, Nicole A., Visconti, Alessia, Wallace, Leanne, Ward, Sarah V., Wheeler, Lawrie, Sturm, Richard A., Hutchinson, Amy, Jones, Kristine, Malasky, Michael, Vogt, Aurelie, Zhou, Weiyin, Pooley, Karen A., Elder, David E., Han, Jiali, Hicks, Belynda, Hayward, Nicholas K., Kanetsky, Peter A., Brummett, Chad, Montgomery, Grant W., Olsen, Catherine M, Hayward, Caroline, Dunning, Alison M., Martin, Nicholas G., Evangelou, Evangelos, Mann, Graham J., Long, Georgina, Pharoah, Paul D. P., Easton, Douglas F., Barrett, Jennifer H., Cust, Anne E., Abecasis, Goncalo, Duffy, David L., Whiteman, David C., Gogas, Helen, De Nicolo, Arcangela, Tucker, Margaret A., Bishop, Julia A. Newton, Peris, Ketty, Chanock, Stephen J., Demenais, Florence, Brown, Kevin M., Puig, Susana, Nagore, Eduardo, Shi, Jianxin, Iles, Mark M., Law, Matthew H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7255059/
https://www.ncbi.nlm.nih.gov/pubmed/32341527
http://dx.doi.org/10.1038/s41588-020-0611-8
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author Landi, Maria Teresa
Bishop, D. Timothy
MacGregor, Stuart
Machiela, Mitchell J.
Stratigos, Alexander J.
Ghiorzo, Paola
Brossard, Myriam
Calista, Donato
Choi, Jiyeon
Fargnoli, Maria Concetta
Zhang, Tongwu
Rodolfo, Monica
Trower, Adam J.
Menin, Chiara
Martinez, Jacobo
Hadjisavvas, Andreas
Song, Lei
Stefanaki, Irene
Scolyer, Richard
Yang, Rose
Goldstein, Alisa M.
Potrony, Miriam
Kypreou, Katerina P.
Pastorino, Lorenza
Queirolo, Paola
Pellegrini, Cristina
Cattaneo, Laura
Zawistowski, Matthew
Gimenez-Xavier, Pol
Rodriguez, Arantxa
Elefanti, Lisa
Manoukian, Siranoush
Rivoltini, Licia
Smith, Blair H.
Loizidou, Maria A.
Regno, Laura Del
Massi, Daniela
Mandala, Mario
Khosrotehrani, Kiarash
Akslen, Lars A.
Amos, Christopher I.
Andresen, Per A.
Avril, Marie-Françoise
Azizi, Esther
Soyer, H. Peter
Bataille, Veronique
Dalmasso, Bruna
Bowdler, Lisa M.
Burdon, Kathryn P.
Chen, Wei V.
Codd, Veryan
Craig, Jamie E.
Dębniak, Tadeusz
Falchi, Mario
Fang, Shenying
Friedman, Eitan
Simi, Sarah
Galan, Pilar
Garcia-Casado, Zaida
Gillanders, Elizabeth M.
Gordon, Scott
Green, Adele
Gruis, Nelleke A.
Hansson, Johan
Harland, Mark
Harris, Jessica
Helsing, Per
Henders, Anjali
Hočevar, Marko
Höiom, Veronica
Hunter, David
Ingvar, Christian
Kumar, Rajiv
Lang, Julie
Lathrop, G. Mark
Lee, Jeffrey E.
Li, Xin
Lubiński, Jan
Mackie, Rona M.
Malt, Maryrose
Malvehy, Josep
McAloney, Kerrie
Mohamdi, Hamida
Molven, Anders
Moses, Eric K.
Neale, Rachel E.
Novaković, Srdjan
Nyholt, Dale R.
Olsson, Håkan
Orr, Nicholas
Fritsche, Lars G.
Puig-Butille, Joan Anton
Qureshi, Abrar A.
Radford-Smith, Graham L.
Randerson-Moor, Juliette
Requena, Celia
Rowe, Casey
Samani, Nilesh J.
Sanna, Marianna
Schadendorf, Dirk
Schulze, Hans-Joachim
Simms, Lisa A.
Smithers, Mark
Song, Fengju
Swerdlow, Anthony J.
van der Stoep, Nienke
Kukutsch, Nicole A.
Visconti, Alessia
Wallace, Leanne
Ward, Sarah V.
Wheeler, Lawrie
Sturm, Richard A.
Hutchinson, Amy
Jones, Kristine
Malasky, Michael
Vogt, Aurelie
Zhou, Weiyin
Pooley, Karen A.
Elder, David E.
Han, Jiali
Hicks, Belynda
Hayward, Nicholas K.
Kanetsky, Peter A.
Brummett, Chad
Montgomery, Grant W.
Olsen, Catherine M
Hayward, Caroline
Dunning, Alison M.
Martin, Nicholas G.
Evangelou, Evangelos
Mann, Graham J.
Long, Georgina
Pharoah, Paul D. P.
Easton, Douglas F.
Barrett, Jennifer H.
Cust, Anne E.
Abecasis, Goncalo
Duffy, David L.
Whiteman, David C.
Gogas, Helen
De Nicolo, Arcangela
Tucker, Margaret A.
Bishop, Julia A. Newton
Peris, Ketty
Chanock, Stephen J.
Demenais, Florence
Brown, Kevin M.
Puig, Susana
Nagore, Eduardo
Shi, Jianxin
Iles, Mark M.
Law, Matthew H.
author_facet Landi, Maria Teresa
Bishop, D. Timothy
MacGregor, Stuart
Machiela, Mitchell J.
Stratigos, Alexander J.
Ghiorzo, Paola
Brossard, Myriam
Calista, Donato
Choi, Jiyeon
Fargnoli, Maria Concetta
Zhang, Tongwu
Rodolfo, Monica
Trower, Adam J.
Menin, Chiara
Martinez, Jacobo
Hadjisavvas, Andreas
Song, Lei
Stefanaki, Irene
Scolyer, Richard
Yang, Rose
Goldstein, Alisa M.
Potrony, Miriam
Kypreou, Katerina P.
Pastorino, Lorenza
Queirolo, Paola
Pellegrini, Cristina
Cattaneo, Laura
Zawistowski, Matthew
Gimenez-Xavier, Pol
Rodriguez, Arantxa
Elefanti, Lisa
Manoukian, Siranoush
Rivoltini, Licia
Smith, Blair H.
Loizidou, Maria A.
Regno, Laura Del
Massi, Daniela
Mandala, Mario
Khosrotehrani, Kiarash
Akslen, Lars A.
Amos, Christopher I.
Andresen, Per A.
Avril, Marie-Françoise
Azizi, Esther
Soyer, H. Peter
Bataille, Veronique
Dalmasso, Bruna
Bowdler, Lisa M.
Burdon, Kathryn P.
Chen, Wei V.
Codd, Veryan
Craig, Jamie E.
Dębniak, Tadeusz
Falchi, Mario
Fang, Shenying
Friedman, Eitan
Simi, Sarah
Galan, Pilar
Garcia-Casado, Zaida
Gillanders, Elizabeth M.
Gordon, Scott
Green, Adele
Gruis, Nelleke A.
Hansson, Johan
Harland, Mark
Harris, Jessica
Helsing, Per
Henders, Anjali
Hočevar, Marko
Höiom, Veronica
Hunter, David
Ingvar, Christian
Kumar, Rajiv
Lang, Julie
Lathrop, G. Mark
Lee, Jeffrey E.
Li, Xin
Lubiński, Jan
Mackie, Rona M.
Malt, Maryrose
Malvehy, Josep
McAloney, Kerrie
Mohamdi, Hamida
Molven, Anders
Moses, Eric K.
Neale, Rachel E.
Novaković, Srdjan
Nyholt, Dale R.
Olsson, Håkan
Orr, Nicholas
Fritsche, Lars G.
Puig-Butille, Joan Anton
Qureshi, Abrar A.
Radford-Smith, Graham L.
Randerson-Moor, Juliette
Requena, Celia
Rowe, Casey
Samani, Nilesh J.
Sanna, Marianna
Schadendorf, Dirk
Schulze, Hans-Joachim
Simms, Lisa A.
Smithers, Mark
Song, Fengju
Swerdlow, Anthony J.
van der Stoep, Nienke
Kukutsch, Nicole A.
Visconti, Alessia
Wallace, Leanne
Ward, Sarah V.
Wheeler, Lawrie
Sturm, Richard A.
Hutchinson, Amy
Jones, Kristine
Malasky, Michael
Vogt, Aurelie
Zhou, Weiyin
Pooley, Karen A.
Elder, David E.
Han, Jiali
Hicks, Belynda
Hayward, Nicholas K.
Kanetsky, Peter A.
Brummett, Chad
Montgomery, Grant W.
Olsen, Catherine M
Hayward, Caroline
Dunning, Alison M.
Martin, Nicholas G.
Evangelou, Evangelos
Mann, Graham J.
Long, Georgina
Pharoah, Paul D. P.
Easton, Douglas F.
Barrett, Jennifer H.
Cust, Anne E.
Abecasis, Goncalo
Duffy, David L.
Whiteman, David C.
Gogas, Helen
De Nicolo, Arcangela
Tucker, Margaret A.
Bishop, Julia A. Newton
Peris, Ketty
Chanock, Stephen J.
Demenais, Florence
Brown, Kevin M.
Puig, Susana
Nagore, Eduardo
Shi, Jianxin
Iles, Mark M.
Law, Matthew H.
author_sort Landi, Maria Teresa
collection PubMed
description Most genetic susceptibility to cutaneous melanoma remains to be discovered. Meta-analysis genome-wide association study (GWAS) of 36,760 melanoma cases (67% newly-genotyped) and 375,188 controls identified 54 significant loci with 68 independent SNPs. Analysis of risk estimates across geographical regions and host factors suggests the acral melanoma subtype is uniquely unrelated to pigmentation. Combining this meta-analysis with nevus count and hair color GWAS, and transcriptome association approaches, uncovered 31 potential secondary loci, for a total of 85 cutaneous melanoma susceptibility loci. These findings provide substantial insights into cutaneous melanoma genetic architecture, reinforcing the importance of nevogenesis, pigmentation, and telomere maintenance together with identifying potential new pathways for cutaneous melanoma pathogenesis.
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spelling pubmed-72550592020-10-27 Genome-wide association meta-analyses combining multiple risk phenotypes provides insights into the genetic architecture of cutaneous melanoma susceptibility Landi, Maria Teresa Bishop, D. Timothy MacGregor, Stuart Machiela, Mitchell J. Stratigos, Alexander J. Ghiorzo, Paola Brossard, Myriam Calista, Donato Choi, Jiyeon Fargnoli, Maria Concetta Zhang, Tongwu Rodolfo, Monica Trower, Adam J. Menin, Chiara Martinez, Jacobo Hadjisavvas, Andreas Song, Lei Stefanaki, Irene Scolyer, Richard Yang, Rose Goldstein, Alisa M. Potrony, Miriam Kypreou, Katerina P. Pastorino, Lorenza Queirolo, Paola Pellegrini, Cristina Cattaneo, Laura Zawistowski, Matthew Gimenez-Xavier, Pol Rodriguez, Arantxa Elefanti, Lisa Manoukian, Siranoush Rivoltini, Licia Smith, Blair H. Loizidou, Maria A. Regno, Laura Del Massi, Daniela Mandala, Mario Khosrotehrani, Kiarash Akslen, Lars A. Amos, Christopher I. Andresen, Per A. Avril, Marie-Françoise Azizi, Esther Soyer, H. Peter Bataille, Veronique Dalmasso, Bruna Bowdler, Lisa M. Burdon, Kathryn P. Chen, Wei V. Codd, Veryan Craig, Jamie E. Dębniak, Tadeusz Falchi, Mario Fang, Shenying Friedman, Eitan Simi, Sarah Galan, Pilar Garcia-Casado, Zaida Gillanders, Elizabeth M. Gordon, Scott Green, Adele Gruis, Nelleke A. Hansson, Johan Harland, Mark Harris, Jessica Helsing, Per Henders, Anjali Hočevar, Marko Höiom, Veronica Hunter, David Ingvar, Christian Kumar, Rajiv Lang, Julie Lathrop, G. Mark Lee, Jeffrey E. Li, Xin Lubiński, Jan Mackie, Rona M. Malt, Maryrose Malvehy, Josep McAloney, Kerrie Mohamdi, Hamida Molven, Anders Moses, Eric K. Neale, Rachel E. Novaković, Srdjan Nyholt, Dale R. Olsson, Håkan Orr, Nicholas Fritsche, Lars G. Puig-Butille, Joan Anton Qureshi, Abrar A. Radford-Smith, Graham L. Randerson-Moor, Juliette Requena, Celia Rowe, Casey Samani, Nilesh J. Sanna, Marianna Schadendorf, Dirk Schulze, Hans-Joachim Simms, Lisa A. Smithers, Mark Song, Fengju Swerdlow, Anthony J. van der Stoep, Nienke Kukutsch, Nicole A. Visconti, Alessia Wallace, Leanne Ward, Sarah V. Wheeler, Lawrie Sturm, Richard A. Hutchinson, Amy Jones, Kristine Malasky, Michael Vogt, Aurelie Zhou, Weiyin Pooley, Karen A. Elder, David E. Han, Jiali Hicks, Belynda Hayward, Nicholas K. Kanetsky, Peter A. Brummett, Chad Montgomery, Grant W. Olsen, Catherine M Hayward, Caroline Dunning, Alison M. Martin, Nicholas G. Evangelou, Evangelos Mann, Graham J. Long, Georgina Pharoah, Paul D. P. Easton, Douglas F. Barrett, Jennifer H. Cust, Anne E. Abecasis, Goncalo Duffy, David L. Whiteman, David C. Gogas, Helen De Nicolo, Arcangela Tucker, Margaret A. Bishop, Julia A. Newton Peris, Ketty Chanock, Stephen J. Demenais, Florence Brown, Kevin M. Puig, Susana Nagore, Eduardo Shi, Jianxin Iles, Mark M. Law, Matthew H. Nat Genet Article Most genetic susceptibility to cutaneous melanoma remains to be discovered. Meta-analysis genome-wide association study (GWAS) of 36,760 melanoma cases (67% newly-genotyped) and 375,188 controls identified 54 significant loci with 68 independent SNPs. Analysis of risk estimates across geographical regions and host factors suggests the acral melanoma subtype is uniquely unrelated to pigmentation. Combining this meta-analysis with nevus count and hair color GWAS, and transcriptome association approaches, uncovered 31 potential secondary loci, for a total of 85 cutaneous melanoma susceptibility loci. These findings provide substantial insights into cutaneous melanoma genetic architecture, reinforcing the importance of nevogenesis, pigmentation, and telomere maintenance together with identifying potential new pathways for cutaneous melanoma pathogenesis. 2020-04-27 2020-05 /pmc/articles/PMC7255059/ /pubmed/32341527 http://dx.doi.org/10.1038/s41588-020-0611-8 Text en Users may view, print, copy, and download text and data-mine the content in such documents, for the purposes of academic research, subject always to the full Conditions of use:http://www.nature.com/authors/editorial_policies/license.html#terms
spellingShingle Article
Landi, Maria Teresa
Bishop, D. Timothy
MacGregor, Stuart
Machiela, Mitchell J.
Stratigos, Alexander J.
Ghiorzo, Paola
Brossard, Myriam
Calista, Donato
Choi, Jiyeon
Fargnoli, Maria Concetta
Zhang, Tongwu
Rodolfo, Monica
Trower, Adam J.
Menin, Chiara
Martinez, Jacobo
Hadjisavvas, Andreas
Song, Lei
Stefanaki, Irene
Scolyer, Richard
Yang, Rose
Goldstein, Alisa M.
Potrony, Miriam
Kypreou, Katerina P.
Pastorino, Lorenza
Queirolo, Paola
Pellegrini, Cristina
Cattaneo, Laura
Zawistowski, Matthew
Gimenez-Xavier, Pol
Rodriguez, Arantxa
Elefanti, Lisa
Manoukian, Siranoush
Rivoltini, Licia
Smith, Blair H.
Loizidou, Maria A.
Regno, Laura Del
Massi, Daniela
Mandala, Mario
Khosrotehrani, Kiarash
Akslen, Lars A.
Amos, Christopher I.
Andresen, Per A.
Avril, Marie-Françoise
Azizi, Esther
Soyer, H. Peter
Bataille, Veronique
Dalmasso, Bruna
Bowdler, Lisa M.
Burdon, Kathryn P.
Chen, Wei V.
Codd, Veryan
Craig, Jamie E.
Dębniak, Tadeusz
Falchi, Mario
Fang, Shenying
Friedman, Eitan
Simi, Sarah
Galan, Pilar
Garcia-Casado, Zaida
Gillanders, Elizabeth M.
Gordon, Scott
Green, Adele
Gruis, Nelleke A.
Hansson, Johan
Harland, Mark
Harris, Jessica
Helsing, Per
Henders, Anjali
Hočevar, Marko
Höiom, Veronica
Hunter, David
Ingvar, Christian
Kumar, Rajiv
Lang, Julie
Lathrop, G. Mark
Lee, Jeffrey E.
Li, Xin
Lubiński, Jan
Mackie, Rona M.
Malt, Maryrose
Malvehy, Josep
McAloney, Kerrie
Mohamdi, Hamida
Molven, Anders
Moses, Eric K.
Neale, Rachel E.
Novaković, Srdjan
Nyholt, Dale R.
Olsson, Håkan
Orr, Nicholas
Fritsche, Lars G.
Puig-Butille, Joan Anton
Qureshi, Abrar A.
Radford-Smith, Graham L.
Randerson-Moor, Juliette
Requena, Celia
Rowe, Casey
Samani, Nilesh J.
Sanna, Marianna
Schadendorf, Dirk
Schulze, Hans-Joachim
Simms, Lisa A.
Smithers, Mark
Song, Fengju
Swerdlow, Anthony J.
van der Stoep, Nienke
Kukutsch, Nicole A.
Visconti, Alessia
Wallace, Leanne
Ward, Sarah V.
Wheeler, Lawrie
Sturm, Richard A.
Hutchinson, Amy
Jones, Kristine
Malasky, Michael
Vogt, Aurelie
Zhou, Weiyin
Pooley, Karen A.
Elder, David E.
Han, Jiali
Hicks, Belynda
Hayward, Nicholas K.
Kanetsky, Peter A.
Brummett, Chad
Montgomery, Grant W.
Olsen, Catherine M
Hayward, Caroline
Dunning, Alison M.
Martin, Nicholas G.
Evangelou, Evangelos
Mann, Graham J.
Long, Georgina
Pharoah, Paul D. P.
Easton, Douglas F.
Barrett, Jennifer H.
Cust, Anne E.
Abecasis, Goncalo
Duffy, David L.
Whiteman, David C.
Gogas, Helen
De Nicolo, Arcangela
Tucker, Margaret A.
Bishop, Julia A. Newton
Peris, Ketty
Chanock, Stephen J.
Demenais, Florence
Brown, Kevin M.
Puig, Susana
Nagore, Eduardo
Shi, Jianxin
Iles, Mark M.
Law, Matthew H.
Genome-wide association meta-analyses combining multiple risk phenotypes provides insights into the genetic architecture of cutaneous melanoma susceptibility
title Genome-wide association meta-analyses combining multiple risk phenotypes provides insights into the genetic architecture of cutaneous melanoma susceptibility
title_full Genome-wide association meta-analyses combining multiple risk phenotypes provides insights into the genetic architecture of cutaneous melanoma susceptibility
title_fullStr Genome-wide association meta-analyses combining multiple risk phenotypes provides insights into the genetic architecture of cutaneous melanoma susceptibility
title_full_unstemmed Genome-wide association meta-analyses combining multiple risk phenotypes provides insights into the genetic architecture of cutaneous melanoma susceptibility
title_short Genome-wide association meta-analyses combining multiple risk phenotypes provides insights into the genetic architecture of cutaneous melanoma susceptibility
title_sort genome-wide association meta-analyses combining multiple risk phenotypes provides insights into the genetic architecture of cutaneous melanoma susceptibility
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7255059/
https://www.ncbi.nlm.nih.gov/pubmed/32341527
http://dx.doi.org/10.1038/s41588-020-0611-8
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AT genomewideassociationmetaanalysescombiningmultipleriskphenotypesprovidesinsightsintothegeneticarchitectureofcutaneousmelanomasusceptibility
AT genomewideassociationmetaanalysescombiningmultipleriskphenotypesprovidesinsightsintothegeneticarchitectureofcutaneousmelanomasusceptibility
AT genomewideassociationmetaanalysescombiningmultipleriskphenotypesprovidesinsightsintothegeneticarchitectureofcutaneousmelanomasusceptibility
AT genomewideassociationmetaanalysescombiningmultipleriskphenotypesprovidesinsightsintothegeneticarchitectureofcutaneousmelanomasusceptibility
AT genomewideassociationmetaanalysescombiningmultipleriskphenotypesprovidesinsightsintothegeneticarchitectureofcutaneousmelanomasusceptibility
AT genomewideassociationmetaanalysescombiningmultipleriskphenotypesprovidesinsightsintothegeneticarchitectureofcutaneousmelanomasusceptibility
AT genomewideassociationmetaanalysescombiningmultipleriskphenotypesprovidesinsightsintothegeneticarchitectureofcutaneousmelanomasusceptibility
AT genomewideassociationmetaanalysescombiningmultipleriskphenotypesprovidesinsightsintothegeneticarchitectureofcutaneousmelanomasusceptibility
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