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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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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
2020
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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. |
format | Online Article Text |
id | pubmed-7255059 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
record_format | MEDLINE/PubMed |
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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genomewideassociationmetaanalysescombiningmultipleriskphenotypesprovidesinsightsintothegeneticarchitectureofcutaneousmelanomasusceptibility AT samaninileshj genomewideassociationmetaanalysescombiningmultipleriskphenotypesprovidesinsightsintothegeneticarchitectureofcutaneousmelanomasusceptibility AT sannamarianna genomewideassociationmetaanalysescombiningmultipleriskphenotypesprovidesinsightsintothegeneticarchitectureofcutaneousmelanomasusceptibility AT schadendorfdirk genomewideassociationmetaanalysescombiningmultipleriskphenotypesprovidesinsightsintothegeneticarchitectureofcutaneousmelanomasusceptibility AT schulzehansjoachim genomewideassociationmetaanalysescombiningmultipleriskphenotypesprovidesinsightsintothegeneticarchitectureofcutaneousmelanomasusceptibility AT simmslisaa genomewideassociationmetaanalysescombiningmultipleriskphenotypesprovidesinsightsintothegeneticarchitectureofcutaneousmelanomasusceptibility AT smithersmark 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genomewideassociationmetaanalysescombiningmultipleriskphenotypesprovidesinsightsintothegeneticarchitectureofcutaneousmelanomasusceptibility AT eastondouglasf genomewideassociationmetaanalysescombiningmultipleriskphenotypesprovidesinsightsintothegeneticarchitectureofcutaneousmelanomasusceptibility AT barrettjenniferh genomewideassociationmetaanalysescombiningmultipleriskphenotypesprovidesinsightsintothegeneticarchitectureofcutaneousmelanomasusceptibility AT custannee genomewideassociationmetaanalysescombiningmultipleriskphenotypesprovidesinsightsintothegeneticarchitectureofcutaneousmelanomasusceptibility AT abecasisgoncalo genomewideassociationmetaanalysescombiningmultipleriskphenotypesprovidesinsightsintothegeneticarchitectureofcutaneousmelanomasusceptibility AT duffydavidl genomewideassociationmetaanalysescombiningmultipleriskphenotypesprovidesinsightsintothegeneticarchitectureofcutaneousmelanomasusceptibility AT whitemandavidc genomewideassociationmetaanalysescombiningmultipleriskphenotypesprovidesinsightsintothegeneticarchitectureofcutaneousmelanomasusceptibility AT gogashelen genomewideassociationmetaanalysescombiningmultipleriskphenotypesprovidesinsightsintothegeneticarchitectureofcutaneousmelanomasusceptibility AT denicoloarcangela genomewideassociationmetaanalysescombiningmultipleriskphenotypesprovidesinsightsintothegeneticarchitectureofcutaneousmelanomasusceptibility AT tuckermargareta genomewideassociationmetaanalysescombiningmultipleriskphenotypesprovidesinsightsintothegeneticarchitectureofcutaneousmelanomasusceptibility AT bishopjuliaanewton genomewideassociationmetaanalysescombiningmultipleriskphenotypesprovidesinsightsintothegeneticarchitectureofcutaneousmelanomasusceptibility AT genomewideassociationmetaanalysescombiningmultipleriskphenotypesprovidesinsightsintothegeneticarchitectureofcutaneousmelanomasusceptibility AT genomewideassociationmetaanalysescombiningmultipleriskphenotypesprovidesinsightsintothegeneticarchitectureofcutaneousmelanomasusceptibility AT genomewideassociationmetaanalysescombiningmultipleriskphenotypesprovidesinsightsintothegeneticarchitectureofcutaneousmelanomasusceptibility AT genomewideassociationmetaanalysescombiningmultipleriskphenotypesprovidesinsightsintothegeneticarchitectureofcutaneousmelanomasusceptibility AT genomewideassociationmetaanalysescombiningmultipleriskphenotypesprovidesinsightsintothegeneticarchitectureofcutaneousmelanomasusceptibility AT genomewideassociationmetaanalysescombiningmultipleriskphenotypesprovidesinsightsintothegeneticarchitectureofcutaneousmelanomasusceptibility AT genomewideassociationmetaanalysescombiningmultipleriskphenotypesprovidesinsightsintothegeneticarchitectureofcutaneousmelanomasusceptibility AT genomewideassociationmetaanalysescombiningmultipleriskphenotypesprovidesinsightsintothegeneticarchitectureofcutaneousmelanomasusceptibility AT genomewideassociationmetaanalysescombiningmultipleriskphenotypesprovidesinsightsintothegeneticarchitectureofcutaneousmelanomasusceptibility AT perisketty genomewideassociationmetaanalysescombiningmultipleriskphenotypesprovidesinsightsintothegeneticarchitectureofcutaneousmelanomasusceptibility AT chanockstephenj genomewideassociationmetaanalysescombiningmultipleriskphenotypesprovidesinsightsintothegeneticarchitectureofcutaneousmelanomasusceptibility AT demenaisflorence genomewideassociationmetaanalysescombiningmultipleriskphenotypesprovidesinsightsintothegeneticarchitectureofcutaneousmelanomasusceptibility AT brownkevinm genomewideassociationmetaanalysescombiningmultipleriskphenotypesprovidesinsightsintothegeneticarchitectureofcutaneousmelanomasusceptibility AT puigsusana genomewideassociationmetaanalysescombiningmultipleriskphenotypesprovidesinsightsintothegeneticarchitectureofcutaneousmelanomasusceptibility AT nagoreeduardo genomewideassociationmetaanalysescombiningmultipleriskphenotypesprovidesinsightsintothegeneticarchitectureofcutaneousmelanomasusceptibility AT shijianxin genomewideassociationmetaanalysescombiningmultipleriskphenotypesprovidesinsightsintothegeneticarchitectureofcutaneousmelanomasusceptibility AT ilesmarkm genomewideassociationmetaanalysescombiningmultipleriskphenotypesprovidesinsightsintothegeneticarchitectureofcutaneousmelanomasusceptibility AT lawmatthewh genomewideassociationmetaanalysescombiningmultipleriskphenotypesprovidesinsightsintothegeneticarchitectureofcutaneousmelanomasusceptibility |