Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma

Matthew H. Law; D. Timothy Bishop; Paul D. P. Pharoah; Antonio Vilalta; Donato Calista; Giorgio Landi; Paola Minghetti; Fabio Arcangeli; Pier Alberto Bertazzi; Lorenza Pastorino; William Bruno; Virginia Andreotti; Claudia Martinuzzi; Anthony J. Swerdlow; Linda Battistuzzi; Paola Origone; Paola Queirolo; Paul Affleck; Jane Harrison; Linda Whittaker; Kairen Kukalizch; Susan Leake; Birute Karpavicius; Sue Haynes; Katerina P. Kypreou; Tricia Mack; May Chan; Yvonne Taylor; John Davies; Paul King; Frans A. van Nieuwpoort; Coby Out; Clasine van der Drift; Wilma Bergman; Nicole Kukutsch; John C. Taylor; Jan Nico Bouwes Bavinck; Bert Bakker; Jeanet ter Huurne; Han van der Rhee; Marcel Bekkenk; Dyon Snels; Marinus van Praag; Lieve Brochez; Rianne Gerritsen; Marianne Crijns; Mark Harland; Hans Vasen; Wilbert van Workum; Bart Janssen; Marjolein Janssen; Suzanne Mulder; Göran Jönsson; Åke Borg; Anna Måsbäck; Lotta Lundgren; Katja Baeckenhorn; Juliette Randerson-Moor; Kari Nielsen; Anita Schmidt Casslén; Helge Rootwelt; Brigitte Bressac-de Paillerets; Eve Maubec; Myriam Brossard; Amaury Vaysse; Hamida Mohamdi; Patricia Jeannin; Valérie Chaudru; Lars A. Akslen; Nicolas Chateigner; Eve Corda; Fabienne Lesueur; Mahaut de Lichy; Pascale Andry-Benzaquen; Bertrand Bachollet; Frédéric Bérard; Pascaline Berthet; Françoise Boitier; Valérie Bonadona; Per A. Andresen; Jean-Louis Bonafé; Jean-Marie Bonnetblanc; Frédéric Cambazard; Olivier Caron; Frédéric Caux; Jacqueline Chevrant-Breton; Agnès Chompret; Stéphane Dalle; Liliane Demange; Olivier Dereure; Marie-Françoise Avril; Martin-Xavier Doré; Marie-Sylvie Doutre; Catherine Dugast; Laurence Faivre; Florent Grange; Philippe Humbert; Pascal Joly; Delphine Kerob; Christine Lasset; Marie Thérèse Leccia; Esther Azizi; Gilbert Lenoir; Dominique Leroux; Julien Levang; Dan Lipsker; Sandrine Mansard; Ludovic Martin; Tanguy Martin-Denavit; Christine Mateus; Jean-Loïc Michel; Patrice Morel; Jeffrey E. Lee; Giovanna Bianchi Scarrà; Laurence Olivier-Faivre; Jean-Luc Perrot; Caroline Robert; Sandra Ronger-Savle; Bruno Sassolas; Pierre Souteyrand; Dominique Stoppa-Lyonnet; Luc Thomas; Pierre Vabres; Eva Wierzbicka; Kevin M. Brown; Jilian Knorr; Michael Ming; Nandita Mitra; Althea Ruffin; Patricia Van Belle; Jan Lubiński; Aneta Mirecka; Sławomir Ertmański; Marko Hocevar; Barbara Peric; Tadeusz Dȩbniak; Petra Cerkovnik; Helen Schmid; Elizabeth A. Holland; Gilli Galore-Haskel; Orna Baron-Epel; Alon Scope; Felix Pavlotsky; Emanuel Yakobson; Irit Cohen-Manheim; David L. Duffy; Yael Laitman; Roni Milgrom; Iris Shimoni; Evgeniya Kozlovaa; Joanne F. Aitken; Bruce K. Armstrong; Graham G. Giles; John L. Hopper; Mark A. Jenkins; Peter Visscher; David E. Elder; Penny Webb; Adele Green; Peter Parsons; David Purdie; Zhen Zhen Zhao; Anjali K. Henders; Mitchell Stark; Jodie N. Painter; Sandra Pavey; David Gotley; Shenying Fang; Mark Smithers; Paul Drew; Glyn Jamieson; David Watson; Andrew Clouston; D. Nancarrow; D. Hussey; E. Smith; G. Mayne; S. O'Brien; Eitan Friedman; T. Sadkowsky; A. McMurtrie; L. Terry; M. Connard; L. Jackman; S. Perry; M. Davis; D. Roffe; M. Martin; R Kefford; L. Smith; Pilar Galan; I. Brown; N. Walker; Justin Bessell; William Tam; Andrew Ruskowicz; Kari Hemminki; Antje Sucker; Thomas Vogt; Ralf Gutzmer; Helen Gogas; Paola Ghiorzo; David Hoon; Eduardo Nagore; John Kirkwood; Benjamin Weide; Piotr Rutkowski; Selma Ugurel; Fani Karagianni; Kyriaki Antonopoulou; Dorothea Polydorou; Vasiliki Hasapi; Elizabeth M. Gillanders; Michaela Plaka; Nelli Gousetti; Othon Papadopoulos; Christina Antoniou; Vangelis Evangelou; Alisa M. Goldstein; Nelleke A. Gruis; Johan Hansson; Per Helsing; Marko Hočevar; Veronica Höiom; Christian Ingvar; Peter A. Kanetsky; Wei V. Chen; Maria Teresa Landi; Nicholas G. Martin; Julie Lang; G. Mark Lathrop; Rona M. Mackie; Graham J. Mann; Anders Molven; Grant W. Montgomery; Srdjan Novaković; Håkan Olsson; Susana Puig; Eric K. Moses; Joan Anton Puig-Butille; Abrar A. Qureshi; Graham L. Radford-Smith; Nienke van der Stoep; Remco van Doorn; David C. Whiteman; Jamie E. Craig; Dirk Schadendorf; Lisa A. Simms; Kathryn P. Burdon; Fengju Song; Dale R. Nyholt; Karen A. Pooley; Nick Orr; Alexander J. Stratigos; Anne E. Cust; Sarah V. Ward; Nicholas K. Hayward; Jiali Han; Hans-Joachim Schulze; Alison M. Dunning; Jennifer H. Barrett; Julia A. Newton Bishop; Florence Demenais; Christopher I. Amos; Stuart MacGregor; Mark M. Iles; Paula Aguilera; Beatriz Alejo; Celia Badenas; Abel Caño; Cristina Carrera; Rajiv Kumar; Francisco Cuellar; Mireia Dominguez; Daniel Gabriel; Pol Gimenez-Xavier; Pablo Iglesias; Josep Malvehy; Rosa Marti-Laborda; Montse Mila; Zighe Ogbah; Miriam Potrony; Douglas F. Easton; Gemma Tell; Llúcia Alós; Ana Arance; Pedro Arguís; Antonio Bennassar; Oscar Chirife; Carlos Conill; Ramon Rull; Marcelo Sánchez; Sergi Vidal-Sicart

doi:10.1038/ng.3373

Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma

Matthew H. Law, D. Timothy Bishop, Paul D. P. Pharoah, Antonio Vilalta, Donato Calista, Giorgio Landi, Paola Minghetti, Fabio Arcangeli, Pier Alberto Bertazzi, Lorenza Pastorino, William Bruno, Virginia Andreotti, Claudia Martinuzzi, Anthony J. Swerdlow, Linda Battistuzzi, Paola Origone, Paola Queirolo, Paul Affleck, Jane Harrison, Linda WhittakerKairen Kukalizch, Susan Leake, Birute Karpavicius, Sue Haynes, Katerina P. Kypreou, Tricia Mack, May Chan, Yvonne Taylor, John Davies, Paul King, Frans A. van Nieuwpoort, Coby Out, Clasine van der Drift, Wilma Bergman, Nicole Kukutsch, John C. Taylor, Jan Nico Bouwes Bavinck, Bert Bakker, Jeanet ter Huurne, Han van der Rhee, Marcel Bekkenk, Dyon Snels, Marinus van Praag, Lieve Brochez, Rianne Gerritsen, Marianne Crijns, Mark Harland, Hans Vasen, Wilbert van Workum, Bart Janssen, Marjolein Janssen, Suzanne Mulder, Göran Jönsson, Åke Borg, Anna Måsbäck, Lotta Lundgren, Katja Baeckenhorn, Juliette Randerson-Moor, Kari Nielsen, Anita Schmidt Casslén, Helge Rootwelt, Brigitte Bressac-de Paillerets, Eve Maubec, Myriam Brossard, Amaury Vaysse, Hamida Mohamdi, Patricia Jeannin, Valérie Chaudru, Lars A. Akslen, Nicolas Chateigner, Eve Corda, Fabienne Lesueur, Mahaut de Lichy, Pascale Andry-Benzaquen, Bertrand Bachollet, Frédéric Bérard, Pascaline Berthet, Françoise Boitier, Valérie Bonadona, Per A. Andresen, Jean-Louis Bonafé, Jean-Marie Bonnetblanc, Frédéric Cambazard, Olivier Caron, Frédéric Caux, Jacqueline Chevrant-Breton, Agnès Chompret, Stéphane Dalle, Liliane Demange, Olivier Dereure, Marie-Françoise Avril, Martin-Xavier Doré, Marie-Sylvie Doutre, Catherine Dugast, Laurence Faivre, Florent Grange, Philippe Humbert, Pascal Joly, Delphine Kerob, Christine Lasset, Marie Thérèse Leccia, Esther Azizi, Gilbert Lenoir, Dominique Leroux, Julien Levang, Dan Lipsker, Sandrine Mansard, Ludovic Martin, Tanguy Martin-Denavit, Christine Mateus, Jean-Loïc Michel, Patrice Morel, Jeffrey E. Lee, Giovanna Bianchi Scarrà, Laurence Olivier-Faivre, Jean-Luc Perrot, Caroline Robert, Sandra Ronger-Savle, Bruno Sassolas, Pierre Souteyrand, Dominique Stoppa-Lyonnet, Luc Thomas, Pierre Vabres, Eva Wierzbicka, Kevin M. Brown, Jilian Knorr, Michael Ming, Nandita Mitra, Althea Ruffin, Patricia Van Belle, Jan Lubiński, Aneta Mirecka, Sławomir Ertmański, Marko Hocevar, Barbara Peric, Tadeusz Dȩbniak, Petra Cerkovnik, Helen Schmid, Elizabeth A. Holland, Gilli Galore-Haskel, Orna Baron-Epel, Alon Scope, Felix Pavlotsky, Emanuel Yakobson, Irit Cohen-Manheim, David L. Duffy, Yael Laitman, Roni Milgrom, Iris Shimoni, Evgeniya Kozlovaa, Joanne F. Aitken, Bruce K. Armstrong, Graham G. Giles, John L. Hopper, Mark A. Jenkins, Peter Visscher, David E. Elder, Penny Webb, Adele Green, Peter Parsons, David Purdie, Zhen Zhen Zhao, Anjali K. Henders, Mitchell Stark, Jodie N. Painter, Sandra Pavey, David Gotley, Shenying Fang, Mark Smithers, Paul Drew, Glyn Jamieson, David Watson, Andrew Clouston, D. Nancarrow, D. Hussey, E. Smith, G. Mayne, S. O'Brien, Eitan Friedman, T. Sadkowsky, A. McMurtrie, L. Terry, M. Connard, L. Jackman, S. Perry, M. Davis, D. Roffe, M. Martin, R Kefford, L. Smith, Pilar Galan, I. Brown, N. Walker, Justin Bessell, William Tam, Andrew Ruskowicz, Kari Hemminki, Antje Sucker, Thomas Vogt, Ralf Gutzmer, Helen Gogas, Paola Ghiorzo, David Hoon, Eduardo Nagore, John Kirkwood, Benjamin Weide, Piotr Rutkowski, Selma Ugurel, Fani Karagianni, Kyriaki Antonopoulou, Dorothea Polydorou, Vasiliki Hasapi, Elizabeth M. Gillanders, Michaela Plaka, Nelli Gousetti, Othon Papadopoulos, Christina Antoniou, Vangelis Evangelou, Alisa M. Goldstein, Nelleke A. Gruis, Johan Hansson, Per Helsing, Marko Hočevar, Veronica Höiom, Christian Ingvar, Peter A. Kanetsky, Wei V. Chen, Maria Teresa Landi, Nicholas G. Martin, Julie Lang, G. Mark Lathrop, Rona M. Mackie, Graham J. Mann, Anders Molven, Grant W. Montgomery, Srdjan Novaković, Håkan Olsson, Susana Puig, Eric K. Moses, Joan Anton Puig-Butille, Abrar A. Qureshi, Graham L. Radford-Smith, Nienke van der Stoep, Remco van Doorn, David C. Whiteman, Jamie E. Craig, Dirk Schadendorf, Lisa A. Simms, Kathryn P. Burdon, Fengju Song, Dale R. Nyholt, Karen A. Pooley, Nick Orr, Alexander J. Stratigos, Anne E. Cust, Sarah V. Ward, Nicholas K. Hayward, Jiali Han, Hans-Joachim Schulze, Alison M. Dunning, Jennifer H. Barrett, Julia A. Newton Bishop, Florence Demenais, Christopher I. Amos, Stuart MacGregor, Mark M. Iles, Paula Aguilera, Beatriz Alejo, Celia Badenas, Abel Caño, Cristina Carrera, Rajiv Kumar, Francisco Cuellar, Mireia Dominguez, Daniel Gabriel, Pol Gimenez-Xavier, Pablo Iglesias, Josep Malvehy, Rosa Marti-Laborda, Montse Mila, Zighe Ogbah, Miriam Potrony, Douglas F. Easton, Gemma Tell, Llúcia Alós, Ana Arance, Pedro Arguís, Antonio Bennassar, Oscar Chirife, Carlos Conill, Ramon Rull, Marcelo Sánchez, Sergi Vidal-Sicart

Research output: Contribution to journal › Article › peer-review

196 Citations (Scopus)

Abstract

Thirteen common susceptibility loci have been reproducibly associated with cutaneous malignant melanoma (CMM). We report the results of an international 2-stage meta-analysis of CMM genome-wide association studies (GWAS). This meta-analysis combines 11 GWAS (5 previously unpublished) and a further three stage 2 data sets, totaling 15,990 CMM cases and 26,409 controls. Five loci not previously associated with CMM risk reached genome-wide significance (P <5 × 10−8), as did 2 previously reported but unreplicated loci and all 13 established loci. Newly associated SNPs fall within putative melanocyte regulatory elements, and bioinformatic and expression quantitative trait locus (eQTL) data highlight candidate genes in the associated regions, including one involved in telomere biology.

Original language	English
Pages (from-to)	987-995
Number of pages	9
Journal	Nature Genetics
Volume	47
Issue number	9
DOIs	https://doi.org/10.1038/ng.3373
Publication status	Published - Sept 2015
Externally published	Yes

Access to Document

10.1038/ng.3373

Cite this

Law, M. H., Bishop, D. T., Pharoah, P. D. P., Vilalta, A., Calista, D., Landi, G., Minghetti, P., Arcangeli, F., Bertazzi, P. A., Pastorino, L., Bruno, W., Andreotti, V., Martinuzzi, C., Swerdlow, A. J., Battistuzzi, L., Origone, P., Queirolo, P., Affleck, P., Harrison, J., ... Vidal-Sicart, S. (2015). Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma. Nature Genetics, 47(9), 987-995. https://doi.org/10.1038/ng.3373

@article{2aa522dad3c540cf90a5db39facd40f3,

title = "Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma",

abstract = "Thirteen common susceptibility loci have been reproducibly associated with cutaneous malignant melanoma (CMM). We report the results of an international 2-stage meta-analysis of CMM genome-wide association studies (GWAS). This meta-analysis combines 11 GWAS (5 previously unpublished) and a further three stage 2 data sets, totaling 15,990 CMM cases and 26,409 controls. Five loci not previously associated with CMM risk reached genome-wide significance (P <5 × 10−8), as did 2 previously reported but unreplicated loci and all 13 established loci. Newly associated SNPs fall within putative melanocyte regulatory elements, and bioinformatic and expression quantitative trait locus (eQTL) data highlight candidate genes in the associated regions, including one involved in telomere biology.",

author = "Law, {Matthew H.} and Bishop, {D. Timothy} and Pharoah, {Paul D. P.} and Antonio Vilalta and Donato Calista and Giorgio Landi and Paola Minghetti and Fabio Arcangeli and Bertazzi, {Pier Alberto} and Lorenza Pastorino and William Bruno and Virginia Andreotti and Claudia Martinuzzi and Swerdlow, {Anthony J.} and Linda Battistuzzi and Paola Origone and Paola Queirolo and Paul Affleck and Jane Harrison and Linda Whittaker and Kairen Kukalizch and Susan Leake and Birute Karpavicius and Sue Haynes and Kypreou, {Katerina P.} and Tricia Mack and May Chan and Yvonne Taylor and John Davies and Paul King and {van Nieuwpoort}, {Frans A.} and Coby Out and {van der Drift}, Clasine and Wilma Bergman and Nicole Kukutsch and Taylor, {John C.} and {Bouwes Bavinck}, {Jan Nico} and Bert Bakker and {ter Huurne}, Jeanet and {van der Rhee}, Han and Marcel Bekkenk and Dyon Snels and {van Praag}, Marinus and Lieve Brochez and Rianne Gerritsen and Marianne Crijns and Mark Harland and Hans Vasen and {van Workum}, Wilbert and Bart Janssen and Marjolein Janssen and Suzanne Mulder and G{\"o}ran J{\"o}nsson and {\AA}ke Borg and Anna M{\aa}sb{\"a}ck and Lotta Lundgren and Katja Baeckenhorn and Juliette Randerson-Moor and Kari Nielsen and {Schmidt Cassl{\'e}n}, Anita and Helge Rootwelt and {Bressac-de Paillerets}, Brigitte and Eve Maubec and Myriam Brossard and Amaury Vaysse and Hamida Mohamdi and Patricia Jeannin and Val{\'e}rie Chaudru and Akslen, {Lars A.} and Nicolas Chateigner and Eve Corda and Fabienne Lesueur and {de Lichy}, Mahaut and Pascale Andry-Benzaquen and Bertrand Bachollet and Fr{\'e}d{\'e}ric B{\'e}rard and Pascaline Berthet and Fran{\c c}oise Boitier and Val{\'e}rie Bonadona and Andresen, {Per A.} and Jean-Louis Bonaf{\'e} and Jean-Marie Bonnetblanc and Fr{\'e}d{\'e}ric Cambazard and Olivier Caron and Fr{\'e}d{\'e}ric Caux and Jacqueline Chevrant-Breton and Agn{\`e}s Chompret and St{\'e}phane Dalle and Liliane Demange and Olivier Dereure and Marie-Fran{\c c}oise Avril and Martin-Xavier Dor{\'e} and Marie-Sylvie Doutre and Catherine Dugast and Laurence Faivre and Florent Grange and Philippe Humbert and Pascal Joly and Delphine Kerob and Christine Lasset and Leccia, {Marie Th{\'e}r{\`e}se} and Esther Azizi and Gilbert Lenoir and Dominique Leroux and Julien Levang and Dan Lipsker and Sandrine Mansard and Ludovic Martin and Tanguy Martin-Denavit and Christine Mateus and Jean-Lo{\"i}c Michel and Patrice Morel and Lee, {Jeffrey E.} and {Bianchi Scarr{\`a}}, Giovanna and Laurence Olivier-Faivre and Jean-Luc Perrot and Caroline Robert and Sandra Ronger-Savle and Bruno Sassolas and Pierre Souteyrand and Dominique Stoppa-Lyonnet and Luc Thomas and Pierre Vabres and Eva Wierzbicka and Brown, {Kevin M.} and Jilian Knorr and Michael Ming and Nandita Mitra and Althea Ruffin and {Van Belle}, Patricia and Jan Lubi{\'n}ski and Aneta Mirecka and S{\l}awomir Ertma{\'n}ski and Marko Hocevar and Barbara Peric and Tadeusz Dȩbniak and Petra Cerkovnik and Helen Schmid and Holland, {Elizabeth A.} and Gilli Galore-Haskel and Orna Baron-Epel and Alon Scope and Felix Pavlotsky and Emanuel Yakobson and Irit Cohen-Manheim and Duffy, {David L.} and Yael Laitman and Roni Milgrom and Iris Shimoni and Evgeniya Kozlovaa and Aitken, {Joanne F.} and Armstrong, {Bruce K.} and Giles, {Graham G.} and Hopper, {John L.} and Jenkins, {Mark A.} and Peter Visscher and Elder, {David E.} and Penny Webb and Adele Green and Peter Parsons and David Purdie and Zhao, {Zhen Zhen} and Henders, {Anjali K.} and Mitchell Stark and Painter, {Jodie N.} and Sandra Pavey and David Gotley and Shenying Fang and Mark Smithers and Paul Drew and Glyn Jamieson and David Watson and Andrew Clouston and D. Nancarrow and D. Hussey and E. Smith and G. Mayne and S. O'Brien and Eitan Friedman and T. Sadkowsky and A. McMurtrie and L. Terry and M. Connard and L. Jackman and S. Perry and M. Davis and D. Roffe and M. Martin and R Kefford and L. Smith and Pilar Galan and I. Brown and N. Walker and Justin Bessell and William Tam and Andrew Ruskowicz and Kari Hemminki and Antje Sucker and Thomas Vogt and Ralf Gutzmer and Helen Gogas and Paola Ghiorzo and David Hoon and Eduardo Nagore and John Kirkwood and Benjamin Weide and Piotr Rutkowski and Selma Ugurel and Fani Karagianni and Kyriaki Antonopoulou and Dorothea Polydorou and Vasiliki Hasapi and Gillanders, {Elizabeth M.} and Michaela Plaka and Nelli Gousetti and Othon Papadopoulos and Christina Antoniou and Vangelis Evangelou and Goldstein, {Alisa M.} and Gruis, {Nelleke A.} and Johan Hansson and Per Helsing and Marko Ho{\v c}evar and Veronica H{\"o}iom and Christian Ingvar and Kanetsky, {Peter A.} and Chen, {Wei V.} and Landi, {Maria Teresa} and Martin, {Nicholas G.} and Julie Lang and Lathrop, {G. Mark} and Mackie, {Rona M.} and Mann, {Graham J.} and Anders Molven and Montgomery, {Grant W.} and Srdjan Novakovi{\'c} and H{\aa}kan Olsson and Susana Puig and Moses, {Eric K.} and Puig-Butille, {Joan Anton} and Qureshi, {Abrar A.} and Radford-Smith, {Graham L.} and {van der Stoep}, Nienke and {van Doorn}, Remco and Whiteman, {David C.} and Craig, {Jamie E.} and Dirk Schadendorf and Simms, {Lisa A.} and Burdon, {Kathryn P.} and Fengju Song and Nyholt, {Dale R.} and Pooley, {Karen A.} and Nick Orr and Stratigos, {Alexander J.} and Cust, {Anne E.} and Ward, {Sarah V.} and Hayward, {Nicholas K.} and Jiali Han and Hans-Joachim Schulze and Dunning, {Alison M.} and Barrett, {Jennifer H.} and {Newton Bishop}, {Julia A.} and Florence Demenais and Amos, {Christopher I.} and Stuart MacGregor and Iles, {Mark M.} and Paula Aguilera and Beatriz Alejo and Celia Badenas and Abel Ca{\~n}o and Cristina Carrera and Rajiv Kumar and Francisco Cuellar and Mireia Dominguez and Daniel Gabriel and Pol Gimenez-Xavier and Pablo Iglesias and Josep Malvehy and Rosa Marti-Laborda and Montse Mila and Zighe Ogbah and Miriam Potrony and Easton, {Douglas F.} and Gemma Tell and Ll{\'u}cia Al{\'o}s and Ana Arance and Pedro Argu{\'i}s and Antonio Bennassar and Oscar Chirife and Carlos Conill and Ramon Rull and Marcelo S{\'a}nchez and Sergi Vidal-Sicart",

year = "2015",

month = sep,

doi = "10.1038/ng.3373",

language = "English",

volume = "47",

pages = "987--995",

journal = "Nature Genetics",

issn = "1061-4036",

publisher = "Springer, Springer Nature",

number = "9",

}

Law, MH, Bishop, DT, Pharoah, PDP, Vilalta, A, Calista, D, Landi, G, Minghetti, P, Arcangeli, F, Bertazzi, PA, Pastorino, L, Bruno, W, Andreotti, V, Martinuzzi, C, Swerdlow, AJ, Battistuzzi, L, Origone, P, Queirolo, P, Affleck, P, Harrison, J, Whittaker, L, Kukalizch, K, Leake, S, Karpavicius, B, Haynes, S, Kypreou, KP, Mack, T, Chan, M, Taylor, Y, Davies, J, King, P, van Nieuwpoort, FA, Out, C, van der Drift, C, Bergman, W, Kukutsch, N, Taylor, JC, Bouwes Bavinck, JN, Bakker, B, ter Huurne, J, van der Rhee, H, Bekkenk, M, Snels, D, van Praag, M, Brochez, L, Gerritsen, R, Crijns, M, Harland, M, Vasen, H, van Workum, W, Janssen, B, Janssen, M, Mulder, S, Jönsson, G, Borg, Å, Måsbäck, A, Lundgren, L, Baeckenhorn, K, Randerson-Moor, J, Nielsen, K, Schmidt Casslén, A, Rootwelt, H, Bressac-de Paillerets, B, Maubec, E, Brossard, M, Vaysse, A, Mohamdi, H, Jeannin, P, Chaudru, V, Akslen, LA, Chateigner, N, Corda, E, Lesueur, F, de Lichy, M, Andry-Benzaquen, P, Bachollet, B, Bérard, F, Berthet, P, Boitier, F, Bonadona, V, Andresen, PA, Bonafé, J-L, Bonnetblanc, J-M, Cambazard, F, Caron, O, Caux, F, Chevrant-Breton, J, Chompret, A, Dalle, S, Demange, L, Dereure, O, Avril, M-F, Doré, M-X, Doutre, M-S, Dugast, C, Faivre, L, Grange, F, Humbert, P, Joly, P, Kerob, D, Lasset, C, Leccia, MT, Azizi, E, Lenoir, G, Leroux, D, Levang, J, Lipsker, D, Mansard, S, Martin, L, Martin-Denavit, T, Mateus, C, Michel, J-L, Morel, P, Lee, JE, Bianchi Scarrà, G, Olivier-Faivre, L, Perrot, J-L, Robert, C, Ronger-Savle, S, Sassolas, B, Souteyrand, P, Stoppa-Lyonnet, D, Thomas, L, Vabres, P, Wierzbicka, E, Brown, KM, Knorr, J, Ming, M, Mitra, N, Ruffin, A, Van Belle, P, Lubiński, J, Mirecka, A, Ertmański, S, Hocevar, M, Peric, B, Dȩbniak, T, Cerkovnik, P, Schmid, H, Holland, EA, Galore-Haskel, G, Baron-Epel, O, Scope, A, Pavlotsky, F, Yakobson, E, Cohen-Manheim, I, Duffy, DL, Laitman, Y, Milgrom, R, Shimoni, I, Kozlovaa, E, Aitken, JF, Armstrong, BK, Giles, GG, Hopper, JL, Jenkins, MA, Visscher, P, Elder, DE, Webb, P, Green, A, Parsons, P, Purdie, D, Zhao, ZZ, Henders, AK, Stark, M, Painter, JN, Pavey, S, Gotley, D, Fang, S, Smithers, M, Drew, P, Jamieson, G, Watson, D, Clouston, A, Nancarrow, D, Hussey, D, Smith, E, Mayne, G, O'Brien, S, Friedman, E, Sadkowsky, T, McMurtrie, A, Terry, L, Connard, M, Jackman, L, Perry, S, Davis, M, Roffe, D, Martin, M, Kefford, R, Smith, L, Galan, P, Brown, I, Walker, N, Bessell, J, Tam, W, Ruskowicz, A, Hemminki, K, Sucker, A, Vogt, T, Gutzmer, R, Gogas, H, Ghiorzo, P, Hoon, D, Nagore, E, Kirkwood, J, Weide, B, Rutkowski, P, Ugurel, S, Karagianni, F, Antonopoulou, K, Polydorou, D, Hasapi, V, Gillanders, EM, Plaka, M, Gousetti, N, Papadopoulos, O, Antoniou, C, Evangelou, V, Goldstein, AM, Gruis, NA, Hansson, J, Helsing, P, Hočevar, M, Höiom, V, Ingvar, C, Kanetsky, PA, Chen, WV, Landi, MT, Martin, NG, Lang, J, Lathrop, GM, Mackie, RM, Mann, GJ, Molven, A, Montgomery, GW, Novaković, S, Olsson, H, Puig, S, Moses, EK, Puig-Butille, JA, Qureshi, AA, Radford-Smith, GL, van der Stoep, N, van Doorn, R, Whiteman, DC, Craig, JE, Schadendorf, D, Simms, LA, Burdon, KP, Song, F, Nyholt, DR, Pooley, KA, Orr, N, Stratigos, AJ, Cust, AE, Ward, SV, Hayward, NK, Han, J, Schulze, H-J, Dunning, AM, Barrett, JH, Newton Bishop, JA, Demenais, F, Amos, CI, MacGregor, S, Iles, MM, Aguilera, P, Alejo, B, Badenas, C, Caño, A, Carrera, C, Kumar, R, Cuellar, F, Dominguez, M, Gabriel, D, Gimenez-Xavier, P, Iglesias, P, Malvehy, J, Marti-Laborda, R, Mila, M, Ogbah, Z, Potrony, M, Easton, DF, Tell, G, Alós, L, Arance, A, Arguís, P, Bennassar, A, Chirife, O, Conill, C, Rull, R, Sánchez, M & Vidal-Sicart, S 2015, 'Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma', Nature Genetics, vol. 47, no. 9, pp. 987-995. https://doi.org/10.1038/ng.3373

TY - JOUR

T1 - Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma

AU - Law, Matthew H.

AU - Bishop, D. Timothy

AU - Pharoah, Paul D. P.

AU - Vilalta, Antonio

AU - Calista, Donato

AU - Landi, Giorgio

AU - Minghetti, Paola

AU - Arcangeli, Fabio

AU - Bertazzi, Pier Alberto

AU - Pastorino, Lorenza

AU - Bruno, William

AU - Andreotti, Virginia

AU - Martinuzzi, Claudia

AU - Swerdlow, Anthony J.

AU - Battistuzzi, Linda

AU - Origone, Paola

AU - Queirolo, Paola

AU - Affleck, Paul

AU - Harrison, Jane

AU - Whittaker, Linda

AU - Kukalizch, Kairen

AU - Leake, Susan

AU - Karpavicius, Birute

AU - Haynes, Sue

AU - Kypreou, Katerina P.

AU - Mack, Tricia

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PY - 2015/9

Y1 - 2015/9

N2 - Thirteen common susceptibility loci have been reproducibly associated with cutaneous malignant melanoma (CMM). We report the results of an international 2-stage meta-analysis of CMM genome-wide association studies (GWAS). This meta-analysis combines 11 GWAS (5 previously unpublished) and a further three stage 2 data sets, totaling 15,990 CMM cases and 26,409 controls. Five loci not previously associated with CMM risk reached genome-wide significance (P <5 × 10−8), as did 2 previously reported but unreplicated loci and all 13 established loci. Newly associated SNPs fall within putative melanocyte regulatory elements, and bioinformatic and expression quantitative trait locus (eQTL) data highlight candidate genes in the associated regions, including one involved in telomere biology.

AB - Thirteen common susceptibility loci have been reproducibly associated with cutaneous malignant melanoma (CMM). We report the results of an international 2-stage meta-analysis of CMM genome-wide association studies (GWAS). This meta-analysis combines 11 GWAS (5 previously unpublished) and a further three stage 2 data sets, totaling 15,990 CMM cases and 26,409 controls. Five loci not previously associated with CMM risk reached genome-wide significance (P <5 × 10−8), as did 2 previously reported but unreplicated loci and all 13 established loci. Newly associated SNPs fall within putative melanocyte regulatory elements, and bioinformatic and expression quantitative trait locus (eQTL) data highlight candidate genes in the associated regions, including one involved in telomere biology.

UR - http://www.scopus.com/inward/record.url?scp=84940734774&partnerID=8YFLogxK

U2 - 10.1038/ng.3373

DO - 10.1038/ng.3373

M3 - Article

C2 - 26237428

SN - 1061-4036

VL - 47

SP - 987

EP - 995

JO - Nature Genetics

JF - Nature Genetics

IS - 9

ER -

Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma

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