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

ABSTRACT: Most genetic susceptibility to cutaneous melanoma remains to be discovered. Meta-analysis genome-wide association study (GWAS) of 36,760 cases of melanoma (67% newly genotyped) and 375,188 controls identified 54 significant (P?

SUBMITTER: Landi MT 

PROVIDER: S-EPMC7255059 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature

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

Landi Maria Teresa MT   Bishop D Timothy DT   MacGregor Stuart S   Machiela Mitchell J MJ   Stratigos Alexander J AJ   Ghiorzo Paola P   Brossard Myriam M   Calista Donato D   Choi Jiyeon J   Fargnoli Maria Concetta MC   Zhang Tongwu T   Rodolfo Monica M   Trower Adam J AJ   Menin Chiara C   Martinez Jacobo J   Hadjisavvas Andreas A   Song Lei L   Stefanaki Irene I   Scolyer Richard R   Yang Rose R   Goldstein Alisa M AM   Potrony Miriam M   Kypreou Katerina P KP   Pastorino Lorenza L   Queirolo Paola P   Pellegrini Cristina C   Cattaneo Laura L   Zawistowski Matthew M   Gimenez-Xavier Pol P   Rodriguez Arantxa A   Elefanti Lisa L   Manoukian Siranoush S   Rivoltini Licia L   Smith Blair H BH   Loizidou Maria A MA   Del Regno Laura L   Massi Daniela D   Mandala Mario M   Khosrotehrani Kiarash K   Akslen Lars A LA   Amos Christopher I CI   Andresen Per A PA   Avril Marie-Françoise MF   Azizi Esther E   Soyer H Peter HP   Bataille Veronique V   Dalmasso Bruna B   Bowdler Lisa M LM   Burdon Kathryn P KP   Chen Wei V WV   Codd Veryan V   Craig Jamie E JE   Dębniak Tadeusz T   Falchi Mario M   Fang Shenying S   Friedman Eitan E   Simi Sarah S   Galan Pilar P   Garcia-Casado Zaida Z   Gillanders Elizabeth M EM   Gordon Scott S   Green Adele A   Gruis Nelleke A NA   Hansson Johan J   Harland Mark M   Harris Jessica J   Helsing Per P   Henders Anjali A   Hočevar Marko M   Höiom Veronica V   Hunter David D   Ingvar Christian C   Kumar Rajiv R   Lang Julie J   Lathrop G Mark GM   Lee Jeffrey E JE   Li Xin X   Lubiński Jan J   Mackie Rona M RM   Malt Maryrose M   Malvehy Josep J   McAloney Kerrie K   Mohamdi Hamida H   Molven Anders A   Moses Eric K EK   Neale Rachel E RE   Novaković Srdjan S   Nyholt Dale R DR   Olsson Håkan H   Orr Nicholas N   Fritsche Lars G LG   Puig-Butille Joan Anton JA   Qureshi Abrar A AA   Radford-Smith Graham L GL   Randerson-Moor Juliette J   Requena Celia C   Rowe Casey C   Samani Nilesh J NJ   Sanna Marianna M   Schadendorf Dirk D   Schulze Hans-Joachim HJ   Simms Lisa A LA   Smithers Mark M   Song Fengju F   Swerdlow Anthony J AJ   van der Stoep Nienke N   Kukutsch Nicole A NA   Visconti Alessia A   Wallace Leanne L   Ward Sarah V SV   Wheeler Lawrie L   Sturm Richard A RA   Hutchinson Amy A   Jones Kristine K   Malasky Michael M   Vogt Aurelie A   Zhou Weiyin W   Pooley Karen A KA   Elder David E DE   Han Jiali J   Hicks Belynda B   Hayward Nicholas K NK   Kanetsky Peter A PA   Brummett Chad C   Montgomery Grant W GW   Olsen Catherine M CM   Hayward Caroline C   Dunning Alison M AM   Martin Nicholas G NG   Evangelou Evangelos E   Mann Graham J GJ   Long Georgina G   Pharoah Paul D P PDP   Easton Douglas F DF   Barrett Jennifer H JH   Cust Anne E AE   Abecasis Goncalo G   Duffy David L DL   Whiteman David C DC   Gogas Helen H   De Nicolo Arcangela A   Tucker Margaret A MA   Newton-Bishop Julia A JA   Peris Ketty K   Chanock Stephen J SJ   Demenais Florence F   Brown Kevin M KM   Puig Susana S   Nagore Eduardo E   Shi Jianxin J   Iles Mark M MM   Law Matthew H MH  

Nature genetics 20200427 5

Most genetic susceptibility to cutaneous melanoma remains to be discovered. Meta-analysis genome-wide association study (GWAS) of 36,760 cases of melanoma (67% newly genotyped) and 375,188 controls identified 54 significant (P < 5 × 10<sup>-8</sup>) loci with 68 independent single nucleotide polymorphisms. 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 GWAS of nev  ...[more]

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