Increased Histological Tumor Pigmentation in Uveal Melanoma Is Related to Eye Color and Loss of Chromosome 3/BAP1.
Ophthalmology Science
Gelmi, Maria Chiara MC; Wierenga, Annemijn P A APA; Kroes, Wilma G M WGM; van Duinen, Sjoerd G SG; Karuntu, Jessica S JS; Marinkovic, Marina M; Bleeker, Jaco C JC; Luyten, Gregorius P M GPM; Vu, T H Khanh THK; Verdijk, Robert M RM; Jager, Martine J MJ
Integrated longitudinal analysis of adult grade 4 diffuse gliomas with long-term relapse interval revealed upregulation of TGF-β signaling in recurrent tumors.
Neuro-Oncology
Kashani, Elham E; Schnidrig, Désirée D; Hashemi Gheinani, Ali A; Ninck, Martina Selina MS; Zens, Philipp P; Maragkou, Theoni T; Baumgartner, Ulrich U; Schucht, Philippe P; Rätsch, Gunnar G; Rubin, Mark A MA; Berezowska, Sabina S; Ng, Charlotte K Y CKY; Vassella, Erik E; ,
Association of Melanoma-Risk Variants with Primary Melanoma Tumor Prognostic Characteristics and Melanoma-Specific Survival in the GEM Study.
Current Oncology (Toronto, Ont.)
Davari, Danielle R DR; Orlow, Irene I; Kanetsky, Peter A PA; Luo, Li L; Busam, Klaus J KJ; Sharma, Ajay A; Kricker, Anne A; Cust, Anne E AE; Anton-Culver, Hoda H; Gruber, Stephen B SB; Gallagher, Richard P RP; Zanetti, Roberto R; Rosso, Stefano S; Sacchetto, Lidia L; Dwyer, Terence T; Gibbs, David C DC; Ollila, David W DW; Begg, Colin B CB; Berwick, Marianne M; Thomas, Nancy E NE
Association of Melanoma-Risk Variants with Primary Melanoma Tumor Prognostic Characteristics and Melanoma-Specific Survival in the GEM Study.
Current Oncology (Toronto, Ont.)
Davari, Danielle R DR; Orlow, Irene I; Kanetsky, Peter A PA; Luo, Li L; Busam, Klaus J KJ; Sharma, Ajay A; Kricker, Anne A; Cust, Anne E AE; Anton-Culver, Hoda H; Gruber, Stephen B SB; Gallagher, Richard P RP; Zanetti, Roberto R; Rosso, Stefano S; Sacchetto, Lidia L; Dwyer, Terence T; Gibbs, David C DC; Ollila, David W DW; Begg, Colin B CB; Berwick, Marianne M; Thomas, Nancy E NE
A large Canadian cohort provides insights into the genetic architecture of human hair colour.
Communications Biology
Lona-Durazo, Frida F; Mendes, Marla M; Thakur, Rohit R; Funderburk, Karen K; Zhang, Tongwu T; Kovacs, Michael A MA; Choi, Jiyeon J; Brown, Kevin M KM; Parra, Esteban J EJ
Genome-wide association study in almost 195,000 individuals identifies 50 previously unidentified genetic loci for eye color.
Science Advances
Simcoe, Mark M; Valdes, Ana A; Liu, Fan F; Furlotte, Nicholas A NA; Evans, David M DM; Hemani, Gibran G; Ring, Susan M SM; Smith, George Davey GD; Duffy, David L DL; Zhu, Gu G; Gordon, Scott D SD; Medland, Sarah E SE; Vuckovic, Dragana D; Girotto, Giorgia G; Sala, Cinzia C; Catamo, Eulalia E; Concas, Maria Pina MP; Brumat, Marco M; Gasparini, Paolo P; Toniolo, Daniela D; Cocca, Massimiliano M; Robino, Antonietta A; Yazar, Seyhan S; Hewitt, Alex A; Wu, Wenting W; Kraft, Peter P; Hammond, Christopher J CJ; Shi, Yuan Y; Chen, Yan Y; Zeng, Changqing C; Klaver, Caroline C W CCW; Uitterlinden, Andre G AG; Ikram, M Arfan MA; Hamer, Merel A MA; van Duijn, Cornelia M CM; Nijsten, Tamar T; Han, Jiali J; Mackey, David A DA; Martin, Nicholas G NG; Cheng, Ching-Yu CY; , ; , ; Hinds, David A DA; Spector, Timothy D TD; Kayser, Manfred M; Hysi, Pirro G PG
Genome-wide association study in almost 195,000 individuals identifies 50 previously unidentified genetic loci for eye color.
Science Advances
Simcoe, Mark M; Valdes, Ana A; Liu, Fan F; Furlotte, Nicholas A NA; Evans, David M DM; Hemani, Gibran G; Ring, Susan M SM; Smith, George Davey GD; Duffy, David L DL; Zhu, Gu G; Gordon, Scott D SD; Medland, Sarah E SE; Vuckovic, Dragana D; Girotto, Giorgia G; Sala, Cinzia C; Catamo, Eulalia E; Concas, Maria Pina MP; Brumat, Marco M; Gasparini, Paolo P; Toniolo, Daniela D; Cocca, Massimiliano M; Robino, Antonietta A; Yazar, Seyhan S; Hewitt, Alex A; Wu, Wenting W; Kraft, Peter P; Hammond, Christopher J CJ; Shi, Yuan Y; Chen, Yan Y; Zeng, Changqing C; Klaver, Caroline C W CCW; Uitterlinden, Andre G AG; Ikram, M Arfan MA; Hamer, Merel A MA; van Duijn, Cornelia M CM; Nijsten, Tamar T; Han, Jiali J; Mackey, David A DA; Martin, Nicholas G NG; Cheng, Ching-Yu CY; , ; , ; Hinds, David A DA; Spector, Timothy D TD; Kayser, Manfred M; Hysi, Pirro G PG
Germline variants are associated with increased primary melanoma tumor thickness at diagnosis.
Human Molecular Genetics
Mangantig, Ernest E; MacGregor, Stuart S; Iles, Mark M MM; Scolyer, Richard A RA; Cust, Anne E AE; Hayward, Nicholas K NK; Montgomery, Grant W GW; Duffy, David L DL; Thompson, John F JF; Henders, Anjali A; Bowdler, Lisa L; Rowe, Casey C; Cadby, Gemma G; Mann, Graham J GJ; Whiteman, David C DC; Long, Georgina V GV; Ward, Sarah V SV; Khosrotehrani, Kiarash K; Barrett, Jennifer H JH; Law, Matthew H MH
Skin pigmentation polymorphisms associated with increased risk of melanoma in a case-control sample from southern Brazil.
Bmc Cancer
Reis, Larissa B LB; Bakos, Renato M RM; Vianna, Fernanda S L FSL; Macedo, Gabriel S GS; Jacovas, Vanessa C VC; Ribeiro-Dos-Santos, André M AM; Santos, Sidney S; Bakos, Lúcio L; Ashton-Prolla, Patricia P
Association of Known Melanoma Risk Factors with Primary Melanoma of the Scalp and Neck.
Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Wood, Renee P RP; Heyworth, Jane S JS; McCarthy, Nina S NS; Mauguen, Audrey A; Berwick, Marianne M; Thomas, Nancy E NE; Millward, Michael J MJ; Anton-Culver, Hoda H; Cust, Anne E AE; Dwyer, Terence T; Gallagher, Richard P RP; Gruber, Stephen B SB; Kanetsky, Peter A PA; Orlow, Irene I; Rosso, Stefano S; Moses, Eric K EK; Begg, Colin B CB; Ward, Sarah V SV
Exploring the possibility of predicting human head hair greying from DNA using whole-exome and targeted NGS data.
Bmc Genomics
Pośpiech, Ewelina E; Kukla-Bartoszek, Magdalena M; Karłowska-Pik, Joanna J; Zieliński, Piotr P; Woźniak, Anna A; Boroń, Michał M; Dąbrowski, Michał M; Zubańska, Magdalena M; Jarosz, Agata A; Grzybowski, Tomasz T; Płoski, Rafał R; Spólnicka, Magdalena M; Branicki, Wojciech W
Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility.
Nature Genetics
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
Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.
Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Inherited Melanoma Risk Variants Associated with Histopathologically Amelanotic Melanoma.
The Journal Of Investigative Dermatology
Gibbs, David Corley DC; Orlow, Irene I; Vernali, Steven S; Powell, Helen B HB; Kanetsky, Peter A PA; Luo, Li L; Busam, Klaus J KJ; Sharma, Ajay A; Kricker, Anne A; Armstrong, Bruce K BK; Cust, Anne E AE; Anton-Culver, Hoda H; Gruber, Stephen B SB; Gallagher, Richard P RP; Zanetti, Roberto R; Rosso, Stefano S; Sacchetto, Lidia L; Dwyer, Terence T; Ollila, David W DW; Begg, Colin B CB; Berwick, Marianne M; Thomas, Nancy E NE; ,
Meta-analysis of GWA studies provides new insights on the genetic architecture of skin pigmentation in recently admixed populations.
Bmc Genetics
Lona-Durazo, Frida F; Hernandez-Pacheco, Natalia N; Fan, Shaohua S; Zhang, Tongwu T; Choi, Jiyeon J; Kovacs, Michael A MA; Loftus, Stacie K SK; Le, Phuong P; Edwards, Melissa M; Fortes-Lima, Cesar A CA; Eng, Celeste C; Huntsman, Scott S; Hu, Donglei D; Gómez-Cabezas, Enrique Javier EJ; Marín-Padrón, Lilia Caridad LC; Grauholm, Jonas J; Mors, Ole O; Burchard, Esteban G EG; Norton, Heather L HL; Pavan, William J WJ; Brown, Kevin M KM; Tishkoff, Sarah S; Pino-Yanes, Maria M; Beleza, Sandra S; Marcheco-Teruel, Beatriz B; Parra, Esteban J EJ
A study in scarlet: MC1R as the main predictor of red hair and exemplar of the flip-flop effect.
Human Molecular Genetics
Zorina-Lichtenwalter, Katerina K; Lichtenwalter, Ryan N RN; Zaykin, Dima V DV; Parisien, Marc M; Gravel, Simon S; Bortsov, Andrey A; Diatchenko, Luda L
A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.
Assessment of rosacea symptom severity by genome-wide association study and expression analysis highlights immuno-inflammatory and skin pigmentation genes.
Human Molecular Genetics
Aponte, Jennifer L JL; Chiano, Mathias N MN; Yerges-Armstrong, Laura M LM; Hinds, David A DA; Tian, Chao C; Gupta, Akanksha A; Guo, Cong C; Fraser, Dana J DJ; Freudenberg, Johannes M JM; Rajpal, Deepak K DK; Ehm, Margaret G MG; Waterworth, Dawn M DM
Inherited Genetic Variants Associated with Melanoma BRAF/NRAS Subtypes.
The Journal Of Investigative Dermatology
Thomas, Nancy E NE; Edmiston, Sharon N SN; Orlow, Irene I; Kanetsky, Peter A PA; Luo, Li L; Gibbs, David C DC; Parrish, Eloise A EA; Hao, Honglin H; Busam, Klaus J KJ; Armstrong, Bruce K BK; Kricker, Anne A; Cust, Anne E AE; Anton-Culver, Hoda H; Gruber, Stephen B SB; Gallagher, Richard P RP; Zanetti, Roberto R; Rosso, Stefano S; Sacchetto, Lidia L; Dwyer, Terence T; Ollila, David W DW; Begg, Colin B CB; Berwick, Marianne M; Conway, Kathleen K; ,
Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability.
Nature Genetics
Hysi, Pirro G PG; Valdes, Ana M AM; Liu, Fan F; Furlotte, Nicholas A NA; Evans, David M DM; Bataille, Veronique V; Visconti, Alessia A; Hemani, Gibran G; McMahon, George G; Ring, Susan M SM; Smith, George Davey GD; Duffy, David L DL; Zhu, Gu G; Gordon, Scott D SD; Medland, Sarah E SE; Lin, Bochao D BD; Willemsen, Gonneke G; Jan Hottenga, Jouke J; Vuckovic, Dragana D; Girotto, Giorgia G; Gandin, Ilaria I; Sala, Cinzia C; Concas, Maria Pina MP; Brumat, Marco M; Gasparini, Paolo P; Toniolo, Daniela D; Cocca, Massimiliano M; Robino, Antonietta A; Yazar, Seyhan S; Hewitt, Alex W AW; Chen, Yan Y; Zeng, Changqing C; Uitterlinden, Andre G AG; Ikram, M Arfan MA; Hamer, Merel A MA; van Duijn, Cornelia M CM; Nijsten, Tamar T; Mackey, David A DA; Falchi, Mario M; Boomsma, Dorret I DI; Martin, Nicholas G NG; , ; Hinds, David A DA; Kayser, Manfred M; Spector, Timothy D TD
Population genomics of Mesolithic Scandinavia: Investigating early postglacial migration routes and high-latitude adaptation.
Plos Biology
Günther, Torsten T; Malmström, Helena H; Svensson, Emma M EM; Omrak, Ayça A; Sánchez-Quinto, Federico F; Kılınç, Gülşah M GM; Krzewińska, Maja M; Eriksson, Gunilla G; Fraser, Magdalena M; Edlund, Hanna H; Munters, Arielle R AR; Coutinho, Alexandra A; Simões, Luciana G LG; Vicente, Mário M; Sjölander, Anders A; Jansen Sellevold, Berit B; Jørgensen, Roger R; Claes, Peter P; Shriver, Mark D MD; Valdiosera, Cristina C; Netea, Mihai G MG; Apel, Jan J; Lidén, Kerstin K; Skar, Birgitte B; Storå, Jan J; Götherström, Anders A; Jakobsson, Mattias M
Functional melanoma-risk variant IRF4 rs12203592 associated with Breslow thickness: a pooled international study of primary melanomas.
The British Journal Of Dermatology
Gibbs, D C DC; Ward, S V SV; Orlow, I I; Cadby, G G; Kanetsky, P A PA; Luo, L L; Busam, K J KJ; Kricker, A A; Armstrong, B K BK; Cust, A E AE; Anton-Culver, H H; Gallagher, R P RP; Zanetti, R R; Rosso, S S; Sacchetto, L L; Ollila, D W DW; Begg, C B CB; Berwick, M M; Thomas, N E NE; ,
Variants at the OCA2/HERC2 locus affect time to first cutaneous squamous cell carcinoma in solid organ transplant recipients collected using two different study designs.
The British Journal Of Dermatology
Wei, L L; Allain, D C DC; Bernhardt, M N MN; Gillespie, J L JL; Peters, S B SB; Iwenofu, O H OH; Nelson, H H HH; Arron, S T ST; Toland, A E AE
Novel quantitative pigmentation phenotyping enhances genetic association, epistasis, and prediction of human eye colour.
Scientific Reports
Wollstein, Andreas A; Walsh, Susan S; Liu, Fan F; Chakravarthy, Usha U; Rahu, Mati M; Seland, Johan H JH; Soubrane, Gisèle G; Tomazzoli, Laura L; Topouzis, Fotis F; Vingerling, Johannes R JR; Vioque, Jesus J; Böhringer, Stefan S; Fletcher, Astrid E AE; Kayser, Manfred M
Chad Genetic Diversity Reveals an African History Marked by Multiple Holocene Eurasian Migrations.
American Journal Of Human Genetics
Haber, Marc M; Mezzavilla, Massimo M; Bergström, Anders A; Prado-Martinez, Javier J; Hallast, Pille P; Saif-Ali, Riyadh R; Al-Habori, Molham M; Dedoussis, George G; Zeggini, Eleftheria E; Blue-Smith, Jason J; Wells, R Spencer RS; Xue, Yali Y; Zalloua, Pierre A PA; Tyler-Smith, Chris C
Genetic markers of pigmentation are novel risk loci for uveal melanoma.
Scientific Reports
Ferguson, Robert R; Vogelsang, Matjaz M; Ucisik-Akkaya, Esma E; Rai, Karan K; Pilarski, Robert R; Martinez, Carlos N CN; Rendleman, Justin J; Kazlow, Esther E; Nagdimov, Khagay K; Osman, Iman I; Klein, Robert J RJ; Davidorf, Frederick H FH; Cebulla, Colleen M CM; Abdel-Rahman, Mohamed H MH; Kirchhoff, Tomas T
Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma.
Nature Genetics
Law, Matthew H MH; Bishop, D Timothy DT; Lee, Jeffrey E JE; Brossard, Myriam M; Martin, Nicholas G NG; Moses, Eric K EK; Song, Fengju F; Barrett, Jennifer H JH; Kumar, Rajiv R; Easton, Douglas F DF; Pharoah, Paul D P PDP; Swerdlow, Anthony J AJ; Kypreou, Katerina P KP; Taylor, John C JC; Harland, Mark M; Randerson-Moor, Juliette J; Akslen, Lars A LA; Andresen, Per A PA; Avril, Marie-Françoise MF; Azizi, Esther E; Scarrà, Giovanna Bianchi GB; Brown, Kevin M KM; Dębniak, Tadeusz T; Duffy, David L DL; Elder, David E DE; Fang, Shenying S; Friedman, Eitan E; Galan, Pilar P; Ghiorzo, Paola P; Gillanders, Elizabeth M EM; Goldstein, Alisa M AM; Gruis, Nelleke A NA; Hansson, Johan J; Helsing, Per P; Hočevar, Marko M; Höiom, Veronica V; Ingvar, Christian C; Kanetsky, Peter A PA; Chen, Wei V WV; , ; , ; , ; , ; , ; , ; Landi, Maria Teresa MT; Lang, Julie J; Lathrop, G Mark GM; Lubiński, Jan J; Mackie, Rona M RM; Mann, Graham J GJ; Molven, Anders A; Montgomery, Grant W GW; Novaković, Srdjan S; Olsson, Håkan H; Puig, Susana S; Puig-Butille, Joan Anton JA; Qureshi, Abrar A AA; Radford-Smith, Graham L GL; van der Stoep, Nienke N; van Doorn, Remco R; Whiteman, David C DC; Craig, Jamie E JE; Schadendorf, Dirk D; Simms, Lisa A LA; Burdon, Kathryn P KP; Nyholt, Dale R DR; Pooley, Karen A KA; Orr, Nick N; Stratigos, Alexander J AJ; Cust, Anne E AE; Ward, Sarah V SV; Hayward, Nicholas K NK; Han, Jiali J; Schulze, Hans-Joachim HJ; Dunning, Alison M AM; Bishop, Julia A Newton JAN; Demenais, Florence F; Amos, Christopher I CI; MacGregor, Stuart S; Iles, Mark M MM