Functional characterization of a multi-cancer risk locus on chr5p15.33 reveals regulation of TERT by ZNF148

Autor: Jun Fang, Jinping Jia, Matthew Makowski, Mai Xu, Zhaoming Wang, Tongwu Zhang, Jason W. Hoskins, Jiyeon Choi, Younghun Han, Mingfeng Zhang, Janelle Thomas, Michael Kovacs, Irene Collins, Marta Dzyadyk, Abbey Thompson, Maura O'Neill, Sudipto Das, Qi Lan, Roelof Koster, PanScan Consortium, TRICL Consortium, GenoMEL Consortium, Rachael S. Stolzenberg-Solomon, Peter Kraft, Brian M. Wolpin, Pascal W. T. C. Jansen, Sara Olson, Katherine A. McGlynn, Peter A. Kanetsky, Nilanjan Chatterjee, Jennifer H. Barrett, Alison M. Dunning, John C. Taylor, Julia A. Newton-Bishop, D. Timothy Bishop, Thorkell Andresson, Gloria M. Petersen, Christopher I. Amos, Mark M. Iles, Katherine L. Nathanson, Maria Teresa Landi, Michiel Vermeulen, Kevin M. Brown, Laufey T. Amundadottir

Publikováno v: Nature Communications, Vol 8, Iss 1, Pp 1-17 (2017)

Genetic variants at multiple loci of chr5p15.33 have been associated with susceptibility to numerous cancers. Here the authors show that the association of one of these loci may be explained by a variant, rs36115365, influencing telomerase reverse tr

Externí odkaz: https://doaj.org/article/6d29a2104a5544a480a010afb3a1a202

Birth cohort-specific trends of sun-related behaviors among individuals from an international consortium of melanoma-prone families

Autor: John Charles A. Lacson, Shawn A. Zamani, Luis Alberto Ribeiro Froes, Nandita Mitra, Lu Qian, Scarlet H. Doyle, Esther Azizi, Claudia Balestrini, D. Timothy Bishop, William Bruno, Blanca Carlos-Ortega, Francisco Cuellar, Anne E. Cust, David E. Elder, Anne-Marie Gerdes, Paola Ghiorzo, Thais C. Grazziotin, Nelleke A. Gruis, Johan Hansson, Marko Hočevar, Veronica Höiom, Elizabeth A. Holland, Christian Ingvar, Gilles Landman, Alejandra Larre-Borges, Graham J. Mann, Montserrat Molgo, Luciana Facure Moredo, Håkan Olsson, Jacoba J. Out-Luiting, Barbara Perić, Dace Pjanova, Susana Puig, Julio Salas-Alanis, Helen Schmid, Karin A. W. Wadt, Julia A. Newton-Bishop, Peter A. Kanetsky, on behalf of the GenoMEL Study Group

Publikováno v: BMC Public Health, Vol 21, Iss 1, Pp 1-16 (2021)

Abstract Background Individuals from melanoma-prone families have similar or reduced sun-protective behaviors compared to the general population. Studies on trends in sun-related behaviors have been temporally and geographically limited. Methods Indi

Externí odkaz: https://doaj.org/article/294d462bfbc04eba8673cab873afcf12

Germline ATM variants predispose to melanoma: a joint analysis across the GenoMEL and MelaNostrum consortia

Autor: Dalmasso, B. Pastorino, L. Nathan, V Shah, N. N. Palmer, J. M. Howlie, M. Johansson, P. A. Freedman, N. D. and Carter, B. D. Beane-Freeman, L. Hicks, B. Molven, A. and Helgadottir, H. Sankar, A. Tsao, H. Stratigos, A. J. and Helsing, P. Van Doorn, R. Gruis, N. A. Visser, M. Wadt, K. A. W. Mann, G. Holland, E. A. Nagore, E. Potrony, M. and Puig, S. Menin, C. Peris, K. Fargnoli, M. C. and Calista, D. Soufir, N. Harland, M. Bishop, T. Kanetsky, P. A. Elder, D. E. Andreotti, V Vanni, I Bruno, W. and Hoiom, V Tucker, M. A. Yang, X. R. Andresen, P. A. and Adams, D. J. Landi, M. T. Hayward, N. K. Goldstein, A. M. and Ghiorzo, P. GenoMEL MelaNostrum Consortia

Purpose Ataxia-Telangiectasia Mutated (ATM) has been implicated in the risk of several cancers, but establishing a causal relationship is often challenging. Although ATM single-nucleotide polymorphisms have been linked to melanoma, few functional all

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::038afa3d1efa85ab381a3269d51fe011
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3030078

Assessment of polygenic architecture and risk prediction based on common variants across fourteen cancers

Autor: Montserrat Garcia-Closas, Ellen L. Goode, Mark M. Iles, Brian M. Wolpin, Stephen J. Chanock, Susan L. Slager, Li Hsu, Clare Turnbull, Ccfr, Michael Hoffmeister, Peter T. Campbell, Maria Teresa Landi, Paul D.P. Pharoah, Amber N. Hurson, Melissa L. Bondy, Roger L. Milne, Peter A. Kanetsky, Simon A. Gayther, Christopher A. Haiman, Nicola J. Camp, Mark A. Jenkins, Margaret Wrensch, Bcac, Ulrike Peters, Jill S. Barnholtz-Sloan, Richard S. Houlston, PanScan, Haoyu Zhang, Christopher I. Amos, Ben Kinnersley, GenoMEL, Florence Demenais, Rosalind A. Eeles, Katherine A. McGlynn, Practical, John K. Wiencke, Gicc, Katherine L. Nathanson, Stolzenberg-Solomon R, Brenda M. Birmann, Rayjean J. Hung, Donghui Li, David C. Whiteman, Ghislaine Scelo, Sonja I. Berndt, Alison P. Klein, Sarah V. Ward, Per Hall, D. Timothy Bishop, Tracy A. O'Mara, Kirsten B. Moysich, Corect, Laufey T. Amundadottir, Marjanka K. Schmidt, Ian Tomlinson, Ocac, Yan Zhang, Gloria M. Petersen, Ali Amin Al Olama, Puya Gharahkhani, Deborah J. Thompson, Paul Brennan, Douglas F. Easton, Celeste Leigh Pearce, InterLymph, Jacques Simard, Mark H. Greene, Zsofia Kote-Jarai, Nilanjan Chatterjee, Ecac, Marlene Danner Dalgaard, Mark P. Purdue, Beatrice Melin, Graham Casey, Rajesh Kumar, Jenny Chang-Claude, Thomas A. Sellers, Stephen B. Gruber, Beacon, James D. McKay, Tecac, Stephanie L. Schmit, Tom Grotmol, Kyriaki Michailidou, Immaculata De Vivo, Joellen M. Schildkraut, Eric J. Jacobs, Fredrik Wiklund, Amanda B. Spurdle, Nathaniel Rothman, Parichoy Pal Choudhury, Peter Kraft, Panc, Renal Cancer Gwas, Neil E. Caporaso, Joe Dennis, Matthew Law, Fredrick R. Schumacher, Harvey A. Risch, Stuart MacGregor, Andrew Berchuck, Ilcco, Oral Cancer Gwas

Publikováno v: Nature Communications, Vol 11, Iss 1, Pp 1-13 (2020)
Zhang, Y D, Hurson, A N, Zhang, H, Choudhury, P P, Easton, D F, Milne, R L, Simard, J, Hall, P, Michailidou, K, Dennis, J, Schmidt, M K, Chang-Claude, J, Gharahkhani, P, Whiteman, D, Campbell, P T, Hoffmeister, M, Jenkins, M, Peters, U, Hsu, L, Gruber, S B, Casey, G, Schmit, S L, O’Mara, T A, Spurdle, A B, Thompson, D J, Tomlinson, I, De Vivo, I, Landi, M T, Law, M H, Iles, M M, Demenais, F, Kumar, R, MacGregor, S, Bishop, D T, Ward, S V, Bondy, M L, Houlston, R, Wiencke, J K, Melin, B, Barnholtz-Sloan, J, Kinnersley, B, Wrensch, M R, Amos, C I, Hung, R J, Brennan, P, McKay, J, Caporaso, N E, Berndt, S I, Birmann, B M, Camp, N J, Kraft, P, Rothman, N, Slager, S L, Berchuck, A, Pharoah, P D P, Sellers, T A, Gayther, S A, Pearce, C L, Goode, E L, Schildkraut, J M, Moysich, K B, Amundadottir, L T, Jacobs, E J, Klein, A P, Petersen, G M, Risch, H A, Stolzenberg-Solomon, R Z, Wolpin, B M, Li, D, Eeles, R A, Haiman, C A, Kote-Jarai, Z, Schumacher, F R, Al Olama, A A, Purdue, M P, Scelo, G, Dalgaard, M D, Greene, M H, Grotmol, T, Kanetsky, P A, McGlynn, K A, Nathanson, K L, Turnbull, C, Wiklund, F, Bishop, D T, Chanock, S J, Chatterjee, N & Garcia-Closas, M 2020, ' Assessment of polygenic architecture and risk prediction based on common variants across fourteen cancers ', Nature Communications, vol. 11, no. 1, 3353 . https://doi.org/10.1038/s41467-020-16483-3
Nature Communications
Zhang, Y D, Hurson, A N, Zhang, H, Choudhury, P P, Easton, D F, Milne, R L, Simard, J, Hall, P, Michailidou, K, Dennis, J, Schmidt, M K, Chang-claude, J, Gharahkhani, P, Whiteman, D, Campbell, P T, Hoffmeister, M, Jenkins, M, Peters, U, Hsu, L, Gruber, S B, Casey, G, Schmit, S L, O’mara, T A, Spurdle, A B, Thompson, D J, Tomlinson, I, De Vivo, I, Landi, M T, Law, M H, Iles, M M, Demenais, F, Kumar, R, Macgregor, S, Bishop, D T, Ward, S V, Bondy, M L, Houlston, R, Wiencke, J K, Melin, B, Barnholtz-sloan, J, Kinnersley, B, Wrensch, M R, Amos, C I, Hung, R J, Brennan, P, Mckay, J, Caporaso, N E, Berndt, S I, Birmann, B M, Camp, N J, Kraft, P, Rothman, N, Slager, S L, Berchuck, A, Pharoah, P D P, Sellers, T A, Gayther, S A, Pearce, C L, Goode, E L, Schildkraut, J M, Moysich, K B, Amundadottir, L T, Jacobs, E J, Klein, A P, Petersen, G M, Risch, H A, Stolzenberg-solomon, R Z, Wolpin, B M, Li, D, Eeles, R A, Haiman, C A, Kote-jarai, Z, Schumacher, F R, Al Olama, A A, Purdue, M P, Scelo, G, Dalgaard, M D, Greene, M H, Grotmol, T, Kanetsky, P A, Mcglynn, K A, Nathanson, K L, Turnbull, C, Wiklund, F, Chanock, S J, Chatterjee, N & Garcia-closas, M 2020, ' Assessment of polygenic architecture and risk prediction based on common variants across fourteen cancers ', Nature Communications, vol. 11, no. 1 . https://doi.org/10.1038/s41467-020-16483-3

Genome-wide association studies (GWAS) have led to the identification of hundreds of susceptibility loci across cancers, but the impact of further studies remains uncertain. Here we analyse summary-level data from GWAS of European ancestry across fou

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e8e609c25614fbed083ff54499bd1fd
https://www.repository.cam.ac.uk/handle/1810/324794

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

Autor: Landi MT, Bishop DT, MacGregor S, Machiela MJ, Stratigos AJ, Ghiorzo P, Brossard M, Calista D, Choi J, Fargnoli MC, Zhang T, Rodolfo M, Trower AJ, Menin C, Martinez J, Hadjisavvas A, Song L, Stefanaki I, Scolyer R, Yang R, Goldstein AM, Potrony M, Kypreou KP, Pastorino L, Queirolo P, Pellegrini C, Cattaneo L, Zawistowski M, Gimenez-Xavier P, Rodriguez A, Elefanti L, Manoukian S, Rivoltini L, Smith BH, Loizidou MA, Del Regno L, Massi D, Mandala M, Khosrotehrani K, Akslen LA, Amos CI, Andresen PA, Avril MF, Azizi E, Soyer HP, Bataille V, Dalmasso B, Bowdler LM, Burdon KP, Chen WV, Codd V, Craig JE, Debniak T, Falchi M, Fang S, Friedman E, Simi S, Galan P, Garcia-Casado Z, Gillanders EM, Gordon S, Green A, Gruis NA, Hansson J, Harland M, Harris J, Helsing P, Henders A, Hocevar M, Höiom V, Hunter D, Ingvar C, Kumar R, Lang J, Lathrop GM, Lee JE, Li X, Lubinski J, Mackie RM, Malt M, Malvehy J, McAloney K, Mohamdi H, Molven A, Moses EK, Neale RE, Novakovic S, Nyholt DR, Olsson H, Orr N, Fritsche LG, Puig-Butille JA, Qureshi AA, Radford-Smith GL, Randerson-Moor J, Requena C, Rowe C, Samani NJ, Sanna M, Schadendorf D, Schulze HJ, Simms LA, Smithers M, Song F, Swerdlow AJ, van der Stoep N, Kukutsch NA, Visconti A, Wallace L, Ward SV, Wheeler L, Sturm RA, Hutchinson A, Jones K, Malasky M, Vogt A, Zhou W, Pooley KA, Elder DE, Han J, Hicks B, Hayward NK, Kanetsky PA, Brummett C, Montgomery GW, Olsen CM, Hayward C, Dunning AM, Martin NG, Evangelou E, Mann GJ, Long G, Pharoah PDP, Easton DF, Barrett JH, Cust AE, Abecasis G, Duffy DL, Whiteman DC, Gogas H, De Nicolo A, Tucker MA, Newton-Bishop JA, GenoMEL Consortium, Q-MEGA and QTWIN Investigators, ATHENS Melanoma Study Group, 23andMe, SDH Study Group, IBD Investigators, Essen-Heidelberg Investigators, AMFS Investigators, MelaNostrum Consortium, Peris K, Chanock SJ, Demenais F, Brown KM, Puig S, Nagore E, Shi J, Iles MM, Law MH

Publikováno v: NATURE GENETICS
r-FISABIO. Repositorio Institucional de Producción Científica
instname
r-FISABIO: Repositorio Institucional de Producción Científica
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)

Meta-analysis of 36,760 cases and 375,188 controls identifies 54 loci associated with susceptibility to cutaneous melanoma. Further analysis combining nevus count and hair color GWAS results provide insights into the genetic architecture of melanoma.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::49ffdffa88c2703a078a866f66e1098f
http://hdl.handle.net/11391/1480983