Germline variants are associated with increased primary melanoma tumor thickness at diagnosis

Autor: Mangantig, E, MacGregor, S, Iles, MM, Scolyer, RA, Cust, AE, Hayward, NK, Montgomery, GW, Duffy, DL, Thompson, JF, Henders, A, Bowdler, L, Rowe, C, Cadby, G, Mann, GJ, Whiteman, DC, Long, GV, Ward, SV, Khosrotehrani, K, Barrett, JH, Law, MH

Germline genetic variants have been identified, which predispose individuals and families to develop melanoma. Tumor thickness is the strongest predictor of outcome for clinically localized primary melanoma patients. We sought to determine whether th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::72aa7bf86563de9836859f6cf2bc570e
https://eprints.whiterose.ac.uk/176816/3/ddaa222.pdf

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

Is there a causal relationship between vitamin D and melanoma risk? : A Mendelian randomization study

Autor: Liyanage, UE, Law, MH, Melanoma Meta-analysis Consortium, Barrett, JH, Iles, MM, MacGregor, S

BACKGROUND: Several pre-clinical studies have identified the anti-proliferative effects of 25-hydroxyvitamin D (25(OH) D; vitamin D). Ultraviolet radiation (UVR) is essential for vitamin D synthesis yet increases the risk of melanoma. Observational s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::d3c8a23853088f847e0ee5fdc4df1e0e
https://eprints.whiterose.ac.uk/147696/1/Manuscript_VitaminD_melanoma_Final.docx

Assessing the incremental contribution of common genomic variants to melanoma risk prediction in two population-based studies

Autor: Cust, AE, Drummond, M, Kanetsky, PA, Australian Melanoma Family Study Investigators, Leeds case-control study Investigators, Goldstein, AM, Barrett, JH, MacGregor, S, Law, MH, Iles, MM, Bui, M, Hopper, JL, Brossard, M, Demenais, F, Taylor, JC, Hoggart, C, Brown, KM, Landi, MT, Newton-Bishop, JA, Mann, GJ, Bishop, DT

It is unclear to what degree genomic and traditional (phenotypic and environmental) risk factors overlap in their prediction of melanoma risk. We evaluated the incremental contribution of common genomic variants (in pigmentation, nevus and other path

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::32d4eccfe13a72f75138465cfa98f98d
https://eprints.whiterose.ac.uk/131554/8/1-s2.0-S0022202X18320463-main.pdf

Genome-wide Association Study of Response to Methotrexate in Early Rheumatoid Arthritis Patients

Autor: Taylor, JC, Bongartz, T, Massey, J, Mifsud, B, Spiliopoulou, A, Scott, IC, Wang, J, Morgan, M, Plant, D, Colombo, M, Orchard, P, Twigg, S, McInnes, IB, Porter, D, Freeston, JE, Nam, JL, Cordell, HJ, Isaacs, JD, Strathdee, JL, Arnett, D, de Hair, MJH, Tak, PP, Aslibekyan, S, van Vollenhoven, RS, Padyukov, L, Bridges, SL, Pitzalis, C, Cope, AP, Verstappen, SMM, Emery, P, Barnes, MR, Agakov, F, McKeigue, P, Mushiroda, T, Kubo, M, Weinshilboum, R, Barton, A, Morgan, AW, Barrett, JH, on behalf of the MATURA and PAMERA consortia

Methotrexate (MTX) monotherapy is a common first treatment for rheumatoid arthritis (RA), but many patients do not respond adequately. In order to identify genetic predictors of response, we have combined data from two consortia to carry out a genome

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::60e9c2fb6ff8fbbbe6d6a2ccc1ff8622