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Page 1
A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma.
Yokoyama S, Woods SL, Boyle GM, Aoude LG, MacGregor S, Zismann V, Gartside M, Cust AE, Haq R, Harland M, Taylor JC, Duffy DL, Holohan K, Dutton-Regester K, Palmer JM, Bonazzi V, Stark MS, Symmons J, Law MH, Schmidt C, Lanagan C, O'Connor L, Holland EA, Schmid H, Maskiell JA, Jetann J, Ferguson M, Jenkins MA, Kefford RF, Giles GG, Armstrong BK, Aitken JF, Hopper JL, Whiteman DC, Pharoah PD, Easton DF, Dunning AM, Newton-Bishop JA, Montgomery GW, Martin NG, Mann GJ, Bishop DT, Tsao H, Trent JM, Fisher DE, Hayward NK, Brown KM. Yokoyama S, et al. Among authors: schmid h. Nature. 2011 Nov 13;480(7375):99-103. doi: 10.1038/nature10630. Nature. 2011. PMID: 22080950 Free PMC article.
Common sequence variants on 20q11.22 confer melanoma susceptibility.
Brown KM, Macgregor S, Montgomery GW, Craig DW, Zhao ZZ, Iyadurai K, Henders AK, Homer N, Campbell MJ, Stark M, Thomas S, Schmid H, Holland EA, Gillanders EM, Duffy DL, Maskiell JA, Jetann J, Ferguson M, Stephan DA, Cust AE, Whiteman D, Green A, Olsson H, Puig S, Ghiorzo P, Hansson J, Demenais F, Goldstein AM, Gruis NA, Elder DE, Bishop JN, Kefford RF, Giles GG, Armstrong BK, Aitken JF, Hopper JL, Martin NG, Trent JM, Mann GJ, Hayward NK. Brown KM, et al. Among authors: schmid h. Nat Genet. 2008 Jul;40(7):838-40. doi: 10.1038/ng.163. Epub 2008 May 18. Nat Genet. 2008. PMID: 18488026 Free PMC article.
Population-based, case-control-family design to investigate genetic and environmental influences on melanoma risk: Australian Melanoma Family Study.
Cust AE, Schmid H, Maskiell JA, Jetann J, Ferguson M, Holland EA, Agha-Hamilton C, Jenkins MA, Kelly J, Kefford RF, Giles GG, Armstrong BK, Aitken JF, Hopper JL, Mann GJ. Cust AE, et al. Among authors: schmid h. Am J Epidemiol. 2009 Dec 15;170(12):1541-54. doi: 10.1093/aje/kwp307. Epub 2009 Nov 3. Am J Epidemiol. 2009. PMID: 19887461 Free PMC article.
Melanoma risk for CDKN2A mutation carriers who are relatives of population-based case carriers in Australia and the UK.
Cust AE, Harland M, Makalic E, Schmidt D, Dowty JG, Aitken JF, Agha-Hamilton C, Armstrong BK, Barrett JH, Chan M, Chang YM, Gascoyne J, Giles GG, Holland EA, Kefford RF, Kukalizch K, Lowery J, Randerson-Moor JA, Schmid H, Taylor CF, Whitaker L, Hopper JL, Newton-Bishop JA, Mann GJ, Bishop DT, Jenkins MA. Cust AE, et al. Among authors: schmid h. J Med Genet. 2011 Apr;48(4):266-72. doi: 10.1136/jmg.2010.086538. Epub 2011 Feb 15. J Med Genet. 2011. PMID: 21325014 Free PMC article.
Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3.
Macgregor S, Montgomery GW, Liu JZ, Zhao ZZ, Henders AK, Stark M, Schmid H, Holland EA, Duffy DL, Zhang M, Painter JN, Nyholt DR, Maskiell JA, Jetann J, Ferguson M, Cust AE, Jenkins MA, Whiteman DC, Olsson H, Puig S, Bianchi-Scarrà G, Hansson J, Demenais F, Landi MT, Dębniak T, Mackie R, Azizi E, Bressac-de Paillerets B, Goldstein AM, Kanetsky PA, Gruis NA, Elder DE, Newton-Bishop JA, Bishop DT, Iles MM, Helsing P, Amos CI, Wei Q, Wang LE, Lee JE, Qureshi AA, Kefford RF, Giles GG, Armstrong BK, Aitken JF, Han J, Hopper JL, Trent JM, Brown KM, Martin NG, Mann GJ, Hayward NK. Macgregor S, et al. Among authors: schmid h. Nat Genet. 2011 Oct 9;43(11):1114-8. doi: 10.1038/ng.958. Nat Genet. 2011. PMID: 21983785 Free PMC article.
Genome-wide association study identifies three new melanoma susceptibility loci.
Barrett JH, Iles MM, Harland M, Taylor JC, Aitken JF, Andresen PA, Akslen LA, Armstrong BK, Avril MF, Azizi E, Bakker B, Bergman W, Bianchi-Scarrà G, Bressac-de Paillerets B, Calista D, Cannon-Albright LA, Corda E, Cust AE, Dębniak T, Duffy D, Dunning AM, Easton DF, Friedman E, Galan P, Ghiorzo P, Giles GG, Hansson J, Hocevar M, Höiom V, Hopper JL, Ingvar C, Janssen B, Jenkins MA, Jönsson G, Kefford RF, Landi G, Landi MT, Lang J, Lubiński J, Mackie R, Malvehy J, Martin NG, Molven A, Montgomery GW, van Nieuwpoort FA, Novakovic S, Olsson H, Pastorino L, Puig S, Puig-Butille JA, Randerson-Moor J, Snowden H, Tuominen R, Van Belle P, van der Stoep N, Whiteman DC, Zelenika D, Han J, Fang S, Lee JE, Wei Q, Lathrop GM, Gillanders EM, Brown KM, Goldstein AM, Kanetsky PA, Mann GJ, Macgregor S, Elder DE, Amos CI, Hayward NK, Gruis NA, Demenais F, Bishop JA, Bishop DT; GenoMEL Consortium. Barrett JH, et al. Nat Genet. 2011 Oct 9;43(11):1108-13. doi: 10.1038/ng.959. Nat Genet. 2011. PMID: 21983787 Free PMC article.
Functional characterization of a multi-cancer risk locus on chr5p15.33 reveals regulation of TERT by ZNF148.
Fang J, Jia J, Makowski M, Xu M, Wang Z, Zhang T, Hoskins JW, Choi J, Han Y, Zhang M, Thomas J, Kovacs M, Collins I, Dzyadyk M, Thompson A, O'Neill M, Das S, Lan Q, Koster R; PanScan Consortium; TRICL Consortium; GenoMEL Consortium; Stolzenberg-Solomon RS, Kraft P, Wolpin BM, Jansen PWTC, Olson S, McGlynn KA, Kanetsky PA, Chatterjee N, Barrett JH, Dunning AM, Taylor JC, Newton-Bishop JA, Bishop DT, Andresson T, Petersen GM, Amos CI, Iles MM, Nathanson KL, Landi MT, Vermeulen M, Brown KM, Amundadottir LT. Fang J, et al. Nat Commun. 2017 May 2;8:15034. doi: 10.1038/ncomms15034. Nat Commun. 2017. PMID: 28447668 Free PMC article.
Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanoma.
Aoude LG, Pritchard AL, Robles-Espinoza CD, Wadt K, Harland M, Choi J, Gartside M, Quesada V, Johansson P, Palmer JM, Ramsay AJ, Zhang X, Jones K, Symmons J, Holland EA, Schmid H, Bonazzi V, Woods S, Dutton-Regester K, Stark MS, Snowden H, van Doorn R, Montgomery GW, Martin NG, Keane TM, López-Otín C, Gerdes AM, Olsson H, Ingvar C, Borg A, Gruis NA, Trent JM, Jönsson G, Bishop DT, Mann GJ, Newton-Bishop JA, Brown KM, Adams DJ, Hayward NK. Aoude LG, et al. Among authors: schmid h. J Natl Cancer Inst. 2014 Dec 13;107(2):dju408. doi: 10.1093/jnci/dju408. Print 2015 Feb. J Natl Cancer Inst. 2014. PMID: 25505254 Free PMC article.
Prevalence and predictors of germline CDKN2A mutations for melanoma cases from Australia, Spain and the United Kingdom.
Harland M, Cust AE, Badenas C, Chang YM, Holland EA, Aguilera P, Aitken JF, Armstrong BK, Barrett JH, Carrera C, Chan M, Gascoyne J, Giles GG, Agha-Hamilton C, Hopper JL, Jenkins MA, Kanetsky PA, Kefford RF, Kolm I, Lowery J, Malvehy J, Ogbah Z, Puig-Butille JA, Orihuela-Segalés J, Randerson-Moor JA, Schmid H, Taylor CF, Whitaker L, Bishop DT, Mann GJ, Newton-Bishop JA, Puig S. Harland M, et al. Among authors: schmid h. Hered Cancer Clin Pract. 2014 Nov 20;12(1):20. doi: 10.1186/1897-4287-12-20. eCollection 2014. Hered Cancer Clin Pract. 2014. PMID: 25780468 Free PMC article.
1,398 results