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868 results

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Page 1
The MC1R r allele does not increase melanoma risk in MITF E318K carriers.
Wallingford CK, Demeshko A, Krishnakripa AK, Smit DJ, Duffy DL, Betz-Stablein B, Pflugfelder A, Jagirdar K, Holland E, Mann GJ, Primiero CA, Yanes T, Malvehy J, Badenas C, Carrera C, Aguilera P, Olsen CM, Ward SV, Haass NK, Sturm RA, Puig S, Whiteman DC, Law MH, Cust AE, Potrony M, Soyer HP, McInerney-Leo AM. Wallingford CK, et al. Among authors: holland e. Br J Dermatol. 2023 May 24;188(6):770-776. doi: 10.1093/bjd/ljad041. Br J Dermatol. 2023. PMID: 36879448 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: holland ea. 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.
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: holland ea. Nat Genet. 2011 Oct 9;43(11):1114-8. doi: 10.1038/ng.958. Nat Genet. 2011. PMID: 21983785 Free PMC article.
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: holland ea. Nature. 2011 Nov 13;480(7375):99-103. doi: 10.1038/nature10630. Nature. 2011. PMID: 22080950 Free PMC article.
Association of germline variants in telomere maintenance genes (POT1, TERF2IP, ACD, and TERT) with spitzoid morphology in familial melanoma: A multi-center case series.
Goldstein AM, Qin R, Chu EY, Elder DE, Massi D, Adams DJ, Harms PW, Robles-Espinoza CD, Newton-Bishop JA, Bishop DT, Harland M, Holland EA, Cust AE, Schmid H, Mann GJ, Puig S, Potrony M, Alos L, Nagore E, Millán-Esteban D, Hayward NK, Broit N, Palmer JM, Nathan V, Berry EG, Astiazaran-Symonds E, Yang XR, Tucker MA, Landi MT, Pfeiffer RM, Sargen MR. Goldstein AM, et al. Among authors: holland ea. JAAD Int. 2023 Jan 30;11:43-51. doi: 10.1016/j.jdin.2023.01.013. eCollection 2023 Jun. JAAD Int. 2023. PMID: 36876055 Free PMC article.
Most common 'sporadic' cancers have a significant germline genetic component.
Lu Y, Ek WE, Whiteman D, Vaughan TL, Spurdle AB, Easton DF, Pharoah PD, Thompson DJ, Dunning AM, Hayward NK, Chenevix-Trench G; Q-MEGA and AMFS Investigators; ANECS-SEARCH; UKOPS-SEARCH; BEACON Consortium; Macgregor S. Lu Y, et al. Hum Mol Genet. 2014 Nov 15;23(22):6112-8. doi: 10.1093/hmg/ddu312. Epub 2014 Jun 18. Hum Mol Genet. 2014. PMID: 24943595 Free PMC article.
Estimating CDKN2A mutation carrier probability among global familial melanoma cases using GenoMELPREDICT.
Taylor NJ, Mitra N, Qian L, Avril MF, Bishop DT, Bressac-de Paillerets B, Bruno W, Calista D, Cuellar F, Cust AE, Demenais F, Elder DE, Gerdes AM, Ghiorzo P, Goldstein AM, Grazziotin TC, Gruis NA, Hansson J, Harland M, Hayward NK, Hocevar M, Höiom V, Holland EA, Ingvar C, Landi MT, Landman G, Larre-Borges A, Mann GJ, Nagore E, Olsson H, Palmer JM, Perić B, Pjanova D, Pritchard AL, Puig S, Schmid H, van der Stoep N, Tucker MA, Wadt KAW, Yang XR, Newton-Bishop JA, Kanetsky PA; GenoMEL Study Group. Taylor NJ, et al. Among authors: holland ea. J Am Acad Dermatol. 2019 Aug;81(2):386-394. doi: 10.1016/j.jaad.2019.01.079. Epub 2019 Feb 5. J Am Acad Dermatol. 2019. PMID: 30731170 Free PMC article.
868 results