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POT1 loss-of-function variants predispose to familial melanoma.
Robles-Espinoza CD, Harland M, Ramsay AJ, Aoude LG, Quesada V, Ding Z, Pooley KA, Pritchard AL, Tiffen JC, Petljak M, Palmer JM, Symmons J, Johansson P, Stark MS, Gartside MG, Snowden H, Montgomery GW, Martin NG, Liu JZ, Choi J, Makowski M, Brown KM, Dunning AM, Keane TM, López-Otín C, Gruis NA, Hayward NK, Bishop DT, Newton-Bishop JA, Adams DJ. Robles-Espinoza CD, et al. Among authors: gruis na. Nat Genet. 2014 May;46(5):478-481. doi: 10.1038/ng.2947. Epub 2014 Mar 30. Nat Genet. 2014. PMID: 24686849 Free PMC article.
Germline mutations of the CDKN2 gene in UK melanoma families.
Harland M, Meloni R, Gruis N, Pinney E, Brookes S, Spurr NK, Frischauf AM, Bataille V, Peters G, Cuzick J, Selby P, Bishop DT, Bishop JN. Harland M, et al. Hum Mol Genet. 1997 Nov;6(12):2061-7. doi: 10.1093/hmg/6.12.2061. Hum Mol Genet. 1997. PMID: 9328469
Geographical variation in the penetrance of CDKN2A mutations for melanoma.
Bishop DT, Demenais F, Goldstein AM, Bergman W, Bishop JN, Bressac-de Paillerets B, Chompret A, Ghiorzo P, Gruis N, Hansson J, Harland M, Hayward N, Holland EA, Mann GJ, Mantelli M, Nancarrow D, Platz A, Tucker MA; Melanoma Genetics Consortium. Bishop DT, et al. J Natl Cancer Inst. 2002 Jun 19;94(12):894-903. doi: 10.1093/jnci/94.12.894. J Natl Cancer Inst. 2002. PMID: 12072543
Localization of a novel melanoma susceptibility locus to 1p22.
Gillanders E, Juo SH, Holland EA, Jones M, Nancarrow D, Freas-Lutz D, Sood R, Park N, Faruque M, Markey C, Kefford RF, Palmer J, Bergman W, Bishop DT, Tucker MA, Bressac-de Paillerets B, Hansson J, Stark M, Gruis N, Bishop JN, Goldstein AM, Bailey-Wilson JE, Mann GJ, Hayward N, Trent J; Lund Melanoma Study Group; Melanoma Genetics Consortium. Gillanders E, et al. Am J Hum Genet. 2003 Aug;73(2):301-13. doi: 10.1086/377140. Epub 2003 Jul 3. Am J Hum Genet. 2003. PMID: 12844286 Free PMC article.
A mutation hotspot at the p14ARF splice site.
Harland M, Taylor CF, Chambers PA, Kukalizch K, Randerson-Moor JA, Gruis NA, de Snoo FA, ter Huurne JA, Goldstein AM, Tucker MA, Bishop DT, Bishop JA. Harland M, et al. Among authors: gruis na. Oncogene. 2005 Jun 30;24(28):4604-8. doi: 10.1038/sj.onc.1208678. Oncogene. 2005. PMID: 15856016
A road map for efficient and reliable human genome epidemiology.
Ioannidis JP, Gwinn M, Little J, Higgins JP, Bernstein JL, Boffetta P, Bondy M, Bray MS, Brenchley PE, Buffler PA, Casas JP, Chokkalingam A, Danesh J, Smith GD, Dolan S, Duncan R, Gruis NA, Hartge P, Hashibe M, Hunter DJ, Jarvelin MR, Malmer B, Maraganore DM, Newton-Bishop JA, O'Brien TR, Petersen G, Riboli E, Salanti G, Seminara D, Smeeth L, Taioli E, Timpson N, Uitterlinden AG, Vineis P, Wareham N, Winn DM, Zimmern R, Khoury MJ; Human Genome Epidemiology Network and the Network of Investigator Networks. Ioannidis JP, et al. Among authors: gruis na. Nat Genet. 2006 Jan;38(1):3-5. doi: 10.1038/ng0106-3. Nat Genet. 2006. PMID: 16468121
159 results