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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: johansson p. 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.
Microarray expression profiling in melanoma reveals a BRAF mutation signature.
Pavey S, Johansson P, Packer L, Taylor J, Stark M, Pollock PM, Walker GJ, Boyle GM, Harper U, Cozzi SJ, Hansen K, Yudt L, Schmidt C, Hersey P, Ellem KA, O'Rourke MG, Parsons PG, Meltzer P, Ringnér M, Hayward NK. Pavey S, et al. Among authors: johansson p. Oncogene. 2004 May 20;23(23):4060-7. doi: 10.1038/sj.onc.1207563. Oncogene. 2004. PMID: 15048078
Melanomas of unknown primary have a mutation profile consistent with cutaneous sun-exposed melanoma.
Dutton-Regester K, Kakavand H, Aoude LG, Stark MS, Gartside MG, Johansson P, O'Connor L, Lanagan C, Tembe V, Pupo GM, Haydu LE, Schmidt CW, Mann GJ, Thompson JF, Scolyer RA, Hayward NK. Dutton-Regester K, et al. Among authors: johansson p. Pigment Cell Melanoma Res. 2013 Nov;26(6):852-60. doi: 10.1111/pcmr.12153. Epub 2013 Aug 23. Pigment Cell Melanoma Res. 2013. PMID: 23890154
Assessment of PALB2 as a candidate melanoma susceptibility gene.
Aoude LG, Xu M, Zhao ZZ, Kovacs M, Palmer JM, Johansson P, Symmons J, Trent JM, Martin NG, Montgomery GW, Brown KM, Hayward NK. Aoude LG, et al. Among authors: johansson p. PLoS One. 2014 Jun 20;9(6):e100683. doi: 10.1371/journal.pone.0100683. eCollection 2014. PLoS One. 2014. PMID: 24949998 Free PMC article.
A recurrent germline BAP1 mutation and extension of the BAP1 tumor predisposition spectrum to include basal cell carcinoma.
Wadt KA, Aoude LG, Johansson P, Solinas A, Pritchard A, Crainic O, Andersen MT, Kiilgaard JF, Heegaard S, Sunde L, Federspiel B, Madore J, Thompson JF, McCarthy SW, Goodwin A, Tsao H, Jönsson G, Busam K, Gupta R, Trent JM, Gerdes AM, Brown KM, Scolyer RA, Hayward NK. Wadt KA, et al. Among authors: johansson p. Clin Genet. 2015 Sep;88(3):267-72. doi: 10.1111/cge.12501. Epub 2014 Nov 6. Clin Genet. 2015. PMID: 25225168
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: johansson p. 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.
1,610 results