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128 results

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Page 1
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: pritchard al. 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.
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: pritchard al. 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.
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. Clin Genet. 2015 Sep;88(3):267-72. doi: 10.1111/cge.12501. Epub 2014 Nov 6. Clin Genet. 2015. PMID: 25225168
BRAF/NRAS wild-type melanoma, NF1 status and sensitivity to trametinib.
Ranzani M, Alifrangis C, Perna D, Dutton-Regester K, Pritchard A, Wong K, Rashid M, Robles-Espinoza CD, Hayward NK, McDermott U, Garnett M, Adams DJ. Ranzani M, et al. Pigment Cell Melanoma Res. 2015 Jan;28(1):117-9. doi: 10.1111/pcmr.12316. Epub 2014 Oct 13. Pigment Cell Melanoma Res. 2015. PMID: 25243813 Free PMC article. No abstract available.
Genetics of familial melanoma: 20 years after CDKN2A.
Aoude LG, Wadt KA, Pritchard AL, Hayward NK. Aoude LG, et al. Among authors: pritchard al. Pigment Cell Melanoma Res. 2015 Mar;28(2):148-60. doi: 10.1111/pcmr.12333. Epub 2015 Jan 5. Pigment Cell Melanoma Res. 2015. PMID: 25431349 Review.
Exome Sequencing to Predict Neoantigens in Melanoma.
Pritchard AL, Burel JG, Neller MA, Hayward NK, Lopez JA, Fatho M, Lennerz V, Wölfel T, Schmidt CW. Pritchard AL, et al. Cancer Immunol Res. 2015 Sep;3(9):992-8. doi: 10.1158/2326-6066.CIR-15-0088. Epub 2015 Jun 5. Cancer Immunol Res. 2015. PMID: 26048577
POLE mutations in families predisposed to cutaneous melanoma.
Aoude LG, Heitzer E, Johansson P, Gartside M, Wadt K, Pritchard AL, Palmer JM, Symmons J, Gerdes AM, Montgomery GW, Martin NG, Tomlinson I, Kearsey S, Hayward NK. Aoude LG, et al. Among authors: pritchard al. Fam Cancer. 2015 Dec;14(4):621-8. doi: 10.1007/s10689-015-9826-8. Fam Cancer. 2015. PMID: 26251183
Recurrent inactivating RASA2 mutations in melanoma.
Arafeh R, Qutob N, Emmanuel R, Keren-Paz A, Madore J, Elkahloun A, Wilmott JS, Gartner JJ, Di Pizio A, Winograd-Katz S, Sindiri S, Rotkopf R, Dutton-Regester K, Johansson P, Pritchard AL, Waddell N, Hill VK, Lin JC, Hevroni Y, Rosenberg SA, Khan J, Ben-Dor S, Niv MY, Ulitsky I, Mann GJ, Scolyer RA, Hayward NK, Samuels Y. Arafeh R, et al. Among authors: pritchard al. Nat Genet. 2015 Dec;47(12):1408-10. doi: 10.1038/ng.3427. Epub 2015 Oct 26. Nat Genet. 2015. PMID: 26502337 Free PMC article.
128 results