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Page 1
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. Fam Cancer. 2015 Dec;14(4):621-8. doi: 10.1007/s10689-015-9826-8. Fam Cancer. 2015. PMID: 26251183
Germline TERT promoter mutations are rare in familial melanoma.
Harland M, Petljak M, Robles-Espinoza CD, Ding Z, Gruis NA, van Doorn R, Pooley KA, Dunning AM, Aoude LG, Wadt KA, Gerdes AM, Brown KM, Hayward NK, Newton-Bishop JA, Adams DJ, Bishop DT. Harland M, et al. Among authors: aoude lg. Fam Cancer. 2016 Jan;15(1):139-44. doi: 10.1007/s10689-015-9841-9. Fam Cancer. 2016. PMID: 26433962 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: aoude lg. Clin Genet. 2015 Sep;88(3):267-72. doi: 10.1111/cge.12501. Epub 2014 Nov 6. Clin Genet. 2015. PMID: 25225168
Genetics of familial melanoma: 20 years after CDKN2A.
Aoude LG, Wadt KA, Pritchard AL, Hayward NK. Aoude LG, et 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.
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. 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.
Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition.
Wadt KA, Aoude LG, Krogh L, Sunde L, Bojesen A, Grønskov K, Wartacz N, Ek J, Tolstrup-Andersen M, Klarskov-Andersen M, Borg Å, Heegaard S, Kiilgaard JF, Hansen TV, Klein K, Jönsson G, Drzewiecki KT, Dunø M, Hayward NK, Gerdes AM. Wadt KA, et al. Among authors: aoude lg. PLoS One. 2015 Mar 24;10(3):e0122662. doi: 10.1371/journal.pone.0122662. eCollection 2015. PLoS One. 2015. PMID: 25803691 Free PMC article.
Deep sequencing of uveal melanoma identifies a recurrent mutation in PLCB4.
Johansson P, Aoude LG, Wadt K, Glasson WJ, Warrier SK, Hewitt AW, Kiilgaard JF, Heegaard S, Isaacs T, Franchina M, Ingvar C, Vermeulen T, Whitehead KJ, Schmidt CW, Palmer JM, Symmons J, Gerdes AM, Jönsson G, Hayward NK. Johansson P, et al. Among authors: aoude lg. Oncotarget. 2016 Jan 26;7(4):4624-31. doi: 10.18632/oncotarget.6614. Oncotarget. 2016. PMID: 26683228 Free PMC article.
38 results