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Page 1
Unusual suspects in hereditary melanoma: POT1, POLE, BAP1.
Maas EJ, Betz-Stablein B, Aoude LG, Soyer HP, McInerney-Leo AM. Maas EJ, et al. Among authors: aoude lg. Trends Genet. 2022 Dec;38(12):1204-1207. doi: 10.1016/j.tig.2022.06.007. Epub 2022 Jul 7. Trends Genet. 2022. PMID: 35811174
GOLM1: expanding our understanding of melanoma susceptibility.
Maas EJ, Wallingford CK, DeBortoli E, Smit DJ, Betz-Stablein B, Aoude LG, Stark MS, Sturm RA, Soyer HP, McInerney-Leo AM. Maas EJ, et al. Among authors: aoude lg. J Med Genet. 2023 Sep;60(9):835-837. doi: 10.1136/jmg-2023-109348. Epub 2023 Jul 24. J Med Genet. 2023. PMID: 37487699 No abstract available.
Frequent somatic mutations in MAP3K5 and MAP3K9 in metastatic melanoma identified by exome sequencing.
Stark MS, Woods SL, Gartside MG, Bonazzi VF, Dutton-Regester K, Aoude LG, Chow D, Sereduk C, Niemi NM, Tang N, Ellis JJ, Reid J, Zismann V, Tyagi S, Muzny D, Newsham I, Wu Y, Palmer JM, Pollak T, Youngkin D, Brooks BR, Lanagan C, Schmidt CW, Kobe B, MacKeigan JP, Yin H, Brown KM, Gibbs R, Trent J, Hayward NK. Stark MS, et al. Among authors: aoude lg. Nat Genet. 2011 Dec 25;44(2):165-9. doi: 10.1038/ng.1041. Nat Genet. 2011. PMID: 22197930 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: aoude lg. 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. 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
Multiplex melanoma families are enriched for polygenic risk.
Law MH, Aoude LG, Duffy DL, Long GV, Johansson PA, Pritchard AL, Khosrotehrani K, Mann GJ, Montgomery GW, Iles MM, Cust AE, Palmer JM; Melanoma GWAS Consortium; Shannon KF, Spillane AJ, Stretch JR, Thompson JF, Saw RPM, Scolyer RA, Martin NG, Hayward NK, MacGregor S. Law MH, et al. Among authors: aoude lg. Hum Mol Genet. 2020 Oct 10;29(17):2976-2985. doi: 10.1093/hmg/ddaa156. Hum Mol Genet. 2020. PMID: 32716505 Free PMC article.
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
38 results