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Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide.
Walpole S, Pritchard AL, Cebulla CM, Pilarski R, Stautberg M, Davidorf FH, de la Fouchardière A, Cabaret O, Golmard L, Stoppa-Lyonnet D, Garfield E, Njauw CN, Cheung M, Turunen JA, Repo P, Järvinen RS, van Doorn R, Jager MJ, Luyten GPM, Marinkovic M, Chau C, Potrony M, Höiom V, Helgadottir H, Pastorino L, Bruno W, Andreotti V, Dalmasso B, Ciccarese G, Queirolo P, Mastracci L, Wadt K, Kiilgaard JF, Speicher MR, van Poppelen N, Kilic E, Al-Jamal RT, Dianzani I, Betti M, Bergmann C, Santagata S, Dahiya S, Taibjee S, Burke J, Poplawski N, O'Shea SJ, Newton-Bishop J, Adlard J, Adams DJ, Lane AM, Kim I, Klebe S, Racher H, Harbour JW, Nickerson ML, Murali R, Palmer JM, Howlie M, Symmons J, Hamilton H, Warrier S, Glasson W, Johansson P, Robles-Espinoza CD, Ossio R, de Klein A, Puig S, Ghiorzo P, Nielsen M, Kivelä TT, Tsao H, Testa JR, Gerami P, Stern MH, Paillerets BB, Abdel-Rahman MH, Hayward NK. Walpole S, et al. Among authors: murali r. J Natl Cancer Inst. 2018 Dec 1;110(12):1328-1341. doi: 10.1093/jnci/djy171. J Natl Cancer Inst. 2018. PMID: 30517737 Free PMC article. Review.
Germline mutations in BAP1 predispose to melanocytic tumors.
Wiesner T, Obenauf AC, Murali R, Fried I, Griewank KG, Ulz P, Windpassinger C, Wackernagel W, Loy S, Wolf I, Viale A, Lash AE, Pirun M, Socci ND, Rütten A, Palmedo G, Abramson D, Offit K, Ott A, Becker JC, Cerroni L, Kutzner H, Bastian BC, Speicher MR. Wiesner T, et al. Among authors: murali r. Nat Genet. 2011 Aug 28;43(10):1018-21. doi: 10.1038/ng.910. Nat Genet. 2011. PMID: 21874003 Free PMC article.
Tumours associated with BAP1 mutations.
Murali R, Wiesner T, Scolyer RA. Murali R, et al. Pathology. 2013 Feb;45(2):116-26. doi: 10.1097/PAT.0b013e32835d0efb. Pathology. 2013. PMID: 23277170 Review.
Conjunctival melanomas harbor BRAF and NRAS mutations and copy number changes similar to cutaneous and mucosal melanomas.
Griewank KG, Westekemper H, Murali R, Mach M, Schilling B, Wiesner T, Schimming T, Livingstone E, Sucker A, Grabellus F, Metz C, Süsskind D, Hillen U, Speicher MR, Woodman SE, Steuhl KP, Schadendorf D. Griewank KG, et al. Among authors: murali r. Clin Cancer Res. 2013 Jun 15;19(12):3143-52. doi: 10.1158/1078-0432.CCR-13-0163. Epub 2013 Apr 30. Clin Cancer Res. 2013. PMID: 23633454
TERT promoter mutation status as an independent prognostic factor in cutaneous melanoma.
Griewank KG, Murali R, Puig-Butille JA, Schilling B, Livingstone E, Potrony M, Carrera C, Schimming T, Möller I, Schwamborn M, Sucker A, Hillen U, Badenas C, Malvehy J, Zimmer L, Scherag A, Puig S, Schadendorf D. Griewank KG, et al. Among authors: murali r. J Natl Cancer Inst. 2014 Sep 13;106(9):dju246. doi: 10.1093/jnci/dju246. Print 2014 Sep. J Natl Cancer Inst. 2014. PMID: 25217772 Free PMC article.
SF3B1 and BAP1 mutations in blue nevus-like melanoma.
Griewank KG, Müller H, Jackett LA, Emberger M, Möller I, van de Nes JA, Zimmer L, Livingstone E, Wiesner T, Scholz SL, Cosgarea I, Sucker A, Schimming T, Hillen U, Schilling B, Paschen A, Reis H, Mentzel T, Kutzner H, Rütten A, Murali R, Scolyer RA, Schadendorf D. Griewank KG, et al. Among authors: murali r. Mod Pathol. 2017 Jul;30(7):928-939. doi: 10.1038/modpathol.2017.23. Epub 2017 Apr 14. Mod Pathol. 2017. PMID: 28409567 Free PMC article.
526 results