HuGE Literature Finder
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| Integrated genomic analyses of acral and mucosal melanomas nominate novel driver genes. Genome medicine 2022 06 14 (1): 65. Wang Meng, Banik Ishani, Shain A Hunter, Yeh Iwei, Bastian Boris |
| Intronic variants of MITF (rs7623610) and CREB1 (rs10932201) genes may enhance splicing efficiency in human melanoma cell line. Mutation research 2021 Oct 823 111763. Carron Juliana, Torricelli Caroline, Silva Janet Keller, Coser Lilian de Oliveira, Lima Carmen Silvia Passos, Lourenço Gustavo Jac |
| Genetic Variants and Somatic Alterations Associated with MITF-E318K Germline Mutation in Melanoma Patients. Genes 2021 Sep 12 (9): . Vergani Elisabetta, Frigerio Simona, Dugo Matteo, Devecchi Andrea, Feltrin Erika, De Cecco Loris, Vallacchi Viviana, Cossa Mara, Di Guardo Lorenza, Manoukian Siranoush, Peissel Bernard, Ferrari Andrea, Gallino Gianfrancesco, Maurichi Andrea, Rivoltini Licia, Sensi Marialuisa, Rodolfo Moni |
| Intragenic NF1 deletions in sinonasal mucosal malignant melanoma. Pigment cell & melanoma research 2021 Sep . Riobello Cristina, Casanueva Muruais Rodrigo, Suárez-Fernández Laura, García-Marín Rocío, Cabal Virginia N, Blanco-Lorenzo Verónica, Franchi Alessandro, Laco Jan, López Fernando, Llorente José Luis, Hermsen Mario |
| Expanding the phenotype of E318K (c.952G?>?A) MITF germline mutation carriers: case series and review of the literature. Hereditary cancer in clinical practice 2021 Jul 19 (1): 32. Oliveira Leandro Jonata Carvalho, Gongora Aline Bobato Lara, Lima Fabiola Ambrosio Silveira, Canedo Felipe Sales Nogueira Amorim, Quirino Carla Vanessa, Pisani Janina Pontes, Achatz Maria Isabel, Rossi Benedito Mau |
| A Single Center Retrospective Review of Patients from Central Italy Tested for Melanoma Predisposition Genes. International journal of molecular sciences 2020 Dec 21 (24): . De Simone Paola, Bottillo Irene, Valiante Michele, Iorio Alessandra, De Bernardo Carmelilia, Majore Silvia, D'Angelantonio Daniela, Valentini Tiziana, Sperduti Isabella, Piemonte Paolo, Eibenschutz Laura, Ferrari Angela, Carbone Anna, Buccini Pierluigi, Paiardini Alessandro, Silipo Vitaliano, Frascione Pasquale, Grammatico Pao |
| Insights into Genetic Susceptibility to Melanoma by Gene Panel Testing: Potential Pathogenic Variants in ACD, ATM, BAP1, and POT1. Cancers 2020 Apr 12 (4): . Pastorino Lorenza, Andreotti Virginia, Dalmasso Bruna, Vanni Irene, Ciccarese Giulia, Mandalà Mario, Spadola Giuseppe, Pizzichetta Maria Antonietta, Ponti Giovanni, Tibiletti Maria Grazia, Sala Elena, Genuardi Maurizio, Chiurazzi Pietro, Maccanti Gabriele, Manoukian Siranoush, Sestini Serena, Danesi Rita, Zampiga Valentina, Starza Roberta La, Stanganelli Ignazio, Ballestrero Alberto, Mastracci Luca, Grillo Federica, Sciallero Stefania, Cecchi Federica, Tanda Enrica Teresa, Spagnolo Francesco, Queirolo Paola, Imi Italian Melanoma Intergroup, Goldstein Alisa M, Bruno William, Ghiorzo Pao |
| Clinical histopathological features and CDKN2A/CDK4/MITF mutational status of patients with multiple primary melanomas from Bologna: Italy is a fascinating but complex mosaic. Giornale italiano di dermatologia e venereologia : organo ufficiale, Societa italiana di dermatologia e sifilografia 2020 Mar . Dika Emi, Patrizi Annalisa, Rossi Cesare, Turchetti Daniela, Miccoli Sara, Ferracin Manuela, Veronesi Giulia, Scarfì Federica, Lambertini Marti |
| The interplay of sun damage and genetic risk in Australian multiple and single primary melanoma cases and controls. The British journal of dermatology 2019 Dec . McMeniman E K, Duffy D L, Jagirdar K, Lee K J, Peach E, McInerney-Leo A M, De'Ambrosis B, Rayner J E, Smithers B M, Soyer H P, Sturm R |
| Phenotypic and genotypic analysis of amelanotic and hypomelanotic melanoma patients. Journal of the European Academy of Dermatology and Venereology : JEADV 2019 Jan . Rayner J E, McMeniman E K, Duffy D L, De'Ambrosis B, Smithers B M, Jagirdar K, Lee K J, Soyer H P, Sturm R |
| Integrated case-control and somatic-germline interaction analyses of melanoma susceptibility genes. Biochimica et biophysica acta. Molecular basis of disease 2018 Jun 1864 (6 Pt B): 2247-2254. Yu Yao, Hu Hao, Chen Jiun-Sheng, Hu Fulan, Fowler Jerry, Scheet Paul, Zhao Hua, Huff Chad |
| A common intronic variant of PARP1 confers melanoma risk and mediates melanocyte growth via regulation of MITF. Nature genetics 2017 Sep 49 (9): 1326-1335. Choi Jiyeon, Xu Mai, Makowski Matthew M, Zhang Tongwu, Law Matthew H, Kovacs Michael A, Granzhan Anton, Kim Wendy J, Parikh Hemang, Gartside Michael, Trent Jeffrey M, Teulade-Fichou Marie-Paule, Iles Mark M, Newton-Bishop Julia A, Bishop D Timothy, MacGregor Stuart, Hayward Nicholas K, Vermeulen Michiel, Brown Kevin |
| Improvement of Genetic Testing for Cutaneous Melanoma in Countries With Low to Moderate Incidence: The Rule of 2 vs the Rule of 3. JAMA dermatology 2017 11 153 (11): 1122-1129. Delaunay Juliette, Martin Ludovic, Bressac-de Paillerets Brigitte, Duru Gerard, Ingster Olivier, Thomas L |
| The MITF, p.E318K Variant, as a Risk Factor for Pheochromocytoma and Paraganglioma. The Journal of clinical endocrinology and metabolism 2016 Sep jc20162103. Castro-Vega Luis Jaime, Kiando Soto Romuald, Burnichon Nelly, Buffet Alexandre, Amar Laurence, Simian Christophe, Berdelou Amandine, Galan Pilar, Schlumberger Martin, Bouatia-Naji Nabila, Favier Judith, Bressac-de Paillerets Brigitte, Gimenez-Roqueplo Anne-Pau |
| Genetic susceptibility to cutaneous melanoma in southern Switzerland: role of CDKN2A, MC1R and MITF. The British journal of dermatology 2016 Jul . Mangas C, Potrony M, Mainetti C, Bianchi E, Carrozza Merlani P, Mancarella Eberhardt A, Maspoli-Postizzi E, Marazza G, Marcollo-Pini A, Pelloni F, Sessa C, Simona B, Puig-Butillé J A, Badenas C, Puig |
| Rare variants analysis of cutaneous malignant melanoma genes in Parkinson's disease. Neurobiology of aging 2016 Jul . Lubbe S J, Escott-Price V, Brice A, Gasser T, Pittman A M, Bras J, Hardy J, Heutink P, Wood N M, Singleton A B, Grosset D G, Carroll C B, Law M H, Demenais F, Iles M M, , Bishop D T, Newton-Bishop J, Williams N M, Morris H R, |
| CDKN2A and BAP1 germline mutations predispose to melanoma and mesothelioma. Cancer letters 2016 May . Betti M, Aspesi A, Biasi A, Casalone E, Ferrante D, Ogliara P, Gironi L C, Giorgione R, Farinelli P, Grosso F, Libener R, Rosato S, Turchetti D, Maffè A, Casadio C, Ascoli V, Dianzani C, Colombo E, Piccolini E, Pavesi M, Miccoli S, Mirabelli D, Bracco C, Righi L, Boldorini R, Papotti M, Matullo G, Magnani C, Pasini B, Dianzani |
| The Microphthalmia-Associated Transcription Factor p.E318K Mutation Does Not Play a Major Role in Sporadic Renal Cell Tumors from Caucasian Patients. Pathobiology : journal of immunopathology, molecular and cellular biology 2016 Mar 83 (4): 113-117. Stoehr Christine G, Walter Bernhard, Denzinger Stefan, Ghiorzo Paola, Sturm Richard A, Hinze Raoul, Moch Holger, Junker Kerstin, Hartmann Arndt, Stoehr Robe |
| Characterization of patients at high risk of melanoma in Austria. The British journal of dermatology 2016 Jan . Müller C, Wendt J, Rauscher S, Burgstaller-Muehlbacher S, Sunder-Plassmann R, Scheurecker C, Richtig E, Fae I, Fischer G, Pehamberger H, Okamoto |
| Prevalence of MITF p.E318K in Patients With Melanoma Independent of the Presence of CDKN2A Causative Mutations. JAMA dermatology 2015 Dec 1-8. Potrony Miriam, Puig-Butille Joan Anton, Aguilera Paula, Badenas Celia, Tell-Marti Gemma, Carrera Cristina, Javier Del Pozo Luis, Conejo-Mir Julian, Malvehy Josep, Puig Susa |
| Updated field synopsis and systematic meta-analyses of genetic association studies in cutaneous melanoma: the MelGene database. The Journal of investigative dermatology 2015 Apr 135 (4): 1074-9. Antonopoulou Kyriaki, Stefanaki Irene, Lill Christina M, Chatzinasiou Foteini, Kypreou Katerina P, Karagianni Fani, Athanasiadis Emmanouil, Spyrou George M, Ioannidis John P A, Bertram Lars, Evangelou Evangelos, Stratigos Alexander |
| Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition. PloS one 2015 10 (3): e0122662. Wadt Karin A W, Aoude Lauren G, Krogh Lotte, Sunde Lone, Bojesen Anders, Grønskov Karen, Wartacz Nine, Ek Jakob, Tolstrup-Andersen Morten, Klarskov-Andersen Mette, Borg Åke, Heegaard Steffen, Kiilgaard Jens F, Hansen Thomas V O, Klein Kerenaftali, Jönsson Göran, Drzewiecki Krzysztof T, Dunø Morten, Hayward Nicholas K, Gerdes Anne-Mar |
| Genotype analysis in Hungarian patients with multiple primary melanoma. Experimental dermatology 2014 May 23 (5): 361-4. Hatvani Zsófia, Brodszky Valentin, Mazán Mercédesz, Pintér Dóra, Hársing Judit, Tóth Veronika, Somlai Beáta, Kárpáti Sarol |
| MITF E318K's effect on melanoma risk independent of, but modified by, other risk factors. Pigment cell & melanoma research 2014 May 27 (3): 485-8. Berwick Marianne, MacArthur Jamie, Orlow Irene, Kanetsky Peter, Begg Colin B, Luo Li, Reiner Anne, Sharma Ajay, Armstrong Bruce K, Kricker Anne, Cust Anne E, Marrett Loraine D, Gruber Stephen B, Anton-Culver Hoda, Zanetti Roberto, Rosso Stefano, Gallagher Richard P, Dwyer Terence, Venn Alison, Busam Klaus, From Lynn, White Kirsten, Thomas Nancy E, |
| Prevalence of the E318K and V320I MITF germline mutations in Polish cancer patients and multiorgan cancer risk-a population-based study. Cancer genetics 2014 Apr 207 (4): 128-32. Gromowski Tomasz, Masoj? Bart?omiej, Scott Rodney J, Cybulski Cezary, Górski Bohdan, Klu?niak Wojciech, Paszkowska-Szczur Katarzyna, Rozmiarek Andrzej, D?bniak Bogus?aw, Maleszka Romuald, K?adny Józef, Lubi?ski Jan, D?bniak Tadeu |
| The genetic landscape of clinical resistance to RAF inhibition in metastatic melanoma. Cancer discovery 2013 Nov . Van Allen EM, Wagle N, Sucker A, Treacy DJ, Johannessen CM, Goetz EM, Place CS, Taylor-Weiner A, Whittaker S, Kryukov GV, Hodis E, Rosenberg M, McKenna A, Cibulskis K, Farlow D, Zimmer L, Hillen U, Gutzmer R, Goldinger SM, Ugurel S, Gogas HJ, Egberts F, Berking C, Trefzer U, Loquai C, Weide B, Hassel JC, Gabriel SB, Carter SL, Getz G, Garraway LA, Schadendorf D |
| Prevalence of the E318K MITF germline mutation in Italian melanoma patients: associations with histological subtypes and family cancer history. Pigment cell & melanoma research 2012 Nov . Ghiorzo P, Pastorino L, Queirolo P, Bruno W, Tibiletti MG, Nasti S, Andreotti V, de Paillerets BB, Bianchi Scarrà G |
| Inherited variants in the MC1R gene and survival from cutaneous melanoma: a BioGenoMEL study. Pigment cell & melanoma research 2012 Feb . Davies JR, Randerson-Moor J, Kukalizch K, Harland M, Kumar R, Madhusudan S, Nagore E, Hansson J, Höiom V, Ghiorzo P, Gruis NA, Kanetsky PA, Wendt J, Pjanova D, Puig S, Saiag P, Schadendorf D, Soufir N, Okamoto I, Affleck P, García-Casado Z, Ogbah Z, Ozola A, Queirolo P, Sucker A, Barrett JH, van Doorn R, Bishop DT, Newton-Bishop J |
| A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma. Nature 2011 Dec 480 (7375): 94-8. Bertolotto Corine, Lesueur Fabienne, Giuliano Sandy, Strub Thomas, de Lichy Mahaut, Bille Karine, Dessen Philippe, d'Hayer Benoit, Mohamdi Hamida, Remenieras Audrey, Maubec Eve, de la Fouchardière Arnaud, Molinié Vincent, Vabres Pierre, Dalle Stéphane, Poulalhon Nicolas, Martin-Denavit Tanguy, Thomas Luc, Andry-Benzaquen Pascale, Dupin Nicolas, Boitier Françoise, Rossi Annick, Perrot Jean-Luc, Labeille Bruno, Robert Caroline, Escudier Bernard, Caron Olivier, Brugières Laurence, Saule Simon, Gardie Betty, Gad Sophie, Richard Stéphane, Couturier Jérôme, Teh Bin Tean, Ghiorzo Paola, Pastorino Lorenza, Puig Susana, Badenas Celia, Olsson Hakan, Ingvar Christian, Rouleau Etienne, Lidereau Rosette, Bahadoran Philippe, Vielh Philippe, Corda Eve, Blanché Hélène, Zelenika Diana, Galan Pilar, , Aubin François, Bachollet Bertrand, Becuwe Céline, Berthet Pascaline, Bignon Yves Jean, Bonadona Valérie, Bonafe Jean-Louis, Bonnet-Dupeyron Marie-Noëlle, Cambazard Fréderic, Chevrant-Breton Jacqueline, Coupier Isabelle, Dalac Sophie, Demange Liliane, d'Incan Michel, Dugast Catherine, Faivre Laurence, Vincent-Fétita Lynda, Gauthier-Villars Marion, Gilbert Brigitte, Grange Florent, Grob Jean-Jacques, Humbert Philippe, Janin Nicolas, Joly Pascal, Kerob Delphine, Lasset Christine, Leroux Dominique, Levang Julien, Limacher Jean-Marc, Livideanu Cristina, Longy Michel, Lortholary Alain, Stoppa-Lyonnet Dominique, Mansard Sandrine, Mansuy Ludovic, Marrou Karine, Matéus Christine, Maugard Christine, Meyer Nicolas, Nogues Catherine, Souteyrand Pierre, Venat-Bouvet Laurence, Zattara Hélène, Chaudru Valérie, Lenoir Gilbert M, Lathrop Mark, Davidson Irwin, Avril Marie-Françoise, Demenais Florence, Ballotti Robert, Bressac-de Paillerets Brigit |
| Frequent mutations in the MITF pathway in melanoma. Pigment cell & melanoma research 2009 Aug 22 (4): 435-44. Cronin Julia C, Wunderlich John, Loftus Stacie K, Prickett Todd D, Wei Xiaomu, Ridd Katie, Vemula Swapna, Burrell Allison S, Agrawal Neena S, Lin Jimmy C, Banister Carolyn E, Buckhaults Phillip, Rosenberg Steven A, Bastian Boris C, Pavan William J, Samuels Yarde |
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- Page last updated:Aug 16, 2022
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