Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 46 Records) |
| Query Trace: Melanoma and MITF[original query] |
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| 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 |
| 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, |
| 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 |
| 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 |
| Divergence of cAMP signalling pathways mediating augmented nucleotide excision repair and pigment induction in melanocytes. Experimental dermatology 2017 1 26 (7): 577-584. Wolf Horrell Erin M, Jarrett Stuart G, Carter Katharine M, D'Orazio John |
| Genetic alterations in main candidate genes during melanoma progression. Oncotarget 2018 3 9 (9): 8531-8541. Sini Maria Cristina, Doneddu Valentina, Paliogiannis Panagiotis, Casula Milena, Colombino Maria, Manca Antonella, Botti Gerardo, Ascierto Paolo A, Lissia Amelia, Cossu Antonio, Palmieri Giusep |
| Rare Variant, Gene-Based Association Study of Hereditary Melanoma Using Whole-Exome Sequencing. Journal of the National Cancer Institute 2018 3 109 (12): . Artomov Mykyta, Stratigos Alexander J, Kim Ivana, Kumar Raj, Lauss Martin, Reddy Bobby Y, Miao Benchun, Daniela Robles-Espinoza Carla, Sankar Aravind, Njauw Ching-Ni, Shannon Kristen, Gragoudas Evangelos S, Marie Lane Anne, Iyer Vivek, Newton-Bishop Julia A, Timothy Bishop D, Holland Elizabeth A, Mann Graham J, Singh Tarjinder, Daly Mark J, Tsao Hens |
| Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families. International journal of cancer 2018 11 144 (10): 2453-2464. Potjer Thomas P, Bollen Sander, Grimbergen Anneliese J E M, van Doorn Remco, Gruis Nelleke A, van Asperen Christi J, Hes Frederik J, van der Stoep Nienke, |
| 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 |
| Genomic Features of Exceptional Response in Vemurafenib ± Cobimetinib-treated Patients with BRAF -mutated Metastatic Melanoma. Clinical cancer research : an official journal of the American Association for Cancer Research 2019 3 25 (11): 3239-3246. Yan Yibing, Wongchenko Matthew J, Robert Caroline, Larkin James, Ascierto Paolo A, Dréno Brigitte, Maio Michele, Garbe Claus, Chapman Paul B, Sosman Jeffrey A, Shi Zhen, Koeppen Hartmut, Hsu Jessie J, Chang Ilsung, Caro Ivor, Rooney Isabelle, McArthur Grant A, Ribas Anto |
| 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 |
| Inherited variations in human pigmentation-related genes modulate cutaneous melanoma risk and clinicopathological features in Brazilian population. Scientific reports 2020 7 10 (1): 12129. Lourenço Gustavo Jacob, Oliveira Cristiane, Carvalho Benilton Sá, Torricelli Caroline, Silva Janet Keller, Gomez Gabriela Vilas Bôas, Rinck-Junior José Augusto, Oliveira Wesley Lima, Vazquez Vinicius Lima, Serrano Sergio Vicente, Moraes Aparecida Machado, Lima Carmen Silvia Pass |
| 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. Italian journal of dermatology and venereology 2020 Mar . Dika Emi, Patrizi Annalisa, Rossi Cesare, Turchetti Daniela, Miccoli Sara, Ferracin Manuela, Veronesi Giulia, Scarfì Federica, Lambertini Marti |
| 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 |
| Genetic Profiling of Advanced Melanoma: Candidate Mutations for Predicting Sensitivity and Resistance to Targeted Therapy. Targeted oncology 2020 1 15 (1): 101-113. Olbryt Magdalena, Pig?owski Wojciech, Rajczykowski Marcin, Pfeifer Aleksandra, Student Sebastian, Fiszer-Kierzkowska An |
| 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 |
| Inherited duplications of PPP2R3B predispose to nevi and melanoma via a C21orf91-driven proliferative phenotype. Genetics in medicine : official journal of the American College of Medical Genetics 2021 6 23 (9): 1636-1647. Polubothu Satyamaanasa, Zecchin Davide, Al-Olabi Lara, Lionarons Daniël A, Harland Mark, Horswell Stuart, Thomas Anna C, Hunt Lilian, Wlodarchak Nathan, Aguilera Paula, Brand Sarah, Bryant Dale, Carrera Cristina, Chen Hui, Elgar Greg, Harwood Catherine A, Howell Michael, Larue Lionel, Loughlin Sam, MacDonald Jeff, Malvehy Josep, Barberan Sara Martin, da Silva Vanessa Martins, Molina Miriam, Morrogh Deborah, Moulding Dale, Nsengimana Jérémie, Pittman Alan, Puig-Butillé Joan-Anton, Parmar Kiran, Sebire Neil J, Scherer Stephen, Stadnik Paulina, Stanier Philip, Tell Gemma, Waelchli Regula, Zarrei Mehdi, Puig Susana, Bataille Véronique, Xing Yongna, Healy Eugene, Moore Gudrun E, Di Wei-Li, Newton-Bishop Julia, Downward Julian, Kinsler Veronica |
| Meta-Analysis and Systematic Review of the Genomics of Mucosal Melanoma. Molecular cancer research : MCR 2021 3 19 (6): 991-1004. Broit Natasa, Johansson Peter A, Rodgers Chloe B, Walpole Sebastian T, Newell Felicity, Hayward Nicholas K, Pritchard Antonia |
| PD-L1 expression is regulated by microphthalmia-associated transcription factor (MITF) in nodular melanoma. Pathology, research and practice 2021 12 229 153725. Vu?ini? Damir, Grahovac Maja, Grahovac Blaženka, Vitezi? Bojana Mohar, Kova? Leo, Beluši?-Gobi? Margita, Zamolo Gorda |
| Assessment of Risk of Hereditary Predisposition in Patients With Melanoma and/or Mesothelioma and Renal Neoplasia. JAMA network open 2021 11 4 (11): e2132615. Gupta Sounak, Erickson Lori A, Lohse Christine M, Shen Wei, Pitel Beth A, Knight Shannon M, Halling Kevin C, Herrera-Hernandez Loren, Boorjian Stephen A, Thompson R Houston, Leibovich Bradley C, Jimenez Rafael E, Cheville John |
| 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 |
| Melanoma in children and adolescents: analysis of susceptibility genes in 123 Italian patients. Journal of the European Academy of Dermatology and Venereology : JEADV 2021 10 36 (2): 213-221. Pellegrini C, Raimondi S, Di Nardo L, Ghiorzo P, Menin C, Manganoni M A, Palmieri G, Guida G, Quaglino P, Stanganelli I, Massi D, Pastorino L, Elefanti L, Tosti G, Queirolo P, Leva A, Maurichi A, Rodolfo M, Fargnoli M C, |
| Predictors of germline status for hereditary melanoma: 5 years of multi-gene panel testing within the Italian Melanoma Intergroup. ESMO open 2022 7 7 (4): 100525. Bruno W, Dalmasso B, Barile M, Andreotti V, Elefanti L, Colombino M, Vanni I, Allavena E, Barbero F, Passoni E, Merelli B, Pellegrini S, Morgese F, Danesi R, Calò V, Bazan V, D'Elia A V, Molica C, Gensini F, Sala E, Uliana V, Soma P F, Genuardi M, Ballestrero A, Spagnolo F, Tanda E, Queirolo P, Mandalà M, Stanganelli I, Palmieri G, Menin C, , Pastorino L, Ghiorzo |
| 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 |
| MC1R 'r' allele does not increase melanoma risk in MITF E318K carriers. The British journal of dermatology 2023 3 . Wallingford Courtney K, Demeshko Anastassia, Krishnankutty Krishnakripa Asha, Smit Darren J, Duffy David L, Betz-Stablein Brigid, Pflugfelder Annette, Jagirdar Kasturee, Holland Elizabeth, Mann Graham J, Primiero Clare A, Yanes Tatiane, Malvehy Josep, Badenas Cèlia, Carrera Cristina, Aguilera Paula, Olsen Catherine M, Ward Sarah V, Haass Nikolas K, Sturm Richard A, Puig Susanna, Whiteman David C, Law Matthew H, Cust Anne E, Potrony Miriam, Soyer H Peter, McInerney-Leo Aideen |
| Characterization of Potential Melanoma Predisposition Genes in High-Risk Brazilian Patients. International journal of molecular sciences 2023 11 24 (21): . Bianca Costa Soares de Sá, Luciana Facure Moredo, Giovana Tardin Torrezan, Felipe Fidalgo, Érica Sara Souza de Araújo, Maria Nirvana Formiga, João Pereira Duprat, Dirce Maria Carra |
- Page last reviewed:Oct 1, 2023
- Page last updated:Dec 04, 2023
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