Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 30 Records) |
Query Trace: Neoplasms and MITF[original query] |
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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 |
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 |
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 |
Spectrum of diverse genomic alterations define non-clear cell renal carcinoma subtypes. Nature genetics 2015 Jan 47 (1): 13-21. Durinck Steffen, Stawiski Eric W, Pavía-Jiménez Andrea, Modrusan Zora, Kapur Payal, Jaiswal Bijay S, Zhang Na, Toffessi-Tcheuyap Vanina, Nguyen Thong T, Pahuja Kanika Bajaj, Chen Ying-Jiun, Saleem Sadia, Chaudhuri Subhra, Heldens Sherry, Jackson Marlena, Peña-Llopis Samuel, Guillory Joseph, Toy Karen, Ha Connie, Harris Corissa J, Holloman Eboni, Hill Haley M, Stinson Jeremy, Rivers Celina Sanchez, Janakiraman Vasantharajan, Wang Weiru, Kinch Lisa N, Grishin Nick V, Haverty Peter M, Chow Bernard, Gehring Julian S, Reeder Jens, Pau Gregoire, Wu Thomas D, Margulis Vitaly, Lotan Yair, Sagalowsky Arthur, Pedrosa Ivan, de Sauvage Frederic J, Brugarolas James, Seshagiri Somasek |
Whole-exome sequencing defines the mutational landscape of pheochromocytoma and identifies KMT2D as a recurrently mutated gene. Genes, chromosomes & cancer 2015 Sep 54 (9): 542-54. Juhlin C Christofer, Stenman Adam, Haglund Felix, Clark Victoria E, Brown Taylor C, Baranoski Jacob, Bilguvar Kaya, Goh Gerald, Welander Jenny, Svahn Fredrika, Rubinstein Jill C, Caramuta Stefano, Yasuno Katsuhito, Günel Murat, Bäckdahl Martin, Gimm Oliver, Söderkvist Peter, Prasad Manju L, Korah Reju, Lifton Richard P, Carling Tobi |
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 |
Somatic mutation profiling of follicular thyroid cancer by next generation sequencing. Molecular and cellular endocrinology 2016 Sep 433 130-7. Swierniak Michal, Pfeifer Aleksandra, Stokowy Tomasz, Rusinek Dagmara, Chekan Mykola, Lange Dariusz, Krajewska Jolanta, Oczko-Wojciechowska Ma?gorzata, Czarniecka Agnieszka, Jarzab Michal, Jarzab Barbara, Wojtas Barto |
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 |
Comprehensive Genomic Profiling of Central Giant Cell Lesions Identifies Clinically Relevant Genomic Alterations. Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial Surgeons 2016 Nov . Bezak Brett, Lehrke Heidi, Elvin Julia, Gay Laurie, Schembri-Wismayer David, Viozzi Christoph |
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 |
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 |
Advances in the diagnosis of hereditary kidney cancer: Initial results of a multigene panel test. Cancer 2017 Nov 123 (22): 4363-4371. Nguyen Kevin A, Syed Jamil S, Espenschied Carin R, LaDuca Holly, Bhagat Ansh M, Suarez-Sarmiento Alfredo, O'Rourke Timothy K, Brierley Karina L, Hofstatter Erin W, Shuch Bri |
Targeted exome sequencing of Korean triple-negative breast cancer reveals homozygous deletions associated with poor prognosis of adjuvant chemotherapy-treated patients. Oncotarget 2017 Sep 8 (37): 61538-61550. Jeong Hae Min, Kim Ryong Nam, Kwon Mi Jeong, Oh Ensel, Han Jinil, Lee Se Kyung, Choi Jong-Sun, Park Sara, Nam Seok Jin, Gong Gyung Yup, Nam Jin Wu, Choi Doo Ho, Lee Hannah, Nam Byung-Ho, Choi Yoon-La, Shin Young K |
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 |
Expanded analysis of secondary germline findings from matched tumor/normal sequencing identifies additional clinically significant mutations. JCO precision oncology 2019 9 3 . Dumbrava E Ileana, Brusco L, Daniels M, Wathoo C, Shaw K, Lu K, Zheng X, Strong L, Litton J, Arun B, Eterovic A K, Routbort M, Patel K, Qi Yuan, Piha-Paul S, Subbiah V, Hong D, Rodon J, Kopetz S, Mendelsohn J, Mills G B, Chen K, Meric-Bernstam |
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 |
Pathogenic germline variants in patients with features of hereditary renal cell carcinoma: Evidence for further locus heterogeneity. Genes, chromosomes & cancer 2020 Aug . Smith Philip S, West Hannah, Whitworth James, Castle Bruce, Sansbury Francis H, Warren Anne Y, Woodward Emma R, Tischkowitz Marc, Maher Eamonn |
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 |
Germline alterations in patients with biliary tract cancers: A spectrum of significant and previously underappreciated findings. Cancer 2020 Feb . Maynard Hannah, Stadler Zsofia K, Berger Michael F, Solit David B, Ly Michele, Lowery Maeve A, Mandelker Diana, Zhang Liying, Jordan Emmett, El Dika Imane, Kemel Yelena, Ladanyi Marc, Robson Mark E, O'Reilly Eileen M, Abou-Alfa Ghassan |
Identification of Novel BRCA1 and RAD50 Mutations Associated With Breast Cancer Predisposition in Tunisian Patients. Frontiers in genetics 2020 11 552971. Mighri Najah, Hamdi Yosr, Boujemaa Maroua, Othman Houcemeddine, Ben Nasr Sonia, El Benna Houda, Mejri Nesrine, Labidi Soumaya, Ayari Jihen, Jaidene Olfa, Bouaziz Hanen, Ben Rekaya Mariem, M'rad Ridha, Haddaoui Abderrazek, Rahal Khaled, Boussen Hamouda, Boubaker Samir, Abdelhak Son |
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 |
Effect of BsaA I genotyped intronic SNP of leptin gene on production and reproduction traits in Indian dairy cattle. Animal biotechnology 2021 8 1-7. Yadav Tejwanti, Magotra Ankit, Bangar Yogesh C, Kumar Ramesh, Yadav A S, Garg Asha Rani, Bahurupi Pooja, Kumar Pank |
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 |
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 |
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 |
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 |
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 |
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