HuGE Literature Finder
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| Bioinformatics analysis of GNAQ, GNA11, BAP1, SF3B1,SRSF2, EIF1AX, PLCB4, and CYSLTR2 genes and their role in the pathogenesis of Uveal Melanoma. Ophthalmic genetics 2021 Aug 1-12. Akin-Bali Dilara Fat |
| Targeting the YAP/TAZ Pathway in Uveal and Conjunctival Melanoma With Verteporfin. Investigative ophthalmology & visual science 2021 Apr 62 (4): 3. Brouwer Niels J, Konstantinou Eleni K, Gragoudas Evangelos S, Marinkovic Marina, Luyten Gregorius P M, Kim Ivana K, Jager Martine J, Vavvas Demetrios |
| Integrative Genomic Analyses of Patient-Matched Intracranial and Extracranial Metastases Reveal a Novel Brain-Specific Landscape of Genetic Variants in Driver Genes of Malignant Melanoma. Cancers 2021 Feb 13 (4): . Váraljai Renáta, Horn Susanne, Sucker Antje, Piercianek Daniela, Schmitt Verena, Carpinteiro Alexander, Becker Katrin Anne, Reifenberger Julia, Roesch Alexander, Felsberg Joerg, Reifenberger Guido, Sure Ulrich, Schadendorf Dirk, Helfrich Ir |
| Role of somatic mutations and chromosomal aberrations in the prognosis of uveal melanoma in a Spanish patient cohort. Acta ophthalmologica 2021 Jan . Silva-Rodríguez Paula, Bande Manuel, Fernández-Díaz Daniel, Lago-Baameiro Nerea, Pardo María, José Blanco-Teijeiro María, Domínguez Fernando, Loidi Lourdes, Piñeiro Anton |
| 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 |
| Germline loss-of-function variants in MBD4 are rare in Finnish patients with uveal melanoma. Pigment cell & melanoma research 2020 May . Repo Pauliina, Jäntti Johannes E, Järvinen Reetta-Stiina, Rantala Elina S, Täll Martin, Raivio Virpi, Kivelä Tero T, Turunen Joni |
| 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 |
| Whole Exome Sequencing Identifies Candidate Genes Associated with Hereditary Predisposition to Uveal Melanoma. Ophthalmology 2019 Nov . Abdel-Rahman Mohamed H, Sample Klarke M, Pilarski Robert, Walsh Tomas, Grosel Timothy, Kinnamon Daniel, Boru Getachew, Massengill James B, Schoenfield Lynn, Kelly Ben, Gordon David, Johansson Peter, DeBenedictis Meghan J, Singh Arun, Casadei Silvia, Davidorf Frederick H, White Peter, Stacey Andrew W, Scarth James, Fewings Ellie, Tischkowitz Marc, King Mary-Claire, Hayward Nicholas K, Cebulla Colleen |
Genome-wide study on uveal melanoma patients finds association to DNA repair gene TDP1.
Melanoma research 2019 Oct . Thomsen Hauke, Chattopadhyay Subhayan, Hoffmann Per, Nöthen Markus M, Kalirai Helen, Coupland Sarah E, Jonas Jost B, Hemminki Kari, Försti As |
| Secondary Somatic Mutations in G-Protein-Related Pathways and Mutation Signatures in Uveal Melanoma. Cancers 2019 Oct 11 (11): . Piaggio Francesca, Tozzo Veronica, Bernardi Cinzia, Croce Michela, Puzone Roberto, Viaggi Silvia, Patrone Serena, Barla Annalisa, Coviello Domenico, J Jager Martine, van der Velden Pieter A, Zeschnigk Michael, Cangelosi Davide, Eva Alessandra, Pfeffer Ulrich, Amaro Adria |
| Targeted germline sequencing of patients with three or more primary melanomas reveals high rate of pathogenic variants. Melanoma research 2019 Sep . Li Christopher, Liu Tong, Tavtigian Sean V, Boucher Kenneth, Kohlmann Wendy, Cannon-Albright Lisa, Grossman Dougl |
| Germline and somatic mutations in patients with multiple primary melanomas: a next generation sequencing study. BMC cancer 2019 Aug 19 (1): 772. Casula Milena, Paliogiannis Panagiotis, Ayala Fabrizio, De Giorgi Vincenzo, Stanganelli Ignazio, Mandalà Mario, Colombino Maria, Manca Antonella, Sini Maria Cristina, Caracò Corrado, Ascierto Paolo Antonio, Satta Rosanna Rita, , Lissia Amelia, Cossu Antonio, Palmieri Giuseppe, |
| Multi-Modality Analysis Improves Survival Prediction in Enucleated Uveal Melanoma Patients. Investigative ophthalmology & visual science 2019 Aug 60 (10): 3595-3605. Drabarek Wojtek, Yavuzyigitoglu Serdar, Obulkasim Askar, van Riet Job, Smit Kyra N, van Poppelen Natasha M, Vaarwater Jolanda, Brands Tom, Eussen Bert, Verdijk Robert M, Naus Nicole C, Mensink Hanneke W, Paridaens Dion, Boersma Eric, van de Werken Harmen J G, Kilic Emine, de Klein Annelies, |
| Integrative Copy Number Analysis of Uveal Melanoma Reveals Novel Candidate Genes Involved in Tumorigenesis Including a Tumor Suppressor Role for PHF10/BAF45a. Clinical cancer research : an official journal of the American Association for Cancer Research 2019 Jun . Anbunathan Hima, Verstraten Ruth, Singh Arun D, Harbour J William, Bowcock Anne |
| Germline large deletion of BAP1 and decreased expression in non-tumor choroid in uveal melanoma patients with high risk for inherited cancer. Genes, chromosomes & cancer 2019 Mar . Boru Getachew, Grosel Timothy W, Pilarski Robert, Stautberg Meredith, Massengill James B, Jeter Joanne, Singh Arun, Marino Meghan J, McElroy Joseph P, Davidorf Frederick H, Cebulla Colleen M, Abdel-Rahman Mohamed |
| Next-Generation Sequencing of Uveal Melanoma for Detection of Genetic Alterations Predicting Metastasis. Translational vision science & technology 2019 Mar 8 (2): 18. Afshar Armin R, Damato Bertil E, Stewart Jay M, Zablotska Lydia B, Roy Ritu, Olshen Adam B, Joseph Nancy M, Bastian Boris |
| Molecular and immunohistochemical analyses of uveal melanoma patient cohort. Melanoma research 2019 06 29 (3): 248-253. Sarubi Helena C, Pereira Núbia B, Gomes Carolina C, Gomez Ricardo S, Carmo Ana C M, Melo Flavia M, Bastos-Rodrigues Luciana, Pedrosa Moisés S, Friedman Eitan, De Marco Lu |
| Histomorphologic spectrum of germline-related and sporadic BAP1-inactivated melanocytic tumors. Journal of the American Academy of Dermatology 2018 May . Garfield Erin M, Walton Kara E, Quan Victor L, VandenBoom Timothy, Zhang Bin, Kong Betty Y, Isales Maria Cristina, Panah Elnaz, Kim Gene, Gerami Pedr |
| Genetic Background of Iris Melanomas and Iris Melanocytic Tumors of Uncertain Malignant Potential. Ophthalmology 2018 Jan . van Poppelen Natasha M, Vaarwater Jolanda, Mudhar Hardeep S, Sisley Karen, Rennie Ian G, Rundle Paul, Brands Tom, van den Bosch Quincy C C, Mensink Hanneke W, de Klein Annelies, Kiliç Emine, Verdijk Robert |
| Common, germline genetic variations in the novel tumor suppressor BAP1 and risk of developing different types of cancer. Oncotarget 2017 Sep 8 (43): 74936-74946. Lin Moubin, Zhang Liren, Hildebrandt Michelle A T, Huang Maosheng, Wu Xifeng, Ye Yuanqi |
| Frequent GNAQ, GNA11, and EIF1AX Mutations in Iris Melanoma. Investigative ophthalmology & visual science 2017 Jul 58 (9): 3464-3470. Scholz Simone L, Möller Inga, Reis Henning, Süßkind Daniela, van de Nes Johannes A P, Leonardelli Sonia, Schilling Bastian, Livingstone Elisabeth, Schimming Tobias, Paschen Annette, Sucker Antje, Murali Rajmohan, Steuhl Klaus-Peter, Schadendorf Dirk, Westekemper Henrike, Griewank Klaus |
| Loss of nuclear BAP1 expression is associated with poor prognosis in oral mucosal melanoma. Oncotarget 2017 Mar . Song Hao, Wang Lizhen, Lyu Jiong, Wu Yunteng, Guo Wei, Ren Guox |
| 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 |
| TET2 binds the androgen receptor and loss is associated with prostate cancer. Oncogene 2016 Nov . Nickerson M L, Das S, Im K M, Turan S, Berndt S I, Li H, Lou H, Brodie S A, Billaud J N, Zhang T, Bouk A J, Butcher D, Wang Z, Sun L, Misner K, Tan W, Esnakula A, Esposito D, Huang W Y, Hoover R N, Tucker M A, Keller J R, Boland J, Brown K, Anderson S K, Moore L E, Isaacs W B, Chanock S J, Yeager M, Dean M, Andresson |
| Germline BAP1 alterations in familial uveal melanoma. Genes, chromosomes & cancer 2016 Oct . Rai Karan, Pilarski Robert, Boru Getachew, Rehman Muneeb, Saqr Ahmad H, Massengill James B, Singh Arun, Marino Meghan J, Davidorf Frederick H, Cebulla Colleen M, Abdel-Rahman Moham |
| BRCA-associated protein 1 mutant cholangiocarcinoma: an aggressive disease subtype. Journal of gastrointestinal oncology 2016 Aug 7 (4): 556-61. Al-Shamsi Humaid O, Anand Deepa, Shroff Rachna T, Jain Apurva, Zuo Mingxin, Conrad Claudius, Vauthey Jean-Nicolas, Javle Milind |
| 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 |
| Metastatic Disease in Polyploid Uveal Melanoma Patients Is Associated With BAP1 Mutations. Investigative ophthalmology & visual science 2016 Apr 57 (4): 2232-9. Yavuzyigitoglu Serdar, Mensink Hanneke W, Smit Kyra N, Vaarwater Jolanda, Verdijk Robert M, Beverloo Berna, Brüggenwirth Hennie T, van Marion Ronald, Dubbink Hendrikus J, Paridaens Dion, Naus Nicole C, de Klein Annelies, Kiliç Emine, |
| PRAME as an Independent Biomarker for Metastasis in Uveal Melanoma. Clinical cancer research : an official journal of the American Association for Cancer Research 2016 Mar 22 (5): 1234-42. Field Matthew G, Decatur Christina L, Kurtenbach Stefan, Gezgin Gülçin, van der Velden Pieter A, Jager Martine J, Kozak Kaleigh N, Harbour J Willi |
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- Page last updated:Aug 10, 2022
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