HuGE Literature Finder
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| 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 |
| Pathogenic germline variants are associated with poor survival in stage III/IV melanoma patients. Scientific reports 2020 Oct 10 (1): 17687. Aoude Lauren G, Bonazzi Vanessa F, Brosda Sandra, Patel Kalpana, Koufariotis Lambros T, Oey Harald, Nones Katia, Wood Scott, Pearson John V, Lonie James M, Arneil Melissa, Atkinson Victoria, Smithers B Mark, Waddell Nicola, Barbour Andrew |
| 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 |
| 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 |
| POT1 germline mutations but not TERT promoter mutations are implicated in melanoma susceptibility in a large cohort of Spanish melanoma families. The British journal of dermatology 2019 Jul 181 (1): 105-113. Potrony M, Puig-Butille J A, Ribera-Sola M, Iyer V, Robles-Espinoza C D, Aguilera P, Carrera C, Malvehy J, Badenas C, Landi M T, Adams D J, Puig |
| CDKN2A/CDK4 Status in Greek Patients with Familial Melanoma and Association with Clinico-epidemiological Parameters. Acta dermato-venereologica 2018 May . Karagianni Fani, Njauw Ching-Ni, Kypreou Katerina P, Stergiopoulou Aravela, Plaka Michaela, Polydorou Dorothea, Chasapi Vasiliki, Pappas Leon, Stratigos Ioannis, Champsas Gregory, Panagiotou Peter, Gogas Helen, Evangelou Evangelos, Tsao Hensin, Stratigos Alexander, Stefanaki Ire |
| 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 |
| Comparative study on driver mutations in primary and metastatic melanomas at a single Japanese institute: A clue for intra- and inter-tumor heterogeneity. Journal of dermatological science 2016 Oct . Kaji Tatsuya, Yamasaki Osamu, Takata Minoru, Otsuka Masaki, Hamada Toshihisa, Morizane Shin, Asagoe Kenji, Yanai Hiroyuki, Hirai Yoji, Umemura Hiroshi, Iwatsuki Kei |
| 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 Germline Copy Number Variations and Disease Susceptibility in Familial Melanoma. The Journal of investigative dermatology 2016 Jul . Shi Jianxin, Zhou Weiyin, Zhu Bin, Hyland Paula L, Bennett Hunter, Xiao Yanzi, Zhang Xijun, Burke Laura S, Song Lei, Hsu Chih Hao, Yan Chunhua, Chen Qingrong, Meerzaman Daoud, Dagnall Casey L, Burdette Laurie, Hicks Belynda, Freedman Neal D, Chanock Stephen J, Yeager Meredith, Tucker Margaret A, Goldstein Alisa M, Yang Xiaohong |
| 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 |
| Epidemiology and genetic susceptibility of malignant melanoma in North Sardinia, Italy. European journal of cancer prevention : the official journal of the European Cancer Prevention Organisation (ECP) 2016 Mar . Cossu Antonio, Casula Milena, Cesaraccio Rosaria, Lissia Amelia, Colombino Maria, Sini Maria C, Budroni Mario, Tanda Francesco, Paliogiannis Panagiotis, Palmieri Giusep |
| Multiple primary melanomas (MPMs) and criteria for genetic assessment: MultiMEL, a multicenter study of the Italian Melanoma Intergroup. Journal of the American Academy of Dermatology 2016 Feb 74 (2): 325-32. Bruno William, Pastorino Lorenza, Ghiorzo Paola, Andreotti Virginia, Martinuzzi Claudia, Menin Chiara, Elefanti Lisa, Stagni Camilla, Vecchiato Antonella, Rodolfo Monica, Maurichi Andrea, Manoukian Siranoush, De Giorgi Vincenzo, Savarese Imma, Gensini Francesca, Borgognoni Lorenzo, Testori Alessandro, Spadola Giuseppe, Mandalà Mario, Imberti Gianlorenzo, Savoia Paola, Astrua Chiara, Ronco Anna Maria, Farnetti Alessandra, Tibiletti Maria Grazia, Lombardo Maurizio, Palmieri Giuseppe, Ayala Fabrizio, Ascierto Paolo, Ghigliotti Giovanni, Muggianu Marisa, Spagnolo Francesco, Picasso Virginia, Tanda Enrica Teresa, Queirolo Paola, Bianchi-Scarrà Giovan |
| 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 |
| Absence of germline CDKN2A mutation in Sicilian patients with familial malignant melanoma: Could it be a population-specific genetic signature? Cancer biology & therapy 2015 Dec 0. Di Lorenzo Sara, Fanale Daniele, Corradino Bartolo, Calo Valentina, Rinaldi Gaetana, Bazan Viviana, Giordano Antonio, Cordova Adriana, Russo Anton |
| Germline TERT promoter mutations are rare in familial melanoma. Familial cancer 2015 Oct . Harland Mark, Petljak Mia, Robles-Espinoza Carla Daniela, Ding Zhihao, Gruis Nelleke A, van Doorn Remco, Pooley Karen A, Dunning Alison M, Aoude Lauren G, Wadt Karin A W, Gerdes Anne-Marie, Brown Kevin M, Hayward Nicholas K, Newton-Bishop Julia A, Adams David J, Bishop D Timot |
| Novel CDKN2A mutations in Austrian melanoma patients. Melanoma research 2015 Oct 25 (5): 412-20. Burgstaller-Muehlbacher Sebastian, Marko Martha, Müller Christoph, Wendt Judith, Pehamberger Hubert, Okamoto Ichi |
| POLE mutations in families predisposed to cutaneous melanoma. Familial cancer 2015 Aug . Aoude Lauren G, Heitzer Ellen, Johansson Peter, Gartside Michael, Wadt Karin, Pritchard Antonia L, Palmer Jane M, Symmons Judith, Gerdes Anne-Marie, Montgomery Grant W, Martin Nicholas G, Tomlinson Ian, Kearsey Stephen, Hayward Nicholas |
| Prevalence of Germline BAP1, CDKN2A, and CDK4 Mutations in an Australian Population-Based Sample of Cutaneous Melanoma Cases. Twin research and human genetics : the official journal of the International Society for Twin Studies 2015 Apr 18 (2): 126-33. Aoude Lauren G, Gartside Michael, Johansson Peter, Palmer Jane M, Symmons Judith, Martin Nicholas G, Montgomery Grant W, Hayward Nicholas |
| 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 |
| Analysis of Latvian familial melanoma patients shows novel variants in the noncoding regions of CDKN2A and that the CDK4 mutation R24H is a founder mutation. Melanoma research 2013 Jun 23 (3): 221-6. Veinalde R?ta, Ozola Aija, Azarjana Krist?ne, Molven Anders, Akslen Lars A, Doni?a Simona, Proboka Guna, C?ma Ingr?da, Baginskis Ain?rs, Pjanova Da |
| Genetic variations of patients with familial or multiple melanoma in Southern Brazil. Journal of the European Academy of Dermatology and Venereology : JEADV 2013 Feb 27 (2): e179-85. Grazziotin T C, Rey M C W, Bica C G, Pinto L A, Bonamigo R R, Puig-Butille J A, Cuellar F, Puig |
| MC1R variation and melanoma risk in relation to host/clinical and environmental factors in CDKN2A positive and negative melanoma patients. Experimental dermatology 2012 Sep 21 (9): 718-20. Ghiorzo Paola, Bonelli Luigina, Pastorino Lorenza, Bruno William, Barile Monica, Andreotti Virginia, Nasti Sabina, Battistuzzi Linda, Grosso Marco, Bianchi-Scarrà Giovanna, Queirolo Pao |
| Analysis of the miR-34a locus in 62 patients with familial cutaneous melanoma negative for CDKN2A/CDK4 screening. Familial cancer 2011 Dec . Cozzolino AM, Pedace L, Castori M, De Simone P, Preziosi N, Sperduti I, Panetta C, Mogini V, De Bernardo C, Morrone A, Catricalà C, Grammatico P |
| Comprehensive mutational analysis of CDKN2A and CDK4 in Greek patients with cutaneous melanoma. The British journal of dermatology 2011 Dec 165 (6): 1219-22. Nikolaou V, Kang X, Stratigos A, Gogas H, Latorre M C, Gabree M, Plaka M, Njauw C N, Kypreou K, Mirmigi I, Stefanaki I, Tsao |
| EDNRB gene variants and melanoma risk in two southern European populations. Clinical and experimental dermatology 2011 Oct 36 (7): 782-7. Spica T, Fargnoli M C, Hetet G, Bertrand G, Formicone F, Descamps V, Wolkenstein P, Dupin N, Lebbe C, Basset-Seguin N, Saiag P, Cambien F, Grandchamp B, Peris K, Soufir |
| A flexible multiplex bead-based assay for detecting germline CDKN2A and CDK4 variants in melanoma-prone kindreds. The Journal of investigative dermatology 2011 Feb 131 (2): 480-6. Lang Julie M, Shennan Michael, Njauw Jenny C-N, Luo Su, Bishop Julia N, Harland Mark, Hayward Nicholas K, Tucker Margaret A, Goldstein Alisa M, Landi Maria T, Puig Susana, Gruis Nelleke A, Bergman Wilma, Bianchi-Scarra Giovanna, Ghiorzo Paola, Hogg David, Tsao Hens |
| 3'UTR-CDKN2A and CDK4 Germline Variants Are Associated With Susceptibility to Cutaneous Melanoma. In vivo (Athens, Greece) 0 35 (3): 1529-1536. Tovar-Parra David, Gil-Quiñones Sebastián Ramiro, Nova John, Gutiérrez-Castañeda Luz |
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