Human Genome Epidemiology Literature Finder
Records 1 - 29 (of 29 Records) |
Query Trace: Melanoma and POT1[original query] |
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Genetic variants in telomere-maintaining genes and skin cancer risk. Human genetics 2011 Mar 129 (3): 247-53. Nan Hongmei, Qureshi Abrar A, Prescott Jennifer, De Vivo Immaculata, Han Jia |
Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanoma. Journal of the National Cancer Institute 2015 Feb 107 (2): . Aoude Lauren G, Pritchard Antonia L, Robles-Espinoza Carla Daniela, Wadt Karin, Harland Mark, Choi Jiyeon, Gartside Michael, Quesada Víctor, Johansson Peter, Palmer Jane M, Ramsay Andrew J, Zhang Xijun, Jones Kristine, Symmons Judith, Holland Elizabeth A, Schmid Helen, Bonazzi Vanessa, Woods Susan, Dutton-Regester Ken, Stark Mitchell S, Snowden Helen, van Doorn Remco, Montgomery Grant W, Martin Nicholas G, Keane Thomas M, López-Otín Carlos, Gerdes Anne-Marie, Olsson Håkan, Ingvar Christian, Borg Ake, Gruis Nelleke A, Trent Jeffrey M, Jönsson Göran, Bishop D Timothy, Mann Graham J, Newton-Bishop Julia A, Brown Kevin M, Adams David J, Hayward Nicholas |
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 |
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 |
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 |
Germline Variants in the POT1-Gene in High-Risk Melanoma Patients in Austria. G3 (Bethesda, Md.) 2018 3 8 (5): 1475-1480. Müller Christoph, Krunic Milica, Wendt Judith, von Haeseler Arndt, Okamoto Ichi |
Association of the POT1 Germline Missense Variant p.I78T With Familial Melanoma. JAMA dermatology 2018 12 155 (5): 604-609. Wong Kim, Robles-Espinoza Carla Daniela, Rodriguez David, Rudat Saskia S, Puig Susana, Potrony Miriam, Wong Chi C, Hewinson James, Aguilera Paula, Puig-Butille Joan Anton, Bressac-de Paillerets Brigitte, Zattara Hélène, van der Weyden Louise, Fletcher Christopher D M, Brenn Thomas, Arends Mark J, Quesada Víctor, Newton-Bishop Julia A, Lopez-Otin Carlos, Bishop D Timothy, Harms Paul W, Johnson Timothy M, Durham Alison B, Lombard David B, Adams David |
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 |
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, |
POT1 pathogenic variants: not all telomere pathway genes are equal in risk of hereditary cutaneous melanoma. The British journal of dermatology 2019 Jul 181 (1): 14-15. Toland A |
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 |
Constitutional variants in POT1, TERF2IP, and ACD genes in patients with melanoma in the Polish population. European journal of cancer prevention : the official journal of the European Cancer Prevention Organisation (ECP) 2020 9 29 (6): 511-519. Mali?ska Karolina, Deptu?a Jakub, Rogo?a-Janiszewska Emilia, Górski Bohdan, Scott Rodney, Rudnicka Helena, Kashyap Aniruddh, Domaga?a Pawe?, Hybiak Jolanta, Masoj? Bart?omiej, Cybulski Cezary, Kram Andrzej, Boer Magdalena, Kiedrowicz Magdalena, Lubi?ski Jan, D?bniak Tadeu |
Melanoma Genomics. Acta dermato-venereologica 2020 4 100 (11): adv00138. Newton-Bishop Julia, Bishop D Timothy, Harland Ma |
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 |
Histologic features of melanoma associated with germline mutations of CDKN2A, CDK4, and POT1 in melanoma-prone families from the United States, Italy, and Spain. Journal of the American Academy of Dermatology 2020 4 83 (3): 860-869. Sargen Michael R, Calista Donato, Elder David E, Massi Daniela, Chu Emily Y, Potrony Míriam, Pfeiffer Ruth M, Carrera Cristina, Aguilera Paula, Alos Llucia, Puig Susana, Elenitsas Rosalie, Yang Xiaohong R, Tucker Margaret A, Landi Maria Teresa, Goldstein Alisa |
Lack of Mutations in POT1 Gene in Selected Families with Familial Non-Medullary Thyroid Cancer. Hormones & cancer 2020 3 11 (2): 111-116. Orois Aida, Badenas Celia, Reverter Jordi L, López Verónica, Potrony Miriam, Mora Mireia, Halperin Irene, Oriola Jos |
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 |
Identification of Germline Mutations in Melanoma Patients with Early Onset, Double Primary Tumors, or Family Cancer History by NGS Analysis of 217 Genes. Biomedicines 2020 Oct 8 (10): . Stolarova Lenka, Jelinkova Sandra, Storchova Radka, Machackova Eva, Zemankova Petra, Vocka Michal, Kodet Ondrej, Kral Jan, Cerna Marta, Volkova Zuzana, Janatova Marketa, Soukupova Jana, Stranecky Viktor, Dundr Pavel, Foretova Lenka, Macurek Libor, Kleiblova Petra, Kleibl Zden |
Genetic markers for characterization and prediction of prognosis of melanoma subtypes: a 2021 update. Italian journal of dermatology and venereology 2021 5 156 (3): 322-330. Podlipnik Sebastian, Potrony Miriam, Puig Susa |
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, |
Unusual suspects in hereditary melanoma: POT1, POLE, BAP1. Trends in genetics : TIG 2022 7 38 (12): 1204-1207. Maas Ellie J, Betz-Stablein Brigid, Aoude Lauren G, Soyer H Peter, McInerney-Leo Aideen |
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 |
Does a Multiple Myeloma Polygenic Risk Score Predict Overall Survival of Patients with Myeloma? Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2022 Jun . Macauda Angelica, Clay-Gilmour Alyssa, Hielscher Thomas, Hildebrandt Michelle A T, Kruszewski Marcin, Orlowski Robert Z, Kumar Shaji K, Ziv Elad, Orciuolo Enrico, Brown Elizabeth E, Försti Asta, Waller Rosalie G, Machiela Mitchell J, Chanock Stephen J, Camp Nicola J, Rymko Marcin, Ra?ny Ma?gorzata, Cozen Wendy, Várkonyi Judit, Piredda Chiara, Pelosini Matteo, Belachew Alem A, Subocz Edyta, Hemminki Kari, Rybicka-Ramos Malwina, Giles Graham G, Milne Roger L, Hofmann Jonathan N, Zaucha Jan Maciej, Vangsted Annette Juul, Goldschmidt Hartmut, Rajkumar S Vincent, Tomczak Waldemar, Sainz Juan, Butrym Aleksandra, Watek Marzena, Iskierka-Jazdzewska El?bieta, Buda Gabriele, Robinson Dennis P, Jurczyszyn Artur, Dudzi?ski Marek, Martinez-Lopez Joaquin, Sinnwell Jason P, Slager Susan L, Jamroziak Krzysztof, Reis Rui Manuel Vieira, Weinhold Niels, Bhatti Parveen, Carvajal-Carmona Luis G, Zawirska Daria, Norman Aaron D, Mazur Grzegorz, Berndt Sonja I, Campa Daniele, Vachon Celine M, Canzian Federi |
Identification of a Cancer-Predisposing Germline POT1 p.Ile49Metfs*7 Variant by Targeted Sequencing of a Splenic Marginal Zone Lymphoma. Genes 2022 4 13 (4): . Jajosky Audrey N, Mitchell Anna L, Akgul Mahmut, Shetty Shashirekha, Yoest Jennifer M, Gerson Stanton L, Sadri Navid, Oduro Kwadwo |
Population-based analysis of POT1 variants in a cutaneous melanoma case-control cohort. Journal of medical genetics 2022 12 . Simonin-Wilmer Irving, Ossio Raul, Leddin Emmett M, Harland Mark, Pooley Karen A, Martil de la Garza Mauricio Gerardo, Obolenski Sofia, Hewinson James, Wong Chi C, Iyer Vivek, Taylor John C, Newton-Bishop Julia A, Bishop D Timothy, Cisneros Gerardo Andrés, Iles Mark M, Adams David J, Robles-Espinoza Carla Danie |
Family-based whole-exome sequencing identifies rare variants potentially related to cutaneous melanoma predisposition in Brazilian melanoma-prone families. PloS one 2022 1 17 (1): e0262419. Fidalgo Felipe, Torrezan Giovana Tardin, Sá Bianca Costa Soares de, Barros Bruna Durães de Figueiredo, Moredo Luciana Facure, Valieris Renan, de Souza Sandro J, Duprat João Pereira, Krepischi Ana Cristina Victorino, Carraro Dirce Mar |
TINF2 is a major susceptibility gene in Danish patients with multiple primary melanoma. HGG advances 2023 8 4 (4): 100225. Marlene Richter Jensen, Anne Marie Jelsig, Anne-Marie Gerdes, Lisbet Rosenkrantz Hölmich, Kati Hannele Kainu, Henrik Frank Lorentzen, Mary Højgaard Hansen, Mads Bak, Peter A Johansson, Nicholas K Hayward, Thomas Van Overeem Hansen, Karin A W Wa |
High- and intermediate-risk susceptibility variants in melanoma families from the Mediterranean area: a multicenter cohort from the MelaNostrum Consortium. Journal of the European Academy of Dermatology and Venereology : JEADV 2023 8 . C Pellegrini, L Cardelli, P Ghiorzo, L Pastorino, M Potrony, Z García-Casado, L Elefanti, I Stefanaki, M Mastrangelo, S Necozione, P Aguilera, A Rodríguez-Hernández, L Di Nardo, T Rocco, L Del Regno, C Badenas, C Carrera, J Malvehy, C Requena, J Bañuls, A J Stratigos, K Peris, C Menin, D Calista, E Nagore, S Puig, M T Landi, M C Fargno |
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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