Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 36 Records) |
Query Trace: Melanoma and ATM[original query] |
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Rare germline variants in known melanoma susceptibility genes in familial melanoma. Human molecular genetics 2017 Oct . Goldstein Alisa M, Xiao Yanzi, Sampson Joshua, Zhu Bin, Rotunno Melissa, Bennett Hunter, Wen Yixuan, Jones Kristine, Vogt Aurelie, Burdette Laurie, Luo Wen, Zhu Bin, Yeager Meredith, Hicks Belynda, Han Jiali, De Vivo Immaculata, Koutros Stella, Andreotti Gabriella, Beane-Freeman Laura, Purdue Mark, Freedman Neal D, Chanock Stephen J, Tucker Margaret A, Yang Xiaohong |
Isocitrate dehydrogenase 1 mutations in melanoma frequently co-occur with NRAS mutations. Histopathology 2018 7 73 (6): 963-968. Linos Konstantinos, Tafe Laura |
Cytogenetic/mutation profile of chronic lymphocytic leukemia/malignant melanoma collision tumors of the skin. Molecular cytogenetics 2018 1 11 6. La Starza Roberta, Pierini Tiziana, Pastorino Lorenza, Albi Elisa, Matteucci Caterina, Crescenzi Barbara, Sportoletti Paolo, Covarelli Piero, Falzetti Franca, Roti Giovanni, Ascani Stefano, Mecucci Cristi |
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, |
Prognostic relevance of ATM protein in uveal melanoma and its association with clinicopathological factors. International journal of clinical oncology 2019 Aug . Jha Jayanti, Singh Mithalesh Kumar, Singh Lata, Pushker Neelam, Bajaj Mandeep Singh, Sen Seema, Kashyap See |
Expression of BAP1 and ATM proteins: Association with AJCC tumor category in uveal melanoma. Annals of diagnostic pathology 2019 12 44 151432. Jha Jayanti, Singh Mithalesh Kumar, Singh Lata, Pushker Neelam, Bajaj Mandeep Singh, Sen Seema, Kashyap See |
Applicability of Routine Targeted Next-generation Sequencing to Estimate Tumor Mutational Burden (TMB) in Patients Treated With Immune Checkpoint Inhibitor Therapy. Journal of immunotherapy (Hagerstown, Md. : 1997) 2019 Sep . Pinato David J, Urus Heather, Newsom-Davis Thomas, Du Parcq Persephone, Belessiotis Katherine, Mapara Leah, Gupta Nandita, Power Danielle, Weir Justin, Wong Ching Ngar, Ratnakumaran Ragu P, Dominy Kathy, Khorashad Jamshid, Bower Ma |
Genetic analysis of subsequent second primary malignant neoplasms in long-term pancreatic cancer survivors suggests new potential hereditary genetic alterations. Cancer management and research 2019 11 599-609. Lovecek Martin, Janatova Marketa, Skalicky Pavel, Zemanek Tomas, Havlik Roman, Ehrmann Jiri, Strouhal Ondrej, Zemankova Petra, Lhotova Klara, Borecka Marianna, Soukupova Jana, Svebisova Hana, Soucek Pavel, Hlavac Viktor, Kleibl Zdenek, Neoral Cestmir, Melichar Bohuslav, Mohelnikova-Duchonova Beatri |
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 |
The prognostic role of BRAF and WNT pathways activation in kinase inhibitors-naïve clinical stage III cutaneous melanoma. Melanoma research 2020 Feb . Kowalik Artur, Jurkowska Monika, Mierzejewska Ewa, ?ugowska Iwona, Gos Aleksandra, Szumera-Cie?kiewicz Anna, Zi?ba Sebastian, Kose?a-Paterczyk Hanna, van der Oord Joost, D?biec-Rychter Maria, Szamotulska Katarzyna, Siedlecki Janusz, Rutkowski Pio |
Differences in Genomic Alterations Between Brain Metastases and Primary Tumors. Neurosurgery 2020 Dec . Dono Antonio, Takayasu Takeshi, Yan Yuanqing, Bundrant Bethany E, Arevalo Octavio, Lopez-Garcia Carlos A, Esquenazi Yoshua, Ballester Leomar |
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 |
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 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 |
The prevalence of homologous recombination deficiency (HRD) in various solid tumors and the role of HRD as a single biomarker to immune checkpoint inhibitors. Journal of cancer research and clinical oncology 2021 Sep . Kim Hana, Ahn Soomin, Kim Hongsik, Hong Jung Yong, Lee Jeeyun, Park Se Hoon, Park Joon Oh, Park Young Suk, Lim Ho Yeong, Kang Won Ki, Kim Kyoung-Mee, Kim Seung T |
Germline ATM variants predispose to melanoma: a joint analysis across the GenoMEL and MelaNostrum consortia. Genetics in medicine : official journal of the American College of Medical Genetics 2021 7 23 (11): 2087-2095. Dalmasso B, Pastorino L, Nathan V, Shah N N, Palmer J M, Howlie M, Johansson P A, Freedman N D, Carter B D, Beane-Freeman L, Hicks B, Molven A, Helgadottir H, Sankar A, Tsao H, Stratigos A J, Helsing P, Van Doorn R, Gruis N A, Visser M, Wadt K A W, Mann G, Holland E A, Nagore E, Potrony M, Puig S, Menin C, Peris K, Fargnoli M C, Calista D, Soufir N, Harland M, Bishop T, Kanetsky P A, Elder D E, Andreotti V, Vanni I, Bruno W, Höiom V, Tucker M A, Yang X R, Andresen P A, Adams D J, Landi M T, Hayward N K, Goldstein A M, Ghiorzo P, , |
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 |
Germline Pathogenic Variants in the Ataxia Telangiectasia Mutated (ATM) Gene are Associated with High and Moderate Risks for Multiple Cancers. Cancer prevention research (Philadelphia, Pa.) 2021 Jan . Hall Michael J, Bernhisel Ryan, Hughes Elisha, Larson Katie, Rosenthal Eric T, Singh Nanda A, Lancaster Johnathan M, Kurian Allison |
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 |
Pancreatic Cancer with Mutation in BRCA1/2, MLH1, and APC Genes: Phenotype Correlation and Detection of a Novel Germline BRCA2 Mutation. Genes 2022 2 13 (2): . Vietri Maria Teresa, D'Elia Giovanna, Caliendo Gemma, Albanese Luisa, Signoriello Giuseppe, Napoli Claudio, Molinari Anna Mar |
Ataxia-Telangiectasia Mutated Loss of Heterozygosity in Melanoma. International journal of molecular sciences 2022 12 23 (24): . Pastorino Lorenza, Dalmasso Bruna, Allavena Eleonora, Vanni Irene, Ugolini Filippo, Baroni Gianna, Croce Michela, Guadagno Antonio, Cabiddu Francesco, Andreotti Virginia, Bruno William, Zoppoli Gabriele, Ferrando Lorenzo, Tanda Enrica Teresa, Spagnolo Francesco, Menin Chiara, Gangemi Rosaria, Massi Daniela, Ghiorzo Pao |
Gene-Level Associations in Patients With and Without Pathogenic Germline Variants in CDKN2A and Pancreatic Cancer. JCO precision oncology 2022 11 6 e2200145. Astiazaran-Symonds Esteban, Graham Cole, Kim Jung, Tucker Margaret A, Ingvar Christian, Helgadottir Hildur, Pastorino Lorenza, van Doorn Remco, Sampson Joshua N, Zhu Bin, Bruno William, Queirolo Paola, Fornarini Giuseppe, Sciallero Stefania, Carter Brian, Hicks Belynda, Hutchinson Amy, Jones Kristine, Stewart Douglas R, Chanock Stephen J, Freedman Neal D, Landi Maria Teresa, Höiom Veronica, Puig Susana, Gruis Nelleke, Yang Xiaohong R, Ghiorzo Paola, Goldstein Alisa |
Impact of High-to-Moderate Penetrance Genes on Genetic Testing: Looking over Breast Cancer. Genes 2023 8 14 (8): . Antonella Turchiano, Marilidia Piglionica, Stefania Martino, Rosanna Bagnulo, Antonella Garganese, Annunziata De Luisi, Stefania Chirulli, Matteo Iacoviello, Michele Stasi, Ornella Tabaku, Eleonora Meneleo, Martina Capurso, Silvia Crocetta, Simone Lattarulo, Yevheniia Krylovska, Patrizia Lastella, Cinzia Forleo, Alessandro Stella, Nenad Bukvic, Cristiano Simone, Nicoletta Res |
Risk of Syndrome-Associated Cancers Among First-Degree Relatives of Patients With Pancreatic Ductal Adenocarcinoma With Pathogenic or Likely Pathogenic Germline Variants. JAMA oncology 2023 5 . Xuan Chen, Margaret A Meyer, Jennifer L Kemppainen, Masayasu Horibe, Shruti Chandra, Shounak Majumder, Gloria M Petersen, Kari G Ra |
Germline genomic findings in children and young adults with melanocytic tumors. Pediatric blood & cancer 2023 4 e30361. Margaret B Nagel, Melissa R Perrino, Regina Nuccio, Alise K Blake, Lynn Harrison, Kim E Nichols, Alberto S Pap |
Whole exome germline sequencing in early-onset prostate cancer patients: Genomic findings and clinical outcomes. The Prostate 2023 10 . Nava Siegelmann-Danieli, Victoria Neiman, Avital Bareket-Samish, Racheli Berger, Asaf Peretz, Hillel Alapi, Erez Tsur, Tal Patalon, Daniella Beller, Galit Rimler, Gabriel Chodick, Mordechai Shoh |
- Page last reviewed:Oct 1, 2023
- Page last updated:Dec 01, 2023
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