Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 36 Records) |
| Query Trace: Neoplasms and MITF[original query] |
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| 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 |
| Germline Variants in Patients Affected by Both Uveal and Cutaneous Melanoma. Pigment cell & melanoma research 2024 9 . Peter A Johansson, Jane M Palmer, Lindsay McGrath, Sunil Warrier, Hayley R Hamilton, Timothy Beckman, Matthew G D'Mellow, Kelly M Brooks, William Glasson, Nicholas K Hayward, Antonia L Pritcha |
| Prevalence of Germline Pathogenic Variants in Renal Cancer Predisposition Genes in a Population-Based Study of Renal Cell Carcinoma. Cancers 2024 9 16 (17): . Fiona Bruinsma, Philip Harraka, Susan Jordan, Daniel J Park, Bernard Pope, Jason Steen, Roger L Milne, Graham G Giles, Ingrid Winship, Katherine M Tucker, Melissa C Southey, Tu Nguyen-Dumo |
| Prevalence of germline variants in Brazilian pancreatic carcinoma patients. Scientific reports 2024 9 14 (1): 21083. Lívia Munhoz Rodrigues, Simone Maistro, Maria Lucia Hirata Katayama, Vinícius Marques Rocha, Rossana Veronica Mendoza Lopez, Edia Filomena di Tullio Lopes, Fernanda Toledo Gonçalves, Cintia Fridman, Pedro Adolpho de Menezes Pacheco Serio, Luciana Rodrigues Carvalho Barros, Luiz Antonio Senna Leite, Vanderlei Segatelli, Maria Del Pilar Estevez-Diz, Rodrigo Santa Cruz Guindalini, Ulysses Ribeiro Junior, Maria Aparecida Azevedo Koike Folguei |
| Prevalence of CDKN2A, CDK4, POT1, BAP1, MITF, ATM, and TERT Pathogenic Variants in a Single-Center Retrospective Series of Patients With Melanoma and Personal or Family History Suggestive of Genetic Predisposition. Dermatology practical & conceptual 2024 8 14 (3): . Giada Ferrara, Salvatore Paiella, Giulio Settanni, Melissa Frizziero, Paolo Rosina, Valeria Viasso |
| Landscape and prognostic significance of oncogene drivers in metastatic castration sensitive prostate cancer. Translational cancer research 2024 12 13 (11): 6235-6245. Theodore Wang, Jongmyung Kim, Ritesh Kumar, Rebecca A Deek, Ryan Stephenson, Tina Mayer, Biren Saraiya, Saum Ghodoussipour, Thomas Jang, David Golombos, Vignesh Packiam, Ronald Ennis, Lara Hathout, Salma K Jabbour, Ozan Guler, Cem Onal, Matthew P De |
| Prevalence and Distribution of Unexpected Actionable Germline Pathogenic Variants Identified on Broad-Based Multigene Panel Testing Among Patients With Cancer. JCO precision oncology 2024 12 8 e2400553. Kara K Landry, Michael J DeSarno, Lindsay Kipnis, Farid Barquet Ramos, Katelyn M Breen, Kaleigh Patton, Audrey Morrissette, Ryan M Buehler, Chinedu Ukaegbu, Mersedeh Rohanizadegan, Matthew B Yurgelun, Sapna Syngal, Huma Q Rana, Judy E Garb |
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