Human Genome Epidemiology Literature Finder
Records 1 - 23 (of 23 Records) |
Query Trace: Syndrome and BAP1[original query] |
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BAP1 cancer syndrome: malignant mesothelioma, uveal and cutaneous melanoma, and MBAITs. Journal of translational medicine 2012 Aug 10 (1): 1. Carbone M, Korb Ferris L, Baumann F, Napolitano A, Lum CA, Flores EG, Gaudino G, Powers A, Bryant-Greenwood P, Krausz T, Hyjek E, Tate R, Friedberg J, Weigel T, Pass HI, Yang H |
Germline BAP1 inactivation is preferentially associated with metastatic ocular melanoma and cutaneous-ocular melanoma families. PloS one 2012 7 (4): e35295. Njauw Ching-Ni Jenny, Kim Ivana, Piris Adriano, Gabree Michele, Taylor Michael, Lane Anne Marie, DeAngelis Margaret M, Gragoudas Evangelos, Duncan Lyn M, Tsao Hens |
A novel germline mutation in BAP1 predisposes to familial clear-cell renal cell carcinoma. Molecular cancer research : MCR 2013 Sep 11 (9): 1061-71. Farley Megan N, Schmidt Laura S, Mester Jessica L, Peña-Llopis Samuel, Pavia-Jimenez Andrea, Christie Alana, Vocke Cathy D, Ricketts Christopher J, Peterson James, Middelton Lindsay, Kinch Lisa, Grishin Nick, Merino Maria J, Metwalli Adam R, Xing Chao, Xie Xian-Jin, Dahia Patricia L M, Eng Charis, Linehan W Marston, Brugarolas Jam |
Mesothelioma patients with germline BAP1 mutations have 7-fold improved long-term survival. Carcinogenesis 2015 Jan 36 (1): 76-81. Baumann Francine, Flores Erin, Napolitano Andrea, Kanodia Shreya, Taioli Emanuela, Pass Harvey, Yang Haining, Carbone Miche |
Absence of germline mutations in BAP1 in sporadic cases of malignant mesothelioma. Gene 2015 May 563 (1): 103-5. Sneddon Sophie, Leon Justine S, Dick Ian M, Cadby Gemma, Olsen Nola, Brims Fraser, Allcock Richard J N, Moses Eric K, Melton Phillip E, de Klerk Nicholas, Musk A W Bill, Robinson Bruce W S, Creaney Jenet |
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 |
BAP1 Germline Mutations in Finnish Patients with Uveal Melanoma. Ophthalmology 2016 Feb . Turunen Joni A, Markkinen Salla, Wilska Rosi, Saarinen Silva, Raivio Virpi, Täll Martin, Lehesjoki Anna-Elina, Kivelä Tero |
Germline BAP1 Mutational Landscape of Asbestos-Exposed Malignant Mesothelioma Patients with Family History of Cancer. Cancer research 2015 Dec . Ohar Jill A, Cheung Mitchell, Talarchek Jacqueline, Howard Suzanne E, Howard Timothy D, Hesdorffer Mary, Peng Hongzhuang, Rauscher Frank J, Testa Joseph |
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 |
Malignant Peripheral Nerve Sheath Tumor in a Patient With BAP1 Tumor Predisposition Syndrome. World neurosurgery 2017 10 109 362-364. Kaszuba Megan C, Pulido Jose S, Folpe Andrew L, Pichurin Pavel N, Goodenberger McKinsey L, Spinner Robert |
Analysis of the exome aggregation consortium (ExAC) database suggests that the BAP1-tumor predisposition syndrome is underreported in cancer patients. Genes, chromosomes & cancer 2018 May . Massengill James B, Sample Klarke M, Pilarski Robert, McElroy Joseph, Davidorf Frederick H, Cebulla Colleen M, Abdel-Rahman Mohamed |
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 |
Clinical Implications of Real-time Integrative Sequencing in Management of Patients With Suspected Germline BAP1 Mutations. Journal of pediatric hematology/oncology 2018 3 41 (4): e263-e265. Sengupta Shayan, Weyand Angela C, Upadhyaya Santhosh A, Wu Yi-Mi, Robinson Dan R, Mody Rajen |
Comparison of Germline versus Somatic BAP1 Mutations for Risk of Metastasis in Uveal Melanoma. BMC cancer 2018 11 18 (1): 1172. Ewens K G, Lalonde E, Richards-Yutz J, Shields C L, Ganguly |
Population-based analysis of BAP1 germline variations in patients with uveal melanoma. Human molecular genetics 2019 5 28 (14): 2415-2426. Repo Pauliina, Järvinen Reetta-Stiina, Jäntti Johannes E, Markkinen Salla, Täll Martin, Raivio Virpi, Turunen Joni A, Kivelä Tero |
Growth Rates of Genetically Defined Renal Tumors: Implications for Active Surveillance and Intervention. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2020 2 38 (11): 1146-1153. Ball Mark W, An Julie Y, Gomella Patrick T, Gautam Rabindra, Ricketts Christopher J, Vocke Cathy D, Schmidt Laura S, Merino Maria J, Srinivasan Ramaprasad, Malayeri Ashkan A, Metwalli Adam R, Linehan W Marst |
Uveal Melanoma in BAP1 Tumor Predisposition Syndrome: Estimation of Risk. American journal of ophthalmology 2020 12 224 172-177. Singh Nakul, Singh Rahul, Bowen Randy Chris, Abdel-Rahman Mohamed H, Singh Arun |
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 |
Germ Line BAP1 Mutation in Patients with Uveal Melanoma and Renal Cell Carcinoma. Ocular oncology and pathology 2021 11 7 (5): 340-345. Shao Yusra F, DeBenedictis Meghan, Yeaney Gabrielle, Singh Arun |
Analysis of uveal melanomas and paired constitutional DNA for exclusion of a BAP1-tumor predisposition syndrome. Familial cancer 2022 8 . Abbassi Yasaman Arjmand, Le Guin Claudia, Bornfeld Norbert, Bechrakis Nikolaos E, Zeschnigk Michael, Lohmann Dietmar |
Canonical and uncanonical pathogenic germline variants in colorectal cancer patients by next-generation sequencing in a European referral center. ESMO open 2022 11 7 (6): 100607. Poliani L, Greco L, Barile M, Dal Buono A, Bianchi P, Basso G, Giatti V, Genuardi M, Malesci A, Laghi L, |
Genomic profiles of renal cell carcinoma in a small Chinese cohort. Frontiers in oncology 2023 7 13 1095775. Sheng Tai, Dan-Dan Xu, Zhixian Yu, Yu Guan, Shuiping Yin, Jun Xiao, Song Xue, Chaozhao Lia |
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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