Access the full text.
Sign up today, get DeepDyve free for 14 days.
Sue Richards, Nazneen Aziz, S. Bale, D. Bick, Soma Das, J. Gastier-Foster, W. Grody, M. Hegde, E. Lyon, E. Spector, K. Voelkerding, H. Rehm (2015)
Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular PathologyGenetics in medicine : official journal of the American College of Medical Genetics, 17
P. Repo, Reetta-Stiina Järvinen, Johannes Jäntti, S. Markkinen, M. Täll, V. Raivio, J. Turunen, T. Kivelä (2019)
Population-based analysis of BAP1 germline variations in patients with uveal melanoma.Human molecular genetics
D. Jensen, M. Proctor, S. Marquis, H. Gardner, S. Ha, L. Chodosh, A. Ishov, N. Tommerup, H. Vissing, Y. Sekido, J. Minna, A. Borodovsky, D. Schultz, K. Wilkinson, G. Maul, N. Barlev, S. Berger, G. Prendergast, F. Rauscher (1998)
BAP1: a novel ubiquitin hydrolase which binds to the BRCA1 RING finger and enhances BRCA1-mediated cell growth suppressionOncogene, 16
S. Küry, F. Ebstein, Alice Molle, T. Besnard, Ming-Kang Lee, V. Vignard, Tiphaine Héry, M. Nizon, G. Mancini, J. Giltay, B. Cogné, K. McWalter, W. Deb, Hagar Mor-Shaked, Hong Li, R. Schnur, I. Wentzensen, A. Denommé-Pichon, C. Fourgeux, F. Verheijen, Eva Faurie, R. Schot, C. Stevens, Daphne Smits, E. Barr, R. Sheffer, J. Bernstein, C. Stimach, Eliana Kovitch, V. Shashi, K. Schoch, Whitney Smith, R. Jaarsveld, A. Hurst, Kirstin Smith, E. Baugh, Suzanne Bohm, E. Vyhnálková, Lukasz Ryba, Capucine Delnatte, J. Neira, D. Bonneau, A. Toutain, J. Rosenfeld, S. Audebert‐Bellanger, B. Gilbert-Dussardier, S. Odent, F. Laumonnier, Seth Berger, Ann Smith, F. Bourdeaut, M. Stern, R. Redon, E. Krüger, R. Margueron, S. Bézieau, J. Poschmann, B. Isidor (2022)
Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.American journal of human genetics
J. Meerbeeck, G. Hillerdal (2008)
Screening for mesothelioma: more harm than good?American journal of respiratory and critical care medicine, 178 8
Ziad Eletr, K. Wilkinson (2011)
An Emerging Model for BAP1’s Role in Regulating Cell Cycle ProgressionCell Biochemistry and Biophysics, 60
M. Abdel-Rahman, R. Pilarski, C. Cebulla, J. Massengill, B. Christopher, G. Boru, P. Hovland, F. Davidorf (2011)
Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancersJournal of Medical Genetics, 48
(2016)
The genetics of uveal melanoma: current insights, 9
Helen Yu, N. Mashtalir, Salima Daou, Ian Hammond-Martel, Julie Ross, Guangchao Sui, G. Hart, F. Rauscher, E. Drobetsky, E. Milot, Yang Shi, E. Affar (2010)
The Ubiquitin Carboxyl Hydrolase BAP1 Forms a Ternary Complex with YY1 and HCF-1 and Is a Critical Regulator of Gene ExpressionMolecular and Cellular Biology, 30
T. Essen, Sake Pelt, M. Versluis, Inge Bronkhorst, S. Duinen, M. Marinkovic, W. Kroes, C. Ruivenkamp, S. Shukla, A. Klein, E. Kiliç, J. Harbour, G. Luyten, P. Velden, R. Verdijk, M. Jager (2014)
Prognostic parameters in uveal melanoma and their association with BAP1 expressionBritish Journal of Ophthalmology, 98
S. O'Shea, C. Robles‐Espinoza, C. Robles‐Espinoza, Lauren McLellan, J. Harrigan, X. Jacq, J. Hewinson, V. Iyer, W. Merchant, F. Elliott, M. Harland, D. Bishop, J. Newton-Bishop, D. Adams (2017)
A population-based analysis of germline BAP1 mutations in melanomaHuman Molecular Genetics, 26
V. Höiom, D. Edsgärd, H. Helgadottir, H. Eriksson, C. All‐Ericsson, Rainer Tuominen, Ivayla Ivanova, J. Lundeberg, O. Emanuelsson, J. Hansson (2013)
Hereditary uveal melanoma: A report of a germline mutation in BAP1Genes, 52
J. Testa, M. Cheung, J. Pei, J. Below, Yinfei Tan, Eleonora Sementino, N. Cox, A. Dogan, A. Dogan, H. Pass, Sandra Trusa, M. Hesdorffer, Masaki Nasu, A. Powers, Zeyana Rivera, S. Comertpay, M. Tanji, G. Gaudino, Haining Yang, M. Carbone (2011)
Germline BAP1 mutations predispose to malignant mesotheliomaNature genetics, 43
J. Ohar, M. Cheung, Jacqueline Talarchek, S. Howard, T. Howard, M. Hesdorffer, Hongzhuang Peng, F. Rauscher, J. Testa (2016)
Germline BAP1 Mutational Landscape of Asbestos-Exposed Malignant Mesothelioma Patients with Family History of Cancer.Cancer research, 76 2
T. Potjer, Sander Bollen, Anneliese Grimbergen, R. Doorn, N. Gruis, C. Asperen, F. Hes, N. Stoep (2019)
Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non‐CDKN2A/CDK4 melanoma familiesInternational Journal of Cancer, 144
L. Aoude, M. Gartside, P. Johansson, J. Palmer, J. Symmons, N. Martin, G. Montgomery, N. Hayward (2015)
Prevalence of Germline BAP1, CDKN2A, and CDK4 Mutations in an Australian Population-Based Sample of Cutaneous Melanoma CasesTwin Research and Human Genetics, 18
H. Helgadottir, V. Höiom
The Application of Clinical Genetics Dovepress the Genetics of Uveal Melanoma: Current Insights
C. Luchini, N. Veronese, S. Yachida, Liang Cheng, A. Nottegar, B. Stubbs, M. Solmi, P. Capelli, A. Pea, M. Barbareschi, M. Fassan, L. Wood, A. Scarpa (2016)
Different prognostic roles of tumor suppressor gene BAP1 in cancer: A systematic review with meta‐analysisGenes, 55
Z. Ji, Hisham Mohammed, Aaron Webber, J. Ridsdale, N. Han, J. Carroll, A. Sharrocks (2014)
The forkhead transcription factor FOXK2 acts as a chromatin targeting factor for the BAP1-containing histone deubiquitinase complexNucleic Acids Research, 42
Sebastian Walpole, Sebastian Walpole, A. Pritchard, A. Pritchard, C. Cebulla, R. Pilarski, Meredith Stautberg, F. Davidorf, A. Fouchardière, O. Cabaret, L. Golmard, D. Stoppa-Lyonnet, D. Stoppa-Lyonnet, D. Stoppa-Lyonnet, E. Garfield, C. Njauw, M. Cheung, J. Turunen, P. Repo, Reetta-Stiina Järvinen, R. Doorn, M. Jager, G. Luyten, M. Marinkovic, C. Chau, M. Potrony, M. Potrony, V. Höiom, H. Helgadottir, L. Pastorino, W. Bruno, V. Andreotti, B. Dalmasso, G. Ciccarese, P. Queirolo, L. Mastracci, K. Wadt, J. Kiilgaard, M. Speicher, N. Poppelen, E. Kiliç, Rana’a Al-Jamal, I. Dianzani, M. Betti, C. Bergmann, S. Santagata, S. Dahiya, S. Taibjee, J. Burke, N. Poplawski, N. Poplawski, S. O'Shea, J. Newton-Bishop, J. Adlard, D. Adams, A. Lane, Ivana Kim, S. Klebe, Hilary Racher, J. Harbour, M. Nickerson, R. Murali, J. Palmer, M. Howlie, J. Symmons, Hayley Hamilton, S. Warrier, W. Glasson, P. Johansson, C. Robles‐Espinoza, C. Robles‐Espinoza, Raul Ossio, A. Klein, S. Puig, S. Puig, P. Ghiorzo, M. Nielsen, T. Kivelä, H. Tsao, J. Testa, P. Gerami, P. Gerami, M. Stern, M. Stern, B. Paillerets, M. Abdel-Rahman, N. Hayward (2018)
Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families WorldwideJNCI: Journal of the National Cancer Institute, 110
T. Wiesner, A. Obenauf, R. Murali, I. Fried, K. Griewank, Peter Ulz, C. Windpassinger, W. Wackernagel, Shea Loy, I. Wolf, A. Viale, A. Lash, Mono Pirun, N. Socci, A. Rütten, G. Palmedo, D. Abramson, K. Offit, A. Ott, J. Becker, L. Cerroni, H. Kutzner, B. Bastian, M. Speicher (2011)
Germline mutations in BAP1 predispose to melanocytic tumorsNature genetics, 43
Helen Yu, Helen Pak, Ian Hammond-Martel, Mehdi Ghram, Amélie Rodrigue, Salima Daou, Haithem Barbour, Luc Corbeil, J. Hébert, E. Drobetsky, J. Masson, J. Noia, E. Affar (2013)
Tumor suppressor and deubiquitinase BAP1 promotes DNA double-strand break repairProceedings of the National Academy of Sciences, 111
C. Njauw, Ivana Kim, A. Piris, M. Gabree, Michael Taylor, A. Lane, M. DeAngelis, E. Gragoudas, L. Duncan, H. Tsao (2012)
Germline BAP1 Inactivation Is Preferentially Associated with Metastatic Ocular Melanoma and Cutaneous-Ocular Melanoma FamiliesPLoS ONE, 7
M. Doño, G. Angelini, M. Cecconi, A. Amaro, A. Esposito, V. Mirisola, I. Marić, F. Lanza, F. Nasciuti, S. Viaggi, M. Gualco, R. Bandelloni, M. Truini, D. Coviello, S. Zupo, C. Mosci, Ulrich Pfeffer (2014)
Mutation frequencies of GNAQ, GNA11, BAP1, SF3B1, EIF1AX and TERT in uveal melanoma: detection of an activating mutation in the TERT gene promoter in a single case of uveal melanomaBritish Journal of Cancer, 110
Dinusha Pandithan, S. Klebe, G. McKavanagh, L. Rawlings, Sui Yu, J. Nicholl, N. Poplawski (2022)
BAP1 Tumour Predisposition Syndrome Due to Whole BAP1 Gene DeletionCase Reports in Genetics, 2022
P. Repo, A. Staskiewicz, E. Sutinen, M. Rönty, T. Kivelä, M. Myllärniemi, J. Turunen (2022)
BAP1 germline variants in Finnish patients with malignant mesothelioma.Lung cancer, 165
O. Yélamos, C. Navarrete-Dechent, M. Marchetti, T. Rogers, Z. Apalla, P. Bahadoran, N. Blázquez-Sánchez, K. Busam, C. Carrera, S. Dusza, A. Fouchardière, G. Ferrara, P. Gerami, H. Kittler, A. Lallas, J. Malvehy, J. Millán-Cayetano, K. Nelson, V. Quan, S. Puig, H. Stevens, L. Thomas, A. Marghoob (2019)
Clinical and dermoscopic features of cutaneous BAP1-inactivated melanocytic tumors: Results of a multicenter case-control study by the International Dermoscopy Society.Journal of the American Academy of Dermatology, 80 6
L. Aoude, K. Wadt, A. Bojesen, D. Crüger, Å. Borg, J. Trent, K. Brown, A. Gerdes, G. Jönsson, N. Hayward (2013)
A BAP1 Mutation in a Danish Family Predisposes to Uveal Melanoma and Other CancersPLoS ONE, 8
J. Harbour, M. Onken, E. Roberson, Shenghui Duan, Li Cao, Lori Worley, M. Council, K. Matatall, C. Helms, A. Bowcock (2010)
Frequent Mutation of BAP1 in Metastasizing Uveal MelanomasScience, 330
(2022)
Swedish national guidlines familial melanoma. RCC
K. Wadt, L. Aoude, L. Krogh, L. Sunde, A. Bojesen, K. Grønskov, Nine Wartacz, J. Ek, Morten Tolstrup-Andersen, Mette Klarskov-Andersen, Å. Borg, S. Heegaard, J. Kiilgaard, T. Hansen, K. Klein, G. Jönsson, K. Drzewiecki, M. Duno, N. Hayward, A. Gerdes (2015)
Molecular Characterization of Melanoma Cases in Denmark Suspected of Genetic PredispositionPLoS ONE, 10
Maria Pissa, Teo Helkkula, Frida Appelqvist, Gustav Silander, Å. Borg, J. Pettersson, J. Lapins, K. Nielsen, V. Höiom, H. Helgadottir (2021)
CDKN2A genetic testing in melanoma-prone families in Sweden in the years 2015–2020: implications for novel national recommendationsActa Oncologica, 60
ACTA ONCOLOGICA https://doi.org/10.1080/0284186X.2023.2216338 LETTER TO THE EDITOR a,b a,b c,d e f Hildur Helgadottir , Karina Schultz , Jan Lapins , Ismini Vassilaki , Charlotta All-Eriksson and a,b Veronica Hoiom a b Department of Oncology and Pathology, Karolinska Institutet, Stockholm, Sweden; Theme Cancer, Karolinska University Hospital, c d Stockholm, Sweden; Department of Dermatology, Karolinska University Hospital, Stockholm, Sweden; Dermatology and Venereology Unit, Department of Medicine, Karolinska Institutet, Stockholm, Sweden; Department of Pathology, Karolinska University Hospital, Stockholm, Sweden; Department of Ophthalmology, Sahlgrenska University Hospital, Gothenburg, Sweden ARTICLE HISTORY Received 20 March 2023; Accepted 16 May 2023 Background Material and methods The BRCA1-associated protein-1 (BAP1) gene has in the Patients and families recent years been identified as a critical driver gene in the After the identification of the first family in Sweden with a pathogenesis of many tumors [1,2]. The BAP1 gene is located BAP1 PV in 2012, germline sequencing of the BAP1 gene has on chromosome 3 (3p21.31-p21.2), where its 17 exons tran- been offered to families presenting with BAP1 core tumors. scribe into the 729 amino acids long BAP1 protein [3]. BAP1 Essentially, this has been performed in families with CM in has been categorized as a tumor suppressor,
Acta Oncologica – Taylor & Francis
Published: Jun 3, 2023
Read and print from thousands of top scholarly journals.
Already have an account? Log in
Bookmark this article. You can see your Bookmarks on your DeepDyve Library.
To save an article, log in first, or sign up for a DeepDyve account if you don’t already have one.
Copy and paste the desired citation format or use the link below to download a file formatted for EndNote
Access the full text.
Sign up today, get DeepDyve free for 14 days.
All DeepDyve websites use cookies to improve your online experience. They were placed on your computer when you launched this website. You can change your cookie settings through your browser.