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Select item 88742251.

Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder

Sébastien Küry, Frédéric Ebstein, Alice Mollé, Thomas Besnard, Ming-Kang Lee, Virginie Vignard, Tiphaine Hery, Mathilde Nizon, Grazia M.S. Mancini, Jacques C. Giltay, Benjamin Cogné, Kirsty McWalter, Wallid Deb, Hagar Mor-Shaked, Hong Li, Rhonda E. Schnur, Ingrid M. Wentzensen, Anne-Sophie Denommé-Pichon, Cynthia Fourgeux, Frans W. Verheijen, Eva Faurie, Rachel Schot, Cathy A. Stevens, Daphne J. Smits, Eileen Barr, Ruth Sheffer, Jonathan A. Bernstein, Chandler L. Stimach, Eliana Kovitch, Vandana Shashi, Kelly Schoch, Whitney Smith, Richard H. van Jaarsveld, Anna C.E. Hurst, Kirstin Smith, Evan H. Baugh, Suzanne G. Bohm, Emílie Vyhnálková, Lukáš Ryba, Capucine Delnatte, Juanita Neira, Dominique Bonneau, Annick Toutain, Jill A. Rosenfeld, Undiagnosed Diseases Network, Séverine Audebert-Bellanger, Brigitte Gilbert-Dussardier, Sylvie Odent, Frédéric Laumonnier, Seth I. Berger, Ann C.M. Smith, Franck Bourdeaut, Marc-Henri Stern, Richard Redon, Elke Krüger, Raphaël Margueron, Stéphane Bézieau, Jeremie Poschmann, Bertrand Isidor

Am J Hum Genet. 2022 Feb 3; 109(2): 361–372. Published online 2022 Jan 19. doi: 10.1016/j.ajhg.2021.12.011

PMCID:: PMC8874225

Abstract Article PDF–1.8M

Select item 82019262.

Germline Mutations of Renal Cancer Predisposition Genes and Clinical Relevance in Chinese Patients With Sporadic, Early-Onset Disease

Junlong Wu, Hongkai Wang, Christopher J. Ricketts, Youfeng Yang, Maria J. Merino, Hailiang Zhang, Guohai Shi, Hualei Gan, W. Marston Linehan, Yao Zhu, Dingwei Ye

Cancer. Author manuscript; available in PMC 2021 Jun 14.

Published in final edited form as: Cancer. 2019 Apr 1; 125(7): 1060–1069. Published online 2018 Dec 12. doi: 10.1002/cncr.31908

PMCID:: PMC8201926

Abstract Article PDF–1.3M

Select item 74537453.

A cryptic BAP1 splice mutation in a family with uveal and cutaneous melanoma, and paraganglioma

Karin Wadt, Jiyeon Choi, Joon-Yong Chung, Jens Kiilgaard, Steffen Heegaard, Krzysztof T. Drzewiecki, Jeffrey M. Trent, Stephen M. Hewitt, Nicholas K. Hayward, Anne-Marie Gerdes, Kevin M. Brown

Pigment Cell Melanoma Res. Author manuscript; available in PMC 2020 Aug 28.

Published in final edited form as: Pigment Cell Melanoma Res. 2012 Nov; 25(6): 815–818. Published online 2012 Oct 1. doi: 10.1111/pcmr.12006

PMCID:: PMC7453745

Abstract Article PDF–163K

Select item 71834324.

Whole exome sequencing identifies candidate genes associated with hereditary predisposition to uveal melanoma

Mohamed H. Abdel-Rahman, Klarke M. Sample, Robert Pilarski, Tom Walsh, Timothy Grosel, Daniel Kinnamon, Getachew Boru, James B. Massengill, Lynn Schoenfield, Ben Kelly, David Gordon, Peter Johansson, Meghan J. DeBenedictis, Arun Singh, Silvia Casadei, Frederick H. Davidorf, Peter White, Andrew W. Stacey, James Scarth, Ellie Fewings, Marc Tischkowitz, Mary-Claire King, Nicholas K. Hayward, Colleen M. Cebulla

Ophthalmology. Author manuscript; available in PMC 2021 May 1.

Published in final edited form as: Ophthalmology. 2020 May; 127(5): 668–678. Published online 2019 Nov 18. doi: 10.1016/j.ophtha.2019.11.009

PMCID:: PMC7183432

Abstract Article PDF–619K

Select item 71627375.

A Subset of Mesotheliomas With Improved Survival Occurring in Carriers of BAP1 and Other Germline Mutations

Sandra Pastorino, Yoshie Yoshikawa, Harvey I. Pass, Mitsuru Emi, Masaki Nasu, Ian Pagano, Yasutaka Takinishi, Ryuji Yamamoto, Michael Minaai, Tomoko Hashimoto-Tamaoki, Masaki Ohmuraya, Keisuke Goto, Chandra Goparaju, Kavita Y. Sarin, Mika Tanji, Angela Bononi, Andrea Napolitano, Giovanni Gaudino, Mary Hesdorffer, Haining Yang, Michele Carbone

J Clin Oncol. 2018 Dec 10; 36(35): 3485–3494. Published online 2018 Oct 30. doi: 10.1200/JCO.2018.79.0352

PMCID:: PMC7162737

Abstract Article PDF–1.0M

Select item 70899736.

Concurrent germline and somatic pathogenic BAP1 variants in a patient with metastatic bladder cancer

Megan E. Tesch, Justin A. Pater, Gillian Vandekerkhove, Gang Wang, Kristin Binnington, Alan I. So, Alexander W. Wyatt, Bernhard J. Eigl

NPJ Genom Med. 2020; 5: 12. Published online 2020 Mar 23. doi: 10.1038/s41525-020-0121-8

PMCID:: PMC7089973

Abstract Article PDF–889K

Select item 70740987.

Opposite Roles of BAP1 in Overall Survival of Uveal Melanoma and Cutaneous Melanoma

Feng Liu-Smith, Yunxia Lu

J Clin Med. 2020 Feb; 9(2): 411. Published online 2020 Feb 3. doi: 10.3390/jcm9020411

PMCID:: PMC7074098

Abstract Article PDF–650K

Select item 68048648.

Frequency of Germline Mutations in Cancer Susceptibility Genes in Malignant Mesothelioma

Vasiliki Panou, Meghana Gadiraju, Arthur Wolin, Caroline M. Weipert, Emily Skarda, Aliya N. Husain, Jyoti D. Patel, Buerkley Rose, Shannon R. Zhang, Madison Weatherly, Viswateja Nelakuditi, Amy Knight Johnson, Maria Helgeson, David Fischer, Arpita Desai, Nanna Sulai, Lauren Ritterhouse, Oluf D. Røe, Kiran K. Turaga, Dezheng Huo, Jeremy Segal, Sabah Kadri, Zejuan Li, Hedy L. Kindler, Jane E. Churpek

J Clin Oncol. 2018 Oct 1; 36(28): 2863–2871. Published online 2018 Aug 16. doi: 10.1200/JCO.2018.78.5204

PMCID:: PMC6804864

Abstract Article PDF–709K

Select item 66125719.

Germline large deletion of BAP1 and decreased expression in non-tumor choroid in uveal melanoma patients with high risk for inherited cancer

Getachew Boru, Timothy W. Grosel, Robert Pilarski, Meredith Stautberg, James B. Massengill, Joanne Jeter, Arun Singh, Meghan J. Marino, Joseph P. McElroy, Frederick H. Davidorf, Colleen M. Cebulla, Mohamed H. Abdel-Rahman

Genes Chromosomes Cancer. Author manuscript; available in PMC 2020 Sep 1.

Published in final edited form as: Genes Chromosomes Cancer. 2019 Sep; 58(9): 650–656. Published online 2019 Apr 23. doi: 10.1002/gcc.22752

PMCID:: PMC6612571

Abstract Article PDF–264K

Select item 659018910.

Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non‐CDKN2A/CDK4 melanoma families

Thomas P. Potjer, Sander Bollen, Anneliese J.E.M. Grimbergen, Remco van Doorn, Nelleke A. Gruis, Christi J. van Asperen, Frederik J. Hes, Nienke van der Stoep, on behalf of the Dutch Working Group for Clinical Oncogenetics

Int J Cancer. 2019 May 15; 144(10): 2453–2464. Published online 2019 Jan 21. doi: 10.1002/ijc.31984

PMCID:: PMC6590189

Abstract Article PDF–279K

Select item 658428311.

Prevalence of Germline Mutations in Cancer Susceptibility Genes in Patients With Advanced Renal Cell Carcinoma

Maria I. Carlo, Semanti Mukherjee, Diana Mandelker, Joseph Vijai, Yelena Kemel, Liying Zhang, Andrea Knezevic, Sujata Patil, Ozge Ceyhan-Birsoy, Kuo-Cheng Huang, Almedina Redzematovic, Devyn T. Coskey, Carolyn Stewart, Nisha Pradhan, Angela G. Arnold, A. Ari Hakimi, Ying-Bei Chen, Jonathan A. Coleman, David M. Hyman, Marc Ladanyi, Karen A. Cadoo, Michael F. Walsh, Zsofia K. Stadler, Chung-Han Lee, Darren R. Feldman, Martin H. Voss, Mark Robson, Robert J. Motzer, Kenneth Offit

JAMA Oncol. 2018 Sep; 4(9): 1228–1235. Published online 2018 Jul 5. doi: 10.1001/jamaoncol.2018.1986

PMCID:: PMC6584283

Abstract Article

Select item 650014212.

Inherited predisposition to malignant mesothelioma and overall survival following platinum chemotherapy

Raffit Hassan, Betsy Morrow, Anish Thomas, Tom Walsh, Ming K. Lee, Suleyman Gulsuner, Meghana Gadiraju, Vasiliki Panou, Shaojian Gao, Idrees Mian, Javed Khan, Mark Raffeld, Snehal Patel, Liqiang Xi, Jun S. Wei, Mary Hesdorffer, Jingli Zhang, Kathleen Calzone, Arpita Desai, Emerson Padiernos, Christine Alewine, David S. Schrump, Seth M. Steinberg, Hedy L. Kindler, Mary-Claire King, Jane E. Churpek

Proc Natl Acad Sci U S A. 2019 Apr 30; 116(18): 9008–9013. Published online 2019 Apr 11. doi: 10.1073/pnas.1821510116

PMCID:: PMC6500142

Abstract Article PDF–702K

Select item 644728713.

A novel BAP1 mutation is associated with melanocytic neoplasms and thyroid cancer

Kevin J. McDonnell, Gregory T. Gallanis, Kathleen A. Heller, Marilena Melas, Gregory E. Idos, Julie O. Culver, Sue-Ellen Martin, David H. Peng, Stephen B. Gruber

Cancer Genet. Author manuscript; available in PMC 2019 Apr 3.

Published in final edited form as: Cancer Genet. 2016 Mar; 209(3): 75–81. Published online 2015 Dec 22. doi: 10.1016/j.cancergen.2015.12.007

PMCID:: PMC6447287

Abstract Article PDF–1.0M

Select item 629279614.

Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide

Sebastian Walpole, Antonia L Pritchard, Colleen M Cebulla, Robert Pilarski, Meredith Stautberg, Frederick H Davidorf, Arnaud de la Fouchardière, Odile Cabaret, Lisa Golmard, Dominique Stoppa-Lyonnet, Erin Garfield, Ching-Ni Njauw, Mitchell Cheung, Joni A Turunen, Pauliina Repo, Reetta-Stiina Järvinen, Remco van Doorn, Martine J Jager, Gregorius P M Luyten, Marina Marinkovic, Cindy Chau, Miriam Potrony, Veronica Höiom, Hildur Helgadottir, Lorenza Pastorino, William Bruno, Virginia Andreotti, Bruna Dalmasso, Giulia Ciccarese, Paola Queirolo, Luca Mastracci, Karin Wadt, Jens Folke Kiilgaard, Michael R Speicher, Natasha van Poppelen, Emine Kilic, Rana’a T Al-Jamal, Irma Dianzani, Marta Betti, Carsten Bergmann, Sandro Santagata, Sonika Dahiya, Saleem Taibjee, Jo Burke, Nicola Poplawski, Sally J O’Shea, Julia Newton-Bishop, Julian Adlard, David J Adams, Anne-Marie Lane, Ivana Kim, Sonja Klebe, Hilary Racher, J William Harbour, Michael L Nickerson, Rajmohan Murali, Jane M Palmer, Madeleine Howlie, Judith Symmons, Hayley Hamilton, Sunil Warrier, William Glasson, Peter Johansson, Carla Daniela Robles-Espinoza, Raul Ossio, Annelies de Klein, Susana Puig, Paola Ghiorzo, Maartje Nielsen, Tero T Kivelä, Hensin Tsao, Joseph R Testa, Pedram Gerami, Marc-Henri Stern, Brigitte Bressac-de Paillerets, Mohamed H Abdel-Rahman, Nicholas K Hayward

J Natl Cancer Inst. 2018 Dec; 110(12): 1328–1341. Published online 2018 Dec 4. doi: 10.1093/jnci/djy171

PMCID:: PMC6292796

Abstract Article PDF–973K

Select item 594914715.

Pathogenic germline variants in 10,389 adult cancers

Kuan-lin Huang, R. Jay Mashl, Yige Wu, Deborah I. Ritter, Jiayin Wang, Clara Oh, Marta Paczkowska, Sheila Reynolds, Matthew A. Wyczalkowski, Ninad Oak, Adam D. Scott, Michal Krassowski, Andrew D. Cherniack, Kathleen E. Houlahan, Reyka Jayasinghe, Liang-Bo Wang, Daniel Cui Zhou, Di Liu, Song Cao, Young Won Kim, Amanda Koire, Joshua F. McMichael, Vishwanathan Hucthagowder, Tae-Beom Kim, Abigail Hahn, Chen Wang, Michael D. McLellan, Fahd Al-Mulla, Kimberly J. Johnson, The Cancer Genome Atlas Research Network, Olivier Lichtarge, Paul C. Boutros, Benjamin Raphael, Alexander J. Lazar, Wei Zhang, Michael C. Wendl, Ramaswamy Govindan, Sanjay Jain, David Wheeler, Shashikant Kulkarni, John F. Dipersio, Jüri Reimand, Funda Meric-Bernstam, Ken Chen, Ilya Shmulevich, Sharon E. Plon, Feng Chen, Li Ding

Cell. Author manuscript; available in PMC 2019 Apr 5.

Published in final edited form as: Cell. 2018 Apr 5; 173(2): 355–370.e14. doi: 10.1016/j.cell.2018.03.039

PMCID:: PMC5949147

Abstract Article PDF–1.9M

Select item 571033916.

Genotypic and Phenotypic Features of BAP1 Cancer Syndrome: A Report of 8 New Families and Review of Cases in the Literature

Alexandra M. Haugh, Ching-Ni Njauw, Jeffrey A. Bubley, Anna Elisa Verzì, Bin Zhang, Emily Kudalkar, Timothy VandenBoom, Kara Walton, Brian L. Swick, Raj Kumar, Huma Q. Rana, Sarah Cochrane, Shelley R. McCormick, Christopher R. Shea, Hensin Tsao, Pedram Gerami

JAMA Dermatol. 2017 Oct; 153(10): 999–1006. Prepublished online 2017 Aug 9. Published online 2017 Oct 11. doi: 10.1001/jamadermatol.2017.2330

PMCID:: PMC5710339

Abstract Article

Select item 558119417.

BAP1 regulates IP3R3-mediated Ca²⁺ flux to mitochondria suppressing cell transformation

Angela Bononi, Carlotta Giorgi, Simone Patergnani, David Larson, Kaitlyn Verbruggen, Mika Tanji, Laura Pellegrini, Valentina Signorato, Federica Olivetto, Sandra Pastorino, Masaki Nasu, Andrea Napolitano, Giovanni Gaudino, Paul Morris, Greg Sakamoto, Laura K. Ferris, Alberto Danese, Andrea Raimondi, Carlo Tacchetti, Shafi Kuchay, Harvey I. Pass, El Bachir Affar, Haining Yang, Paolo Pinton, Michele Carbone

Nature. Author manuscript; available in PMC 2017 Dec 14.

Published in final edited form as: Nature. 2017 Jun 22; 546(7659): 549–553. Published online 2017 Jun 14. doi: 10.1038/nature22798

PMCID:: PMC5581194

Abstract Article PDF–1.3M

Select item 549037518.

Germline BAP1 Alterations in Familial Uveal Melanoma

Karan Rai, Robert Pilarski, Getachew Boru, Muneeb Rehman, Ahmad H. Saqr, James B. Massengill, Arun Singh, Meghan J. Marino, Frederick H. Davidorf, Colleen M. Cebulla, Mohamed H. Abdel-Rahman

Genes Chromosomes Cancer. Author manuscript; available in PMC 2018 Feb 1.

Published in final edited form as: Genes Chromosomes Cancer. 2017 Feb; 56(2): 168–174. Published online 2016 Oct 26. doi: 10.1002/gcc.22424

PMCID:: PMC5490375

Abstract Article PDF–88K

Select item 546437119.

Germline and somatic BAP1 mutations in high-grade rhabdoid meningiomas

Ganesh M. Shankar, Malak Abedalthagafi, Rachael A. Vaubel, Parker H. Merrill, Naema Nayyar, Corey M. Gill, Ryan Brewster, Wenya Linda Bi, Pankaj K. Agarwalla, Aaron R. Thorner, David A. Reardon, Ossama Al-Mefty, Patrick Y. Wen, Brian M. Alexander, Paul van Hummelen, Tracy T. Batchelor, Keith L. Ligon, Azra H. Ligon, Matthew Meyerson, Ian F. Dunn, Rameen Beroukhim, David N. Louis, Arie Perry, Scott L. Carter, Caterina Giannini, William T. Curry, Jr, Daniel P. Cahill, Frederick G. Barker, II, Priscilla K. Brastianos, Sandro Santagata

Neuro Oncol. 2017 Apr; 19(4): 535–545. Published online 2016 Nov 9. doi: 10.1093/neuonc/now235

PMCID:: PMC5464371

Abstract Article PDF–37M

Select item 542936020.

The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies

Peter D. Stenson, Matthew Mort, Edward V. Ball, Katy Evans, Matthew Hayden, Sally Heywood, Michelle Hussain, Andrew D. Phillips, David N. Cooper

Hum Genet. 2017; 136(6): 665–677. Published online 2017 Mar 27. doi: 10.1007/s00439-017-1779-6

PMCID:: PMC5429360

Abstract Article PDF–1.1M

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