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Select item 116818411.

Germline Variants in Patients Affected by Both Uveal and Cutaneous Melanoma

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. Pritchard

Pigment Cell Melanoma Res. 2025 Jan; 38(1): e13199. Published online 2024 Sep 24. doi: 10.1111/pcmr.13199

PMCID:: PMC11681841

Article PDF–628K

Select item 111826302.

Intrinsic disorder may drive the interaction of PROS1 and MERTK in uveal melanoma

Mak Djulbegovic, David J. Taylor Gonzalez, Michael Antonietti, Vladimir N. Uversky, Carol L Shields, Carol L Karp

Int J Biol Macromol. Author manuscript; available in PMC 2024 Oct 1.

Published in final edited form as: Int J Biol Macromol. 2023 Oct 1; 250: 126027. Published online 2023 Jul 26. doi: 10.1016/j.ijbiomac.2023.126027

PMCID:: PMC11182630

Article PDF–2.1M

Select item 110214753.

Uveal melanoma immunogenomics predict immunotherapy resistance and susceptibility

Shravan Leonard-Murali, Chetana Bhaskarla, Ghanshyam S. Yadav, Sudeep K. Maurya, Chenna R. Galiveti, Joshua A. Tobin, Rachel J. Kann, Eishan Ashwat, Patrick S. Murphy, Anish B. Chakka, Vishal Soman, Paul G. Cantalupo, Xinming Zhuo, Gopi Vyas, Dara L. Kozak, Lindsey M. Kelly, Ed Smith, Uma R. Chandran, Yen-Michael S. Hsu, Udai S. Kammula

Nat Commun. 2024; 15: 2863. Published online 2024 Apr 16. doi: 10.1038/s41467-024-46906-4

PMCID:: PMC11021475

Article PDF–6.4M

Select item 108774624.

Functional assay for assessment of pathogenicity of BAP1 variants

Pauliina E Repo, Michael P Backlund, Tero T Kivelä, Joni A Turunen

Hum Mol Genet. 2024 Mar 1; 33(5): 426–434. Published online 2023 Nov 13. doi: 10.1093/hmg/ddad193

PMCID:: PMC10877462

Article PDF–1.1M

Select item 107635305.

Combined Inhibition of EZH2 and FGFR is Synergistic in BAP1-deficient Malignant Mesothelioma

Jitendra Badhai, Nick Landman, Gaurav Kumar Pandey, Ji-Ying Song, Danielle Hulsman, Oscar Krijgsman, Gayathri Chandrasekaran, Anton Berns, Maarten van Lohuizen

Cancer Res Commun. 2024 Jan; 4(1): 18–27. Published online 2024 Jan 3. doi: 10.1158/2767-9764.CRC-23-0276

PMCID:: PMC10763530

Article PDF–4.1M

Select item 107326476.

Driver mutations in GNAQ and GNA11 genes as potential targets for precision immunotherapy in uveal melanoma patients

Sandra García-Mulero, Roberto Fornelino, Marco Punta, Stefano Lise, Mar Varela, Luis P. del Carpio, Rafael Moreno, Marcel Costa-García, Dietmar Rieder, Zlatko Trajanoski, Alena Gros, Ramón Alemany, Josep María Piulats, Rebeca Sanz-Pamplona

Oncoimmunology. 2023; 12(1): 2261278. Published online 2023 Oct 24. doi: 10.1080/2162402X.2023.2261278

PMCID:: PMC10732647

Article PDF–5.0M

Select item 106201327.

Clinical practice guidelines for the diagnosis and surveillance of BAP1 tumour predisposition syndrome

Fiona Lalloo, Anju Kulkarni, Cindy Chau, Maartje Nielsen, Michael Sheaff, Jeremy Steele, Remco van Doorn, Karin Wadt, Monica Hamill, Beth Torr, Marc Tischkowitz, Delphi respondents, Helen Hanson

Eur J Hum Genet. 2023 Nov; 31(11): 1261–1269. Published online 2023 Aug 22. doi: 10.1038/s41431-023-01448-z

PMCID:: PMC10620132

Article PDF–576K

Select item 102645468.

Two unique BAP1 pathogenic variants identified in the same family by panel cascade testing

Lindsey Byrne, Cana Ingalls, Aliya Ansari, Cassie Porteus, Talia R. Donenberg, Daniel A. Sussman, Colleen M. Cebulla, Mohamed H. Abdel-Rahman

Fam Cancer. Author manuscript; available in PMC 2024 Jul 1.

Published in final edited form as: Fam Cancer. 2023 Jul; 22(3): 307–311. Published online 2022 Dec 14. doi: 10.1007/s10689-022-00321-0

PMCID:: PMC10264546

Article PDF–383K

Select item 100896879.

BAP1 tumor predisposition syndrome presenting as a recurrent ovarian sex cord stromal tumor

Benjamin B. Albright, Elizabeth Wignall, Rex C. Bentley, Laura J. Havrilesky, Rebecca A. Previs, Kyle C. Strickland

Int J Gynecol Pathol. Author manuscript; available in PMC 2024 Jan 1.

Published in final edited form as: Int J Gynecol Pathol. 2023 Jan 1; 42(1): 83–88. Published online 2022 May 20. doi: 10.1097/PGP.0000000000000855

PMCID:: PMC10089687

Article PDF–791K

Select item 965824210.

Impact of TMPRSS2 Expression, Mutation Prognostics, and Small Molecule (CD, AD, TQ, and TQFL12) Inhibition on Pan-Cancer Tumors and Susceptibility to SARS-CoV-2

Jiewen Fu, Shuguang Liu, Qi Tan, Zhiying Liu, Jie Qian, Ting Li, Jiaman Du, Binghui Song, Dabing Li, Lianmei Zhang, Jiayue He, Kan Guo, Baixu Zhou, Hanchun Chen, Shangyi Fu, Xiaoyan Liu, Jingliang Cheng, Tao He, Junjiang Fu

Molecules. 2022 Nov; 27(21): 7413. Published online 2022 Nov 1. doi: 10.3390/molecules27217413

PMCID:: PMC9658242

Article PDF–3.4M

Select item 923841311.

Development and Validation of a Novel Ferroptosis-Related LncRNA Signature for Predicting Prognosis and the Immune Landscape Features in Uveal Melanoma

Xiaochen Ma, Sejie Yu, Bin Zhao, Wei Bai, Yubo Cui, Jinglan Ni, Qinghua Lyu, Jun Zhao

Front Immunol. 2022; 13: 922315. Published online 2022 Jun 14. doi: 10.3389/fimmu.2022.922315

PMCID:: PMC9238413

Article PDF–12M

Select item 913032412.

iUMRG: multi-layered network-guided propagation modeling for the inference of susceptibility genes and potential drugs against uveal melanoma

Yueping Ren, Congcong Yan, Lili Wu, Jingting Zhao, Mingwei Chen, Meng Zhou, Xiaoyan Wang, Tonghua Liu, Quanyong Yi, Jie Sun

NPJ Syst Biol Appl. 2022; 8: 18. Published online 2022 May 24. doi: 10.1038/s41540-022-00227-8

PMCID:: PMC9130324

Article PDF–10M

Select item 911811213.

Germline MBD4 deficiency causes a multi-tumor predisposition syndrome

Claire Palles, Hannah D. West, Edward Chew, Sara Galavotti, Christoffer Flensburg, Judith E. Grolleman, Erik A.M. Jansen, Helen Curley, Laura Chegwidden, Edward H. Arbe-Barnes, Nicola Lander, Rebekah Truscott, Judith Pagan, Ashish Bajel, Kitty Sherwood, Lynn Martin, Huw Thomas, Demetra Georgiou, Florentia Fostira, Yael Goldberg, David J. Adams, Simone A.M. van der Biezen, Michael Christie, Mark Clendenning, Laura E. Thomas, Constantinos Deltas, Aleksandar J. Dimovski, Dagmara Dymerska, Jan Lubinski, Khalid Mahmood, Rachel S. van der Post, Mathijs Sanders, Jürgen Weitz, Jenny C. Taylor, Clare Turnbull, Lilian Vreede, Tom van Wezel, Celina Whalley, Claudia Arnedo-Pac, Giulio Caravagna, William Cross, Daniel Chubb, Anna Frangou, Andreas J. Gruber, Ben Kinnersley, Boris Noyvert, David Church, Trevor Graham, Richard Houlston, Nuria Lopez-Bigas, Andrea Sottoriva, David Wedge, Genomics England Research Consortium, The CORGI Consortium, WGS500 Consortium, Mark A. Jenkins, Roland P. Kuiper, Andrew W. Roberts, Jeremy P. Cheadle, Marjolijn J.L. Ligtenberg, Nicoline Hoogerbrugge, Viktor H. Koelzer, Andres Dacal Rivas, Ingrid M. Winship, Clara Ruiz Ponte, Daniel D. Buchanan, Derek G. Power, Andrew Green, Ian P.M. Tomlinson, Julian R. Sampson, Ian J. Majewski, Richarda M. de Voer

Am J Hum Genet. 2022 May 5; 109(5): 953–960. Published online 2022 Apr 22. doi: 10.1016/j.ajhg.2022.03.018

PMCID:: PMC9118112

Article PDF–1.0M

Select item 859017014.

Assessment of Risk of Hereditary Predisposition in Patients With Melanoma and/or Mesothelioma and Renal Neoplasia

Sounak Gupta, Lori A. Erickson, Christine M. Lohse, Wei Shen, Beth A. Pitel, Shannon M. Knight, Kevin C. Halling, Loren Herrera-Hernandez, Stephen A. Boorjian, R. Houston Thompson, Bradley C. Leibovich, Rafael E. Jimenez, John C. Cheville

JAMA Netw Open. 2021 Nov; 4(11): e2132615. Published online 2021 Nov 12. doi: 10.1001/jamanetworkopen.2021.32615

PMCID:: PMC8590170

Article

Select item 825775315.

Atypical Choroidal Nevus in a Subject with a Germline PALB2 Pathogenic Variant

Timothy W. Grosel, Matthew Karl, Robert T. Pilarski, Frederick H. Davidorf, Mohamed H. Abdel-Rahman, Colleen M. Cebulla

Fam Cancer. Author manuscript; available in PMC 2023 Jan 1.

Published in final edited form as: Fam Cancer. 2022 Jan; 21(1): 1–5. Published online 2021 Jan 6. doi: 10.1007/s10689-020-00220-2

PMCID:: PMC8257753

Article PDF–211K

Select item 809181316.

BAP1 promotes viability and migration of ECA109 cells through KLF5/CyclinD1/FGF‐BP1

Fengyun Wang, Ming Luo, Honglan Qu, Yufeng Cheng

FEBS Open Bio. 2021 May; 11(5): 1497–1503. Published online 2021 Mar 28. doi: 10.1002/2211-5463.13105

Correction in:: FEBS Open Bio. 2021 Nov; 11(11): 3171.

PMCID:: PMC8091813

Article PDF–948K

Select item 805910617.

Uveal Melanoma in BAP1 Tumor Predisposition Syndrome: Estimation of Risk

NAKUL SINGH, RAHUL SINGH, RANDY CHRIS BOWEN, MOHAMED H. ABDEL-RAHMAN, ARUN D. SINGH

Am J Ophthalmol. Author manuscript; available in PMC 2022 Apr 1.

Published in final edited form as: Am J Ophthalmol. 2020 Dec 11; 224: 172–177. Published online 2020 Dec 11. doi: 10.1016/j.ajo.2020.12.005

PMCID:: PMC8059106

Article PDF–261K

Select item 802478118.

Targeting the YAP/TAZ Pathway in Uveal and Conjunctival Melanoma With Verteporfin

Niels J. Brouwer, Eleni K. Konstantinou, Evangelos S. Gragoudas, Marina Marinkovic, Gregorius P. M. Luyten, Ivana K. Kim, Martine J. Jager, Demetrios G. Vavvas

Invest Ophthalmol Vis Sci. 2021 Apr; 62(4): 3. Published online 2021 Apr 2. doi: 10.1167/iovs.62.4.3

PMCID:: PMC8024781

Article PDF–1.0M

Select item 779568719.

Genetics of Ocular Melanoma: Insights into Genetics, Inheritance and Testing

Natasha M. van Poppelen, Daniël P. de Bruyn, Tolga Bicer, Rob Verdijk, Nicole Naus, Hanneke Mensink, Dion Paridaens, Annelies de Klein, Erwin Brosens, Emine Kiliҫ

Int J Mol Sci. 2021 Jan; 22(1): 336. Published online 2020 Dec 30. doi: 10.3390/ijms22010336

PMCID:: PMC7795687

Article PDF–3.2M

Select item 778144720.

Germline MBD4 Mutations and Predisposition to Uveal Melanoma

Anne-Céline Derrien, Manuel Rodrigues, Alexandre Eeckhoutte, Stéphane Dayot, Alexandre Houy, Lenha Mobuchon, Sophie Gardrat, Delphine Lequin, Stelly Ballet, Gaëlle Pierron, Samar Alsafadi, Odette Mariani, Ahmed El-Marjou, Alexandre Matet, Chrystelle Colas, Nathalie Cassoux, Marc-Henri Stern

J Natl Cancer Inst. 2021 Jan; 113(1): 80–87. Published online 2020 Apr 1. doi: 10.1093/jnci/djaa047

PMCID:: PMC7781447

Article PDF–1.4M

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