Publications:

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Clinical sequencing identifies potential actionable alterations in a high rate of urachal and primary bladder adenocarcinomas.

Cancer Medicine

Varadi, Melinda M; Nagy, Nikolett N; Reis, Henning H; Hadaschik, Boris B; Niedworok, Christian C; Modos, Orsolya O; Szendroi, Attila A; Ablat, Jason J; Black, Peter C PC; Keresztes, David D; Csizmarik, Anita A; Olah, Csilla C; Gaisa, Nadine T NT; Kiss, Andras A; Timar, Jozsef J; Toth, Erika E; Csernak, Erzsebet E; Gerstner, Arpad A; Mittal, Vinay V; Karkampouna, Sofia S; Kruithof de Julio, Marianna M; Gyorffy, Balazs B; Bedics, Gabor G; Rink, Michael M; Fisch, Margit M; Nyirady, Peter P; Szarvas, Tibor T

Publication Date: 2023-01-20

Variant appearance in text: NF1: Trp2229Ter

PubMed Link: 36670542

Variant Present in the following documents:

• CAM4-12-9041-s001.xlsx, sheet 1

View BVdb publication page

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Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology

Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W

Publication Date: 2022

Variant appearance in text: NF1: W2229X

PubMed Link: 36072793

Variant Present in the following documents:

• Table_3.xlsx, sheet 1

View BVdb publication page

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Prospective genomically guided identification of "early/evolving" and "undersampled" IDH-wildtype glioblastoma leads to improved clinical outcomes.

Neuro-Oncology

Zhang, Yalan Y; Lucas, Calixto-Hope G CG; Young, Jacob S JS; Morshed, Ramin A RA; McCoy, Lucie L; Oberheim Bush, Nancy Ann NA; Taylor, Jennie W JW; Daras, Mariza M; Butowski, Nicholas A NA; Villanueva-Meyer, Javier E JE; Cha, Soonmee S; Wrensch, Margaret M; Wiencke, John K JK; Lee, Julieann C JC; Pekmezci, Melike M; Phillips, Joanna J JJ; Perry, Arie A; Bollen, Andrew W AW; Aghi, Manish K MK; Theodosopoulos, Philip P; Chang, Edward F EF; Hervey-Jumper, Shawn L SL; Berger, Mitchel S MS; Clarke, Jennifer L JL; Chang, Susan M SM; Molinaro, Annette M AM; Solomon, David A DA

Publication Date: 2022-10-03

Variant appearance in text: NF1: 6686G>A; W2229*

PubMed Link: 35395677

Variant Present in the following documents:

• noac089_suppl_supplementary_tables_s1-s11.xlsx, sheet 5

View BVdb publication page

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Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature

Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E

Publication Date: 2019-11

Variant appearance in text: NF1: Trp2229*

PubMed Link: 31645765

Variant Present in the following documents:

• 41586_2019_1689_MOESM14_ESM.xlsx, sheet 1
• 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Genomic profiling of primary histiocytic sarcoma reveals two molecular subgroups.

Haematologica

Egan, Caoimhe C; Nicolae, Alina A; Lack, Justin J; Chung, Hye-Jung HJ; Skarshaug, Shannon S; Pham, Thu Anh TA; Navarro, Winnifred W; Abdullaev, Zied Z; Aguilera, Nadine S NS; Xi, Liqiang L; Pack, Svetlana S; Pittaluga, Stefania S; Jaffe, Elaine S ES; Raffeld, Mark M

Publication Date: 2020-04

Variant appearance in text: NF1: W2229*

PubMed Link: 31439678

Variant Present in the following documents:

• Main text
• 1050951.pdf

View BVdb publication page

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SETD2 mutations in primary central nervous system tumors.

Acta Neuropathologica Communications

Viaene, Angela N AN; Santi, Mariarita M; Rosenbaum, Jason J; Li, Marilyn M MM; Surrey, Lea F LF; Nasrallah, MacLean P MP

Publication Date: 2018-11-12

Variant appearance in text: NF1: W2229*

PubMed Link: 30419952

Variant Present in the following documents:

• Main text
• 40478_2018_Article_623.pdf

View BVdb publication page

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