Publications:

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Rb Tumor Suppressor in Small Cell Lung Cancer: Combined Genomic and IHC Analysis with a Description of a Distinct Rb-Proficient Subset.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Febres-Aldana, Christopher A CA; Chang, Jason C JC; Ptashkin, Ryan R; Wang, Yuhan Y; Gedvilaite, Erika E; Baine, Marina K MK; Travis, William D WD; Ventura, Katia K; Bodd, Francis F; Yu, Helena A HA; Quintanal-Villalonga, Alvaro A; Lai, W Victoria WV; Egger, Jacklynn V JV; Offin, Michael M; Ladanyi, Marc M; Rudin, Charles M CM; Rekhtman, Natasha N

Publication Date: 2022-11-01

Variant appearance in text: RB1: 2548C>T; Q850*

PubMed Link: 35792876

Variant Present in the following documents:

• ccr-22-1115_supplementary_tables_1_suppts1.xlsx, sheet 6

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Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.

Nature Communications

Gounder, Mrinal M MM; Agaram, Narasimhan P NP; Trabucco, Sally E SE; Robinson, Victoria V; Ferraro, Richard A RA; Millis, Sherri Z SZ; Krishnan, Anita A; Lee, Jessica J; Attia, Steven S; Abida, Wassim W; Drilon, Alexander A; Chi, Ping P; Angelo, Sandra P D' SP; Dickson, Mark A MA; Keohan, Mary Lou ML; Kelly, Ciara M CM; Agulnik, Mark M; Chawla, Sant P SP; Choy, Edwin E; Chugh, Rashmi R; Meyer, Christian F CF; Myer, Parvathi A PA; Moore, Jessica L JL; Okimoto, Ross A RA; Pollock, Raphael E RE; Ravi, Vinod V; Singh, Arun S AS; Somaiah, Neeta N; Wagner, Andrew J AJ; Healey, John H JH; Frampton, Garrett M GM; Venstrom, Jeffrey M JM; Ross, Jeffrey S JS; Ladanyi, Marc M; Singer, Samuel S; Brennan, Murray F MF; Schwartz, Gary K GK; Lazar, Alexander J AJ; Thomas, David M DM; Maki, Robert G RG; Tap, William D WD; Ali, Siraj M SM; Jin, Dexter X DX

Publication Date: 2022-06-15

Variant appearance in text: RB1: Q850*

PubMed Link: 35705558

Variant Present in the following documents:

• 41467_2022_30496_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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Clinical and genomic features of Chinese lung cancer patients with germline mutations.

Nature Communications

Peng, Wenying W; Li, Bin B; Li, Jin J; Chang, Lianpeng L; Bai, Jing J; Yi, Yuting Y; Chen, Rongrong R; Zhang, Yanyan Y; Chen, Chen C; Pu, Xingxiang X; Jiang, Meilin M; Li, Jia J; Zhong, Rui R; Xu, Fang F; Chen, Bolin B; Xu, Li L; Wang, Ning N; Huan, Jiaojiao J; Dai, Pingping P; Guan, Yanfang Y; Yang, Ling L; Xia, Xuefeng X; Yi, Xin X; Wang, Jiayin J; Yu, Fenglei F; Wu, Lin L

Publication Date: 2022-03-10

Variant appearance in text: RB1: 2548C>T; Q850*

PubMed Link: 35273153

Variant Present in the following documents:

• 41467_2022_28840_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Liquid Biopsy for Small Cell Lung Cancer either De Novo or Transformed: Systematic Review of Different Applications and Meta-Analysis.

Cancers

Pizzutilo, Elio Gregory EG; Pedrani, Martino M; Amatu, Alessio A; Ruggieri, Lorenzo L; Lauricella, Calogero C; Veronese, Silvio Marco SM; Signorelli, Diego D; Cerea, Giulio G; Giannetta, Laura L; Siena, Salvatore S; Sartore-Bianchi, Andrea A

Publication Date: 2021-05-08

Variant appearance in text: RB1: Q850X

PubMed Link: 34066817

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications

Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q

Publication Date: 2021-01-04

Variant appearance in text: RB1: 2548C>T; Q850*

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM9_ESM.xlsx, sheet 1
• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

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Novel RB1 and MET Gene Mutations in a Case with Bilateral Retinoblastoma Followed by Multiple Metastatic Osteosarcoma.

Diagnostics (Basel, Switzerland)

Mokánszki, Attila A; Chang Chien, Yi-Che YC; Mótyán, János András JA; Juhász, Péter P; Bádon, Emese Sarolta ES; Madar, László L; Szegedi, István I; Kiss, Csongor C; Méhes, Gábor G

Publication Date: 2020-12-25

Variant appearance in text: RB1: 2548C>T; Gln850Ter

PubMed Link: 33375764

Variant Present in the following documents:

• Main text
• diagnostics-11-00028.pdf

View BVdb publication page

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Identification of relevant genetic alterations in cancer using topological data analysis.

Nature Communications

Rabadán, Raúl R; Mohamedi, Yamina Y; Rubin, Udi U; Chu, Tim T; Alghalith, Adam N AN; Elliott, Oliver O; Arnés, Luis L; Cal, Santiago S; Obaya, Álvaro J ÁJ; Levine, Arnold J AJ; Cámara, Pablo G PG

Publication Date: 2020-07-30

Variant appearance in text: RB1: Q850*

PubMed Link: 32732999

Variant Present in the following documents:

• 41467_2020_17659_MOESM3_ESM.xls, sheet 1

View BVdb publication page

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Molecular subtyping and genomic profiling expand precision medicine in refractory metastatic triple-negative breast cancer: the FUTURE trial.

Cell Research

Jiang, Yi-Zhou YZ; Liu, Yin Y; Xiao, Yi Y; Hu, Xin X; Jiang, Lin L; Zuo, Wen-Jia WJ; Ma, Ding D; Ding, Jiahan J; Zhu, Xiaoyu X; Zou, Jianjun J; Verschraegen, Claire C; Stover, Daniel G DG; Kaklamani, Virginia V; Wang, Zhong-Hua ZH; Shao, Zhi-Ming ZM

Publication Date: 2021-02

Variant appearance in text: RB1: 2548C>T; Q850*

PubMed Link: 32719455

Variant Present in the following documents:

• 41422_2020_375_MOESM12_ESM.xlsx, sheet 1

View BVdb publication page

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: RB1: Q850*

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology

Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M

Publication Date: 2020-01-07

Variant appearance in text: RB1: 2548C>T; Q850*

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of 12 cancer types through genome deep learning.

Scientific Reports

Sun, Yingshuai Y; Zhu, Sitao S; Ma, Kailong K; Liu, Weiqing W; Yue, Yao Y; Hu, Gang G; Lu, Huifang H; Chen, Wenbin W

Publication Date: 2019-11-21

Variant appearance in text: RB1: Q850*

PubMed Link: 31754222

Variant Present in the following documents:

• 41598_2019_53989_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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An integrated genomic analysis of anaplastic meningioma identifies prognostic molecular signatures.

Scientific Reports

Collord, Grace G; Tarpey, Patrick P; Kurbatova, Natalja N; Martincorena, Inigo I; Moran, Sebastian S; Castro, Manuel M; Nagy, Tibor T; Bignell, Graham G; Maura, Francesco F; Young, Matthew D MD; Berna, Jorge J; Tubio, Jose M C JMC; McMurran, Chris E CE; Young, Adam M H AMH; Sanders, Mathijs M; Noorani, Imran I; Price, Stephen J SJ; Watts, Colin C; Leipnitz, Elke E; Kirsch, Matthias M; Schackert, Gabriele G; Pearson, Danita D; Devadass, Abel A; Ram, Zvi Z; Collins, V Peter VP; Allinson, Kieren K; Jenkinson, Michael D MD; Zakaria, Rasheed R; Syed, Khaja K; Hanemann, C Oliver CO; Dunn, Jemma J; McDermott, Michael W MW; Kirollos, Ramez W RW; Vassiliou, George S GS; Esteller, Manel M; Behjati, Sam S; Brazma, Alvis A; Santarius, Thomas T; McDermott, Ultan U

Publication Date: 2018-09-10

Variant appearance in text: RB1: Q850*

PubMed Link: 30202034

Variant Present in the following documents:

• 41598_2018_31659_MOESM2_ESM.xlsx, sheet 30

View BVdb publication page

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Longitudinal Cell-Free DNA Analysis in Patients with Small Cell Lung Cancer Reveals Dynamic Insights into Treatment Efficacy and Disease Relapse.

Journal Of Thoracic Oncology : Official Publication Of The International Association For The Study Of Lung Cancer

Almodovar, Karinna K; Iams, Wade T WT; Meador, Catherine B CB; Zhao, Zhiguo Z; York, Sally S; Horn, Leora L; Yan, Yingjun Y; Hernandez, Jennifer J; Chen, Heidi H; Shyr, Yu Y; Lim, Lee P LP; Raymond, Christopher K CK; Lovly, Christine M CM

Publication Date: 2018-01

Variant appearance in text: RB1: Q850*

PubMed Link: 28951314

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genomic Evolution of Breast Cancer Metastasis and Relapse.

Cancer Cell

Yates, Lucy R LR; Knappskog, Stian S; Wedge, David D; Farmery, James H R JHR; Gonzalez, Santiago S; Martincorena, Inigo I; Alexandrov, Ludmil B LB; Van Loo, Peter P; Haugland, Hans Kristian HK; Lilleng, Peer Kaare PK; Gundem, Gunes G; Gerstung, Moritz M; Pappaemmanuil, Elli E; Gazinska, Patrycja P; Bhosle, Shriram G SG; Jones, David D; Raine, Keiran K; Mudie, Laura L; Latimer, Calli C; Sawyer, Elinor E; Desmedt, Christine C; Sotiriou, Christos C; Stratton, Michael R MR; Sieuwerts, Anieta M AM; Lynch, Andy G AG; Martens, John W JW; Richardson, Andrea L AL; Tutt, Andrew A; Lønning, Per Eystein PE; Campbell, Peter J PJ

Publication Date: 2017-08-14

Variant appearance in text: RB1: Q850*

PubMed Link: 28810143

Variant Present in the following documents:

• mmc4.xlsx, sheet 3

View BVdb publication page

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Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Nature Communications

Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ

Publication Date: 2017-08-04

Variant appearance in text: RB1: Q850*

PubMed Link: 28775315

Variant Present in the following documents:

• 41467_2017_289_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Mutational Profile of Metastatic Breast Cancers: A Retrospective Analysis.

Plos Medicine

Lefebvre, Celine C; Bachelot, Thomas T; Filleron, Thomas T; Pedrero, Marion M; Campone, Mario M; Soria, Jean-Charles JC; Massard, Christophe C; Lévy, Christelle C; Arnedos, Monica M; Lacroix-Triki, Magali M; Garrabey, Julie J; Boursin, Yannick Y; Deloger, Marc M; Fu, Yu Y; Commo, Frédéric F; Scott, Véronique V; Lacroix, Ludovic L; Dieci, Maria Vittoria MV; Kamal, Maud M; Diéras, Véronique V; Gonçalves, Anthony A; Ferrerro, Jean-Marc JM; Romieu, Gilles G; Vanlemmens, Laurence L; Mouret Reynier, Marie-Ange MA; Théry, Jean-Christophe JC; Le Du, Fanny F; Guiu, Séverine S; Dalenc, Florence F; Clapisson, Gilles G; Bonnefoi, Hervé H; Jimenez, Marta M; Le Tourneau, Christophe C; André, Fabrice F

Publication Date: 2016-12

Variant appearance in text: RB1: Gln850*

PubMed Link: 28027327

Variant Present in the following documents:

• pmed.1002201.s012.xlsx, sheet 1

View BVdb publication page

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Meta-Analysis of the Luminal and Basal Subtypes of Bladder Cancer and the Identification of Signature Immunohistochemical Markers for Clinical Use.

Ebiomedicine

Dadhania, Vipulkumar V; Zhang, Miao M; Zhang, Li L; Bondaruk, Jolanta J; Majewski, Tadeusz T; Siefker-Radtke, Arlene A; Guo, Charles C CC; Dinney, Colin C; Cogdell, David E DE; Zhang, Shizhen S; Lee, Sangkyou S; Lee, June G JG; Weinstein, John N JN; Baggerly, Keith K; McConkey, David D; Czerniak, Bogdan B

Publication Date: 2016-10

Variant appearance in text: RB1: Q850X

PubMed Link: 27612592

Variant Present in the following documents:

• mmc6.xlsx, sheet 1

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: RB1: 2548C>T; Q850*

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 2

View BVdb publication page

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