Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: RB1: 1399C>T; Arg467Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Mutant-RB1 circulating tumor DNA in the blood of unilateral retinoblastoma patients: What happens during enucleation surgery: A pilot study.

Plos One

Abramson, David H DH; Mandelker, Diana L DL; Brannon, A Rose AR; Dunkel, Ira J IJ; Benayed, Ryma R; Berger, Michael F MF; Arcila, Maria E ME; Ladanyi, Marc M; Friedman, Danielle Novetsky DN; Jayakumaran, Gowtham G; Diosdado, Monica S MS; Robbins, Melissa A MA; Haggag-Lindgren, Dianna D; Shukla, Neerav N; Walsh, Michael F MF; Kothari, Prachi P; Tsui, Dana W Y DWY; Francis, Jasmine H JH

Publication Date: 2023

Variant appearance in text: RB1: 1399C>T; R467*

PubMed Link: 36735656

Variant Present in the following documents:

• Main text
• pone.0271505.pdf

View BVdb publication page

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De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.

Investigative Ophthalmology & Visual Science

Li, Wei W; He, Xiang-Dong XD; Yang, Zheng-Tao ZT; Han, Dong-Ming DM; Sun, Yan Y; Chen, Yan-Xian YX; Han, Xiao-Tong XT; Guo, Si-Cheng SC; Ma, Yu-Ting YT; Jin, Xin X; Yang, Huan-Ming HM; Gao, Ya Y; Wang, Zhuo-Shi ZS; Li, Jian-Kang JK; He, Wei W

Publication Date: 2023-02-01

Variant appearance in text: RB1: 1399C>T; Arg467Ter

PubMed Link: 36729443

Variant Present in the following documents:

• iovs-64-2-5_s003.xlsx, sheet 1
• iovs-64-2-5_s004.xlsx, sheet 1

View BVdb publication page

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Retrospective Evaluation of Somatic Alterations in Cell-Free DNA from Blood in Retinoblastoma.

Ophthalmology Science

Abramson, David H DH; Mandelker, Diana D; Francis, Jasmine H JH; Dunkel, Ira J IJ; Brannon, A Rose AR; Benayed, Ryma R; Berger, Michael F MF; Arcila, Maria E ME; Ladanyi, Marc M; Friedman, Danielle Novetsky DN; Jayakumaran, Gowtham G; Diosdado, Monica S MS; Robbins, Melissa A MA; Haggag-Lindgren, Dianna D; Shukla, Neerav N; Walsh, Michael M; Kothari, Prachi P; Tsui, Dana W Y DWY

Publication Date: 2021-03

Variant appearance in text: RB1: R467*

PubMed Link: 36246006

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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Inherited MUTYH mutations cause elevated somatic mutation rates and distinctive mutational signatures in normal human cells.

Nature Communications

Robinson, Philip S PS; Thomas, Laura E LE; Abascal, Federico F; Jung, Hyunchul H; Harvey, Luke M R LMR; West, Hannah D HD; Olafsson, Sigurgeir S; Lee, Bernard C H BCH; Coorens, Tim H H THH; Lee-Six, Henry H; Butlin, Laura L; Lander, Nicola N; Truscott, Rebekah R; Sanders, Mathijs A MA; Lensing, Stefanie V SV; Buczacki, Simon J A SJA; Ten Hoopen, Rogier R; Coleman, Nicholas N; Brunton-Sim, Roxanne R; Rushbrook, Simon S; Saeb-Parsy, Kourosh K; Lalloo, Fiona F; Campbell, Peter J PJ; Martincorena, Iñigo I; Sampson, Julian R JR; Stratton, Michael R MR

Publication Date: 2022-07-08

Variant appearance in text: RB1: R467*

PubMed Link: 35803914

Variant Present in the following documents:

• 41467_2022_31341_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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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: R467*

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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The interplay of cell cycle and DNA repair gene alterations in upper tract urothelial carcinoma: predictive and prognostic implications.

Precision Clinical Medicine

Vlachostergios, Panagiotis J PJ

Publication Date: 2020-09

Variant appearance in text: RB1: Arg467*

PubMed Link: 35694415

Variant Present in the following documents:

• Main text

View BVdb publication page

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Personalised selection of experimental treatment in patients with advanced solid cancer is feasible using whole-genome sequencing.

British Journal Of Cancer

Pruis, Melinda A MA; Groenendijk, Floris H FH; Badloe, K Sangeeta KS; van Puffelen, Andrea A; Robbrecht, Debbie D; Dinjens, Winand N M WNM; Sleijfer, Stefan S; Dingemans, Anne-Marie C AC; von der Thüsen, Jan H JH; Roepman, Paul P; Lolkema, Martijn P MP

Publication Date: 2022-09

Variant appearance in text: RB1: 1399C>T; Arg467*

PubMed Link: 35606463

Variant Present in the following documents:

• 41416_2022_1841_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.

Orphanet Journal Of Rare Diseases

Huang, Xinwen X; Wu, Dingwen D; Zhu, Lin L; Wang, Wenjun W; Yang, Rulai R; Yang, Jianbin J; He, Qunyan Q; Zhu, Bingquan B; You, Ying Y; Xiao, Rui R; Zhao, Zhengyan Z

Publication Date: 2022-02-21

Variant appearance in text: RB1: 1399C>T

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Base editing sensor libraries for high-throughput engineering and functional analysis of cancer-associated single nucleotide variants.

Nature Biotechnology

Sánchez-Rivera, Francisco J FJ; Diaz, Bianca J BJ; Kastenhuber, Edward R ER; Schmidt, Henri H; Katti, Alyna A; Kennedy, Margaret M; Tem, Vincent V; Ho, Yu-Jui YJ; Leibold, Josef J; Paffenholz, Stella V SV; Barriga, Francisco M FM; Chu, Kevan K; Goswami, Sukanya S; Wuest, Alexandra N AN; Simon, Janelle M JM; Tsanov, Kaloyan M KM; Chakravarty, Debyani D; Zhang, Hongxin H; Leslie, Christina S CS; Lowe, Scott W SW; Dow, Lukas E LE

Publication Date: 2022-06

Variant appearance in text: RB1: R467*

PubMed Link: 35165384

Variant Present in the following documents:

• NIHMS1760571-supplement-Supplementary_Table_S2.xlsx, sheet 6

View BVdb publication page

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: rs398123331

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8

View BVdb publication page

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: rs398123331

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8

View BVdb publication page

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Rearrangement-mediated cis-regulatory alterations in advanced patient tumors reveal interactions with therapy.

Cell Reports

Zhang, Yiqun Y; Chen, Fengju F; Pleasance, Erin E; Williamson, Laura L; Grisdale, Cameron J CJ; Titmuss, Emma E; Laskin, Janessa J; Jones, Steven J M SJM; Cortes-Ciriano, Isidro I; Marra, Marco A MA; Creighton, Chad J CJ

Publication Date: 2021-11-16

Variant appearance in text: RB1: 1399C>T; Arg467*

PubMed Link: 34788622

Variant Present in the following documents:

• NIHMS1757901-supplement-2.xlsx, sheet 3

View BVdb publication page

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Utility of plasma cell-free DNA for de novo detection and quantification of clonal hematopoiesis.

Haematologica

Gutierrez-Rodrigues, Fernanda F; Beerman, Isabel I; Groarke, Emma M EM; Patel, Bhavisha A BA; Spitofsky, Nina N; Dillon, Laura W LW; Raffo, Diego Quinones DQ; Hourigan, Christopher S CS; Kajigaya, Sachiko S; Ferrucci, Luigi L; Young, Neal S NS

Publication Date: 2022-08-01

Variant appearance in text: RB1: 1399C>T; Arg467Ter

PubMed Link: 34587721

Variant Present in the following documents:

• 2021_279230_GUTIERREZ-RODRIGUES_SUPPL.pdf

View BVdb publication page

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A high-risk retinoblastoma subtype with stemness features, dedifferentiated cone states and neuronal/ganglion cell gene expression.

Nature Communications

Liu, Jing J; Ottaviani, Daniela D; Sefta, Meriem M; Desbrousses, Céline C; Chapeaublanc, Elodie E; Aschero, Rosario R; Sirab, Nanor N; Lubieniecki, Fabiana F; Lamas, Gabriela G; Tonon, Laurie L; Dehainault, Catherine C; Hua, Clément C; Fréneaux, Paul P; Reichman, Sacha S; Karboul, Narjesse N; Biton, Anne A; Mirabal-Ortega, Liliana L; Larcher, Magalie M; Brulard, Céline C; Arrufat, Sandrine S; Nicolas, André A; Elarouci, Nabila N; Popova, Tatiana T; Némati, Fariba F; Decaudin, Didier D; Gentien, David D; Baulande, Sylvain S; Mariani, Odette O; Dufour, Florent F; Guibert, Sylvain S; Vallot, Céline C; Rouic, Livia Lumbroso-Le LL; Matet, Alexandre A; Desjardins, Laurence L; Pascual-Pasto, Guillem G; Suñol, Mariona M; Catala-Mora, Jaume J; Llano, Genoveva Correa GC; Couturier, Jérôme J; Barillot, Emmanuel E; Schaiquevich, Paula P; Gauthier-Villars, Marion M; Stoppa-Lyonnet, Dominique D; Golmard, Lisa L; Houdayer, Claude C; Brisse, Hervé H; Bernard-Pierrot, Isabelle I; Letouzé, Eric E; Viari, Alain A; Saule, Simon S; Sastre-Garau, Xavier X; Doz, François F; Carcaboso, Angel M AM; Cassoux, Nathalie N; Pouponnot, Celio C; Goureau, Olivier O; Chantada, Guillermo G; de Reyniès, Aurélien A; Aerts, Isabelle I; Radvanyi, François F

Publication Date: 2021-09-22

Variant appearance in text: RB1: R467X

PubMed Link: 34552068

Variant Present in the following documents:

• 41467_2021_25792_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Genomic landscape of gliosarcoma: distinguishing features and targetable alterations.

Scientific Reports

Zaki, Mark M MM; Mashouf, Leila A LA; Woodward, Eleanor E; Langat, Pinky P; Gupta, Saksham S; Dunn, Ian F IF; Wen, Patrick Y PY; Nahed, Brian V BV; Bi, Wenya Linda WL

Publication Date: 2021-09-09

Variant appearance in text: RB1: R467*

PubMed Link: 34504233

Variant Present in the following documents:

• Main text

View BVdb publication page

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The RB1 Mutation Spectrum and Genetic Management Consultation in Pediatric Patients with Retinoblastoma in Beijing, China.

Risk Management And Healthcare Policy

Xie, Ying Y; Xu, Xiao-Lin XL; Wei, Wen-Bin WB

Publication Date: 2021

Variant appearance in text: RB1: 1399C>T; R467X

PubMed Link: 34456592

Variant Present in the following documents:

• Main text
• rmhp-14-3453.pdf

View BVdb publication page

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Retinoblastoma from human stem cell-derived retinal organoids.

Nature Communications

Norrie, Jackie L JL; Nityanandam, Anjana A; Lai, Karen K; Chen, Xiang X; Wilson, Matthew M; Stewart, Elizabeth E; Griffiths, Lyra L; Jin, Hongjian H; Wu, Gang G; Orr, Brent B; Tran, Quynh Q; Allen, Sariah S; Reilly, Colleen C; Zhou, Xin X; Zhang, Jiakun J; Newman, Kyle K; Johnson, Dianna D; Brennan, Rachel R; Dyer, Michael A MA

Publication Date: 2021-07-27

Variant appearance in text: RB1: R467*

PubMed Link: 34315877

Variant Present in the following documents:

• 41467_2021_24781_MOESM7_ESM.xlsx, sheet 4

View BVdb publication page

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Clinicopathological and genomic features in patients with head and neck neuroendocrine carcinoma.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc

Ohmoto, Akihiro A; Sato, Yukiko Y; Asaka, Reimi R; Fukuda, Naoki N; Wang, Xiaofei X; Urasaki, Tetsuya T; Hayashi, Naomi N; Sato, Yasuyoshi Y; Nakano, Kenji K; Yunokawa, Mayu M; Ono, Makiko M; Tomomatsu, Junichi J; Toshiyasu, Takashi T; Mitani, Hiroki H; Takeuchi, Kengo K; Mori, Seiichi S; Takahashi, Shunji S

Publication Date: 2021-11

Variant appearance in text: RB1: Arg467Ter; rs398123331

PubMed Link: 34247193

Variant Present in the following documents:

• Main text
• 41379_2021_Article_869.pdf

View BVdb publication page

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Clinicopathological and genomic features in patients with head and neck neuroendocrine carcinoma.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc

Ohmoto, Akihiro A; Sato, Yukiko Y; Asaka, Reimi R; Fukuda, Naoki N; Wang, Xiaofei X; Urasaki, Tetsuya T; Hayashi, Naomi N; Sato, Yasuyoshi Y; Nakano, Kenji K; Yunokawa, Mayu M; Ono, Makiko M; Tomomatsu, Junichi J; Toshiyasu, Takashi T; Mitani, Hiroki H; Takeuchi, Kengo K; Mori, Seiichi S; Takahashi, Shunji S

Publication Date: 2021-11

Variant appearance in text: RB1: Arg467Ter; rs398123331

PubMed Link: 34247193

Variant Present in the following documents:

• Main text
• 41379_2021_Article_869.pdf

View BVdb publication page

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PI3K Inhibitors in Cancer: Clinical Implications and Adverse Effects.

International Journal Of Molecular Sciences

Mishra, Rosalin R; Patel, Hima H; Alanazi, Samar S; Kilroy, Mary Kate MK; Garrett, Joan T JT

Publication Date: 2021-03-27

Variant appearance in text: RB1: R467X

PubMed Link: 33801659

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genomic analysis between idiopathic pulmonary fibrosis and associated lung cancer using laser-assisted microdissection: A case report.

Thoracic Cancer

Iida, Yuko Y; Gon, Yasuhiro Y; Nakanishi, Yoko Y; Kurosawa, Yusuke Y; Nakagawa, Yoshiko Y; Mizumura, Kenji K; Shimizu, Tetsuo T; Takahashi, Noriaki N; Masuda, Shinobu S

Publication Date: 2021-05

Variant appearance in text: RB1: 1399C>T; Arg467*

PubMed Link: 33784423

Variant Present in the following documents:

• Main text
• TCA-12-1449.pdf

View BVdb publication page

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Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.

Jama Oncology

Cobain, Erin F EF; Wu, Yi-Mi YM; Vats, Pankaj P; Chugh, Rashmi R; Worden, Francis F; Smith, David C DC; Schuetze, Scott M SM; Zalupski, Mark M MM; Sahai, Vaibhav V; Alva, Ajjai A; Schott, Anne F AF; Caram, Megan E V MEV; Hayes, Daniel F DF; Stoffel, Elena M EM; Jacobs, Michelle F MF; Kumar-Sinha, Chandan C; Cao, Xuhong X; Wang, Rui R; Lucas, David D; Ning, Yu Y; Rabban, Erica E; Bell, Janice J; Camelo-Piragua, Sandra S; Udager, Aaron M AM; Cieslik, Marcin M; Lonigro, Robert J RJ; Kunju, Lakshmi P LP; Robinson, Dan R DR; Talpaz, Moshe M; Chinnaiyan, Arul M AM

Publication Date: 2021-04-01

Variant appearance in text: RB1: R467*

PubMed Link: 33630025

Variant Present in the following documents:

• jamaoncol-e207987-s004.xlsx, sheet 2

View BVdb publication page

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Spectrum of germline mutations in RB1 in Chinese patients with retinoblastoma: Application of targeted next-generation sequencing.

Molecular Vision

Zou, Yihua Y; Li, Jiakai J; Hua, Peiyan P; Liang, Tingyi T; Ji, Xunda X; Zhao, Peiquan P

Publication Date: 2021

Variant appearance in text: RB1: 1399C>T; R467X

PubMed Link: 33456302

Variant Present in the following documents:

• Main text
• mv-v27-1.pdf

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: 1399C>T; R467*

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.

Cancer Medicine

Sivapiragasam, Abirami A; Ashok Kumar, Prashanth P; Sokol, Ethan S ES; Albacker, Lee A LA; Killian, Jonathan K JK; Ramkissoon, Shakti H SH; Huang, Richard S P RSP; Severson, Eric A EA; Brown, Charlotte A CA; Danziger, Natalie N; McGregor, Kimberly K; Ross, Jeffrey S JS

Publication Date: 2021-01

Variant appearance in text: RB1: R467*

PubMed Link: 33314633

Variant Present in the following documents:

• CAM4-10-53-s003.xlsx, sheet 1
• CAM4-10-53-s002.xlsx, sheet 1

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: 1399C>T; R467*

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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TBCRC 032 IB/II Multicenter Study: Molecular Insights to AR Antagonist and PI3K Inhibitor Efficacy in Patients with AR+ Metastatic Triple-Negative Breast Cancer.

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

Lehmann, Brian D BD; Abramson, Vandana G VG; Sanders, Melinda E ME; Mayer, Erica L EL; Haddad, Tufia C TC; Nanda, Rita R; Van Poznak, Catherine C; Storniolo, Anna Maria AM; Nangia, Julie R JR; Gonzalez-Ericsson, Paula I PI; Sanchez, Violeta V; Johnson, Kimberly N KN; Abramson, Richard G RG; Chen, Sheau-Chiann SC; Shyr, Yu Y; Arteaga, Carlos L CL; Wolff, Antonio C AC; Pietenpol, Jennifer A JA; ,

Publication Date: 2020-05-01

Variant appearance in text: RB1: R467X

PubMed Link: 31822498

Variant Present in the following documents:

• Main text

View BVdb publication page

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An Ophthalmic Targeted Exome Sequencing Panel as a Powerful Tool to Identify Causative Mutations in Patients Suspected of Hereditary Eye Diseases.

Translational Vision Science & Technology

Wang, Panfeng P; Li, Shiqiang S; Sun, Wenming W; Xiao, Xueshan X; Jia, Xiaoyun X; Liu, Mengchu M; Xu, Lieqiang L; Long, Yuxi Y; Zhang, Qingjiong Q

Publication Date: 2019-03

Variant appearance in text: RB1: 1399C>T; Arg467*

PubMed Link: 31106028

Variant Present in the following documents:

• tvst-08-02-12_s02.xlsx, sheet 1

View BVdb publication page

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Spectrum of mutations in the RB1 gene in Vietnamese patients with retinoblastoma.

Molecular Vision

Kiet, Nguyen Cong NC; Khuong, Le Thai LT; Minh, Do Duc DD; , ; Quan, Nguyen Huynh Minh NHM; Xinh, Phan Thi PT; Trang, Nguyen Ngoc Chau NNC; Luan, Nguyen Thanh NT; Khai, Nguyen Minh NM; Vu, Hoang Anh HA

Publication Date: 2019

Variant appearance in text: RB1: 1399C>T

PubMed Link: 30996590

Variant Present in the following documents:

• Main text
• mv-v25-215.pdf

View BVdb publication page

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Analysis of error profiles in deep next-generation sequencing data.

Genome Biology

Ma, Xiaotu X; Shao, Ying Y; Tian, Liqing L; Flasch, Diane A DA; Mulder, Heather L HL; Edmonson, Michael N MN; Liu, Yu Y; Chen, Xiang X; Newman, Scott S; Nakitandwe, Joy J; Li, Yongjin Y; Li, Benshang B; Shen, Shuhong S; Wang, Zhaoming Z; Shurtleff, Sheila S; Robison, Leslie L LL; Levy, Shawn S; Easton, John J; Zhang, Jinghui J

Publication Date: 2019-03-14

Variant appearance in text: RB1: R467*

PubMed Link: 30867008

Variant Present in the following documents:

• 13059_2019_1659_MOESM1_ESM.xlsx, sheet 7

View BVdb publication page

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Toward automation of germline variant curation in clinical cancer genetics.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J

Publication Date: 2019-09

Variant appearance in text: RB1: 1399C>T; Arg467X

PubMed Link: 30787465

Variant Present in the following documents:

• NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6

View BVdb publication page

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CCNE1 amplification is associated with poor prognosis in patients with triple negative breast cancer.

Bmc Cancer

Zhao, Zi-Ming ZM; Yost, Susan E SE; Hutchinson, Katherine E KE; Li, Sierra Min SM; Yuan, Yate-Ching YC; Noorbakhsh, Javad J; Liu, Zheng Z; Warden, Charles C; Johnson, Radia M RM; Wu, Xiwei X; Chuang, Jeffrey H JH; Yuan, Yuan Y

Publication Date: 2019-01-21

Variant appearance in text: RB1: R467*

PubMed Link: 30665374

Variant Present in the following documents:

• 12885_2019_5290_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Comprehensive genomic profiling identifies novel NTRK fusions in neuroendocrine tumors.

Oncotarget

Sigal, Darren S DS; Bhangoo, Munveer S MS; Hermel, Jonathan A JA; Pavlick, Dean C DC; Frampton, Garrett G; Miller, Vincent A VA; Ross, Jeffrey S JS; Ali, Siraj M SM

Publication Date: 2018-11-09

Variant appearance in text: RB1: R467*

PubMed Link: 30533196

Variant Present in the following documents:

• oncotarget-09-35809.pdf

View BVdb publication page

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Integrative genomic profiling of large-cell neuroendocrine carcinomas reveals distinct subtypes of high-grade neuroendocrine lung tumors.

Nature Communications

George, Julie J; Walter, Vonn V; Peifer, Martin M; Alexandrov, Ludmil B LB; Seidel, Danila D; Leenders, Frauke F; Maas, Lukas L; Müller, Christian C; Dahmen, Ilona I; Delhomme, Tiffany M TM; Ardin, Maude M; Leblay, Noemie N; Byrnes, Graham G; Sun, Ruping R; De Reynies, Aurélien A; McLeer-Florin, Anne A; Bosco, Graziella G; Malchers, Florian F; Menon, Roopika R; Altmüller, Janine J; Becker, Christian C; Nürnberg, Peter P; Achter, Viktor V; Lang, Ulrich U; Schneider, Peter M PM; Bogus, Magdalena M; Soloway, Matthew G MG; Wilkerson, Matthew D MD; Cun, Yupeng Y; McKay, James D JD; Moro-Sibilot, Denis D; Brambilla, Christian G CG; Lantuejoul, Sylvie S; Lemaitre, Nicolas N; Soltermann, Alex A; Weder, Walter W; Tischler, Verena V; Brustugun, Odd Terje OT; Lund-Iversen, Marius M; Helland, Åslaug Å; Solberg, Steinar S; Ansén, Sascha S; Wright, Gavin G; Solomon, Benjamin B; Roz, Luca L; Pastorino, Ugo U; Petersen, Iver I; Clement, Joachim H JH; Sänger, Jörg J; Wolf, Jürgen J; Vingron, Martin M; Zander, Thomas T; Perner, Sven S; Travis, William D WD; Haas, Stefan A SA; Olivier, Magali M; Foll, Matthieu M; Büttner, Reinhard R; Hayes, David Neil DN; Brambilla, Elisabeth E; Fernandez-Cuesta, Lynnette L; Thomas, Roman K RK

Publication Date: 2018-03-13

Variant appearance in text: RB1: 1399C>T; R467*

PubMed Link: 29535388

Variant Present in the following documents:

• 41467_2018_3099_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Defective splicing of the RB1 transcript is the dominant cause of retinoblastomas.

Human Genetics

Cygan, Kamil J KJ; Soemedi, Rachel R; Rhine, Christy L CL; Profeta, Abraham A; Murphy, Eileen L EL; Murray, Michael F MF; Fairbrother, William G WG

Publication Date: 2017-09

Variant appearance in text: RB1: 1399C>T

PubMed Link: 28780672

Variant Present in the following documents:

• Main text

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Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling.

Plos One

Tomar, Swati S; Sethi, Raman R; Sundar, Gangadhara G; Quah, Thuan Chong TC; Quah, Boon Long BL; Lai, Poh San PS

Publication Date: 2017

Variant appearance in text: RB1: 1399C>T; Arg467*

PubMed Link: 28575107

Variant Present in the following documents:

• Main text
• pone.0178776.pdf

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Genetic screening in Iranian patients with retinoblastoma.

Eye (London, England)

Shahraki, K K; Ahani, A A; Sharma, P P; Faranoush, M M; Bahoush, G G; Torktaz, I I; Gahl, W A WA; Naseripour, M M; Behnam, B B

Publication Date: 2017-04

Variant appearance in text: RB1: 1399C>T; R467X

PubMed Link: 27983729

Variant Present in the following documents:

• Main text

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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: 1399C>T; R467*

PubMed Link: 27397505

Variant Present in the following documents:

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

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A Rapid and Sensitive Next-Generation Sequencing Method to Detect RB1 Mutations Improves Care for Retinoblastoma Patients and Their Families.

The Journal Of Molecular Diagnostics : Jmd

Li, Wenhui L WL; Buckley, Jonathan J; Sanchez-Lara, Pedro A PA; Maglinte, Dennis T DT; Viduetsky, Lucy L; Tatarinova, Tatiana V TV; Aparicio, Jennifer G JG; Kim, Jonathan W JW; Au, Margaret M; Ostrow, Dejerianne D; Lee, Thomas C TC; O'Gorman, Maurice M; Judkins, Alexander A; Cobrinik, David D; Triche, Timothy J TJ

Publication Date: 2016-07

Variant appearance in text: RB1: 1399C>T

PubMed Link: 27155049

Variant Present in the following documents:

• Main text

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Genetic profiles of cervical tumors by high-throughput sequencing for personalized medical care.

Cancer Medicine

Muller, Etienne E; Brault, Baptiste B; Holmes, Allyson A; Legros, Angelina A; Jeannot, Emmanuelle E; Campitelli, Maura M; Rousselin, Antoine A; Goardon, Nicolas N; Frébourg, Thierry T; Krieger, Sophie S; Crouet, Hubert H; Nicolas, Alain A; Sastre, Xavier X; Vaur, Dominique D; Castéra, Laurent L

Publication Date: 2015-10

Variant appearance in text: RB1: 1399C>T

PubMed Link: 26155992

Variant Present in the following documents:

• cam40004-1484-sd2.xlsx, sheet 1

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Targeted next generation sequencing of RB1 gene for the molecular diagnosis of Retinoblastoma.

Bmc Cancer

Devarajan, Bharanidharan B; Prakash, Logambiga L; Kannan, Thirumalai Raj TR; Abraham, Aloysius A AA; Kim, Usha U; Muthukkaruppan, Veerappan V; Vanniarajan, Ayyasamy A

Publication Date: 2015-04-28

Variant appearance in text: RB1: R467X

PubMed Link: 25928201

Variant Present in the following documents:

• Main text
• 12885_2015_Article_1340.pdf

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Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism.

European Journal Of Human Genetics : Ejhg

Amitrano, Sara S; Marozza, Annabella A; Somma, Serena S; Imperatore, Valentina V; Hadjistilianou, Theodora T; De Francesco, Sonia S; Toti, Paolo P; Galimberti, Daniela D; Meloni, Ilaria I; Cetta, Francesco F; Piu, Pietro P; Di Marco, Chiara C; Dosa, Laura L; Lo Rizzo, Caterina C; Carignani, Giulia G; Mencarelli, Maria Antonietta MA; Mari, Francesca F; Renieri, Alessandra A; Ariani, Francesca F

Publication Date: 2015-11

Variant appearance in text: RB1: 1399C>T

PubMed Link: 25712084

Variant Present in the following documents:

• Main text

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Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: RB1: R467*

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-6.xlsx, sheet 1
• NIHMS630249-supplement-5.xlsx, sheet 1

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Screening of RB1 gene mutations in Chinese patients with retinoblastoma and preliminary exploration of genotype-phenotype correlations.

Molecular Vision

He, Ming-yan MY; An, Yu Y; Gao, Yi-jin YJ; Qian, Xiao-wen XW; Li, Gang G; Qian, Jiang J

Publication Date: 2014

Variant appearance in text: RB1: 1399C>T; R467X

PubMed Link: 24791139

Variant Present in the following documents:

• Main text
• mv-v20-545.pdf

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Tumorspheres but not adherent cells derived from retinoblastoma tumors are of malignant origin.

Plos One

Bond, Wesley S WS; Akinfenwa, Patricia Y PY; Perlaky, Laszlo L; Hurwitz, Mary Y MY; Hurwitz, Richard L RL; Chévez-Barrios, Patricia P

Publication Date: 2013

Variant appearance in text: RB1: 1399C>T

PubMed Link: 23826078

Variant Present in the following documents:

• Main text

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RB1 mutations and second primary malignancies after hereditary retinoblastoma.

Familial Cancer

Dommering, Charlotte J CJ; Marees, Tamara T; van der Hout, Annemarie H AH; Imhof, Saskia M SM; Meijers-Heijboer, Hanne H; Ringens, Peter J PJ; van Leeuwen, Flora E FE; Moll, Annette C AC

Publication Date: 2012-06

Variant appearance in text: RB1: Arg467X

PubMed Link: 22205104

Variant Present in the following documents:

• Main text

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Molecular karyotype of sporadic unilateral retinoblastoma tumors.

Retina (Philadelphia, Pa.)

Ganguly, Arupa A; Nichols, Kim E KE; Grant, Gregory G; Rappaport, Eric E; Shields, Carol C

Publication Date: 2009

Variant appearance in text: RB1: R467X

PubMed Link: 19491728

Variant Present in the following documents:

• Main text

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RB1 gene mutation up-date, a meta-analysis based on 932 reported mutations available in a searchable database.

Bmc Genetics

Valverde, José R JR; Alonso, Javier J; Palacios, Itziar I; Pestaña, Angel A

Publication Date: 2005-11-04

Variant appearance in text: RB1: R467X

PubMed Link: 16269091

Variant Present in the following documents:

• 1471-2156-6-53-S2.xls, sheet 1

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Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma.

American Journal Of Human Genetics

Richter, Suzanne S; Vandezande, Kirk K; Chen, Ning N; Zhang, Katherine K; Sutherland, Joanne J; Anderson, Julie J; Han, Liping L; Panton, Rachel R; Branco, Patricia P; Gallie, Brenda B

Publication Date: 2003-02

Variant appearance in text: RB1: R467X

PubMed Link: 12541220

Variant Present in the following documents:

• Main text

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