RB1 c.1689G>A ;(p.W563*)

Variant ID: 13-48955573-G-A

NM_000321.2(RB1):c.1689G>A;(p.W563*)

This variant was identified in 13 publications

View GRCh38 version.




Publications:


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: 1689G>A; W563*
PubMed Link: 36735656
Variant Present in the following documents:
  • Main text
  • pone.0271505.pdf
View BVdb publication page



Spinal Metastasis in a Patient with Supratentorial Glioblastoma with Primitive Neuronal Component: A Case Report with Clinical and Molecular Evaluation.

Diagnostics (Basel, Switzerland)
Hendrych, Michal M; Solar, Peter P; Hermanova, Marketa M; Slaby, Ondrej O; Valekova, Hana H; Vecera, Marek M; Kopkova, Alena A; Mackerle, Zdenek Z; Kazda, Tomas T; Pospisil, Petr P; Lakomy, Radek R; Chrastina, Jan J; Sana, Jiri J; Jancalek, Radim R
Publication Date: 2023-01-04

Variant appearance in text: RB1: 1689G>A; Trp563Ter
PubMed Link: 36672991
Variant Present in the following documents:
  • Main text
  • diagnostics-13-00181.pdf
View BVdb publication page



Therapy-related Acute Lymphoblastic Leukaemia has a Unique Genetic Profile Compared to De Novo Acute Lymphoblastic Leukaemia.

Journal Of Cancer
Kook, Hye Won HW; Kim, Jin Ju JJ; Park, Mi Ri MR; Jang, Ji Eun JE; Min, Yoo Hong YH; Lee, Seung-Tae ST; Shin, Saeam S; Cheong, June-Won JW
Publication Date: 2022

Variant appearance in text: RB1: Trp563Ter
PubMed Link: 36186901
Variant Present in the following documents:
  • jcav13p3326.pdf
View BVdb publication page



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: W563*
PubMed Link: 35705558
Variant Present in the following documents:
  • 41467_2022_30496_MOESM2_ESM.xls, sheet 1
View BVdb publication page



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: W563*
PubMed Link: 35165384
Variant Present in the following documents:
  • NIHMS1760571-supplement-Supplementary_Table_S2.xlsx, sheet 4
  • NIHMS1760571-supplement-Supplementary_Table_S2.xlsx, sheet 6
  • NIHMS1760571-supplement-Supplementary_Table_S7.xlsx, sheet 5
View BVdb publication page



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: W563*
PubMed Link: 33630025
Variant Present in the following documents:
  • jamaoncol-e207987-s004.xlsx, sheet 2
View BVdb publication page



Genetic aberrations in Chinese pancreatic cancer patients and their association with anatomic location and disease outcomes.

Cancer Medicine
Lu, Junliang J; Yu, Ruoying R; Liu, Rui R; Liang, Xiaolong X; Sun, Jian J; Zhang, Hui H; Wu, Huanwen H; Zhang, Zhiwen Z; Shao, Yang W YW; Guo, Junchao J; Liang, Zhiyong Z
Publication Date: 2021-02

Variant appearance in text: RB1: W563X
PubMed Link: 33350171
Variant Present in the following documents:
  • CAM4-10-933-s001.xlsx, sheet 1
View BVdb publication page



Interleukin 6 is increased in preclinical HNSCC models of acquired cetuximab resistance, but is not required for maintenance of resistance.

Plos One
O'Keefe, Rachel A RA; Bhola, Neil E NE; Lee, David S DS; Johnson, Daniel E DE; Grandis, Jennifer R JR
Publication Date: 2020

Variant appearance in text: RB1: W563*
PubMed Link: 31914141
Variant Present in the following documents:
  • Main text
View BVdb publication page



Recurrent WNT pathway alterations are frequent in relapsed small cell lung cancer.

Nature Communications
Wagner, Alex H AH; Devarakonda, Siddhartha S; Skidmore, Zachary L ZL; Krysiak, Kilannin K; Ramu, Avinash A; Trani, Lee L; Kunisaki, Jason J; Masood, Ashiq A; Waqar, Saiama N SN; Spies, Nicholas C NC; Morgensztern, Daniel D; Waligorski, Jason J; Ponce, Jennifer J; Fulton, Robert S RS; Maggi, Leonard B LB; Weber, Jason D JD; Watson, Mark A MA; O'Conor, Christopher J CJ; Ritter, Jon H JH; Olsen, Rachelle R RR; Cheng, Haixia H; Mukhopadhyay, Anandaroop A; Can, Ismail I; Cessna, Melissa H MH; Oliver, Trudy G TG; Mardis, Elaine R ER; Wilson, Richard K RK; Griffith, Malachi M; Griffith, Obi L OL; Govindan, Ramaswamy R
Publication Date: 2018-09-17

Variant appearance in text: RB1: W563*
PubMed Link: 30224629
Variant Present in the following documents:
  • 41467_2018_6162_MOESM13_ESM.xlsx, sheet 1
View BVdb publication page



Recurrent mutation of IGF signalling genes and distinct patterns of genomic rearrangement in osteosarcoma.

Nature Communications
Behjati, Sam S; Tarpey, Patrick S PS; Haase, Kerstin K; Ye, Hongtao H; Young, Matthew D MD; Alexandrov, Ludmil B LB; Farndon, Sarah J SJ; Collord, Grace G; Wedge, David C DC; Martincorena, Inigo I; Cooke, Susanna L SL; Davies, Helen H; Mifsud, William W; Lidgren, Mathias M; Martin, Sancha S; Latimer, Calli C; Maddison, Mark M; Butler, Adam P AP; Teague, Jon W JW; Pillay, Nischalan N; Shlien, Adam A; McDermott, Ultan U; Futreal, P Andrew PA; Baumhoer, Daniel D; Zaikova, Olga O; Bjerkehagen, Bodil B; Myklebost, Ola O; Amary, M Fernanda MF; Tirabosco, Roberto R; Van Loo, Peter P; Stratton, Michael R MR; Flanagan, Adrienne M AM; Campbell, Peter J PJ
Publication Date: 2017-06-23

Variant appearance in text: RB1: 1689G>A; W563*
PubMed Link: 28643781
Variant Present in the following documents:
  • ncomms15936-s5.xlsx, sheet 1
  • ncomms15936-s3.xlsx, sheet 1
View BVdb publication page



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: 1689G>A; W563*
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



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: 1689G>A; W563X
PubMed Link: 24791139
Variant Present in the following documents:
  • Main text
  • mv-v20-545.pdf
View BVdb publication page



RB1 gene inactivation by chromothripsis in human retinoblastoma.

Oncotarget
McEvoy, Justina J; Nagahawatte, Panduka P; Finkelstein, David D; Richards-Yutz, Jennifer J; Valentine, Marcus M; Ma, Jing J; Mullighan, Charles C; Song, Guangchun G; Chen, Xiang X; Wilson, Matthew M; Brennan, Rachel R; Pounds, Stanley S; Becksfort, Jared J; Huether, Robert R; Lu, Charles C; Fulton, Robert S RS; Fulton, Lucinda L LL; Hong, Xin X; Dooling, David J DJ; Ochoa, Kerri K; Mardis, Elaine R ER; Wilson, Richard K RK; Easton, John J; Zhang, Jinghui J; Downing, James R JR; Ganguly, Arupa A; Dyer, Michael A MA
Publication Date: 2014-01-30

Variant appearance in text: RB1: W563*
PubMed Link: 24509483
Variant Present in the following documents:
  • oncotarget-05-438-s002.xlsx, sheet 9
View BVdb publication page