RB1 c.1700C>A ;(p.S567*)

Variant ID: 13-49027133-C-A

NM_000321.2(RB1):c.1700C>A;(p.S567*)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Heterogeneity of the cancer cell line metabolic landscape.

Molecular Systems Biology
Shorthouse, David D; Bradley, Jenna J; Critchlow, Susan E SE; Bendtsen, Claus C; Hall, Benjamin A BA
Publication Date: 2022-11

Variant appearance in text: RB1: 1700C>A; Ser567Ter
PubMed Link: 36321551
Variant Present in the following documents:
  • MSB-18-e11006-s010.xlsx, sheet 1
View BVdb publication page



Case Report: A Case Study Documenting the Activity of Atezolizumab in a PD-L1-Negative Triple-Negative Breast Cancer.

Frontiers In Oncology
Brasó-Maristany, Fara F; Sansó, Miriam M; Chic, Nuria N; Martínez, Débora D; González-Farré, Blanca B; Sanfeliu, Esther E; Ghiglione, Lucio L; Carcelero, Esther E; Garcia-Corbacho, Javier J; Sánchez, Marcelo M; Soy, Dolors D; Jares, Pedro P; Peg, Vicente V; Saura, Cristina C; Muñoz, Montserrat M; Prat, Aleix A; Vivancos, Ana A
Publication Date: 2021

Variant appearance in text: RB1: S567*
PubMed Link: 34616675
Variant Present in the following documents:
  • Main text
  • fonc-11-710596.pdf
View BVdb publication page



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: S567*
PubMed Link: 34504233
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_97454.pdf
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: S567*
PubMed Link: 33630025
Variant Present in the following documents:
  • jamaoncol-e207987-s004.xlsx, sheet 2
View BVdb publication page



Resectable lung lesions malignancy assessment and cancer detection by ultra-deep sequencing of targeted gene mutations in plasma cell-free DNA.

Journal Of Medical Genetics
Peng, Muyun M; Xie, Yuancai Y; Li, Xiaohua X; Qian, Youhui Y; Tu, Xiaonian X; Yao, Xumei X; Cheng, Fangsheng F; Xu, Feiyue F; Kong, Deju D; He, Bing B; Liu, Chaoyu C; Cao, Fengjun F; Yang, Haoxian H; Yu, Fenglei F; Xu, Chuanbo C; Tian, Geng G
Publication Date: 2019-10

Variant appearance in text: RB1: 1700C>A; Ser567*
PubMed Link: 30981987
Variant Present in the following documents:
  • jmedgenet-2018-105825supp002.xlsx, sheet 4
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: 1700C>A; S567*
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



A network flow-based method to predict anticancer drug sensitivity.

Plos One
Qin, Yufang Y; Chen, Ming M; Wang, Haiyun H; Zheng, Xiaoqi X
Publication Date: 2015

Variant appearance in text: RB1: S567*
PubMed Link: 25992881
Variant Present in the following documents:
  • pone.0127380.s002.xlsx, sheet 1
View BVdb publication page



Systematic identification of genomic markers of drug sensitivity in cancer cells.

Nature
Garnett, Mathew J MJ; Edelman, Elena J EJ; Heidorn, Sonja J SJ; Greenman, Chris D CD; Dastur, Anahita A; Lau, King Wai KW; Greninger, Patricia P; Thompson, I Richard IR; Luo, Xi X; Soares, Jorge J; Liu, Qingsong Q; Iorio, Francesco F; Surdez, Didier D; Chen, Li L; Milano, Randy J RJ; Bignell, Graham R GR; Tam, Ah T AT; Davies, Helen H; Stevenson, Jesse A JA; Barthorpe, Syd S; Lutz, Stephen R SR; Kogera, Fiona F; Lawrence, Karl K; McLaren-Douglas, Anne A; Mitropoulos, Xeni X; Mironenko, Tatiana T; Thi, Helen H; Richardson, Laura L; Zhou, Wenjun W; Jewitt, Frances F; Zhang, Tinghu T; O'Brien, Patrick P; Boisvert, Jessica L JL; Price, Stacey S; Hur, Wooyoung W; Yang, Wanjuan W; Deng, Xianming X; Butler, Adam A; Choi, Hwan Geun HG; Chang, Jae Won JW; Baselga, Jose J; Stamenkovic, Ivan I; Engelman, Jeffrey A JA; Sharma, Sreenath V SV; Delattre, Olivier O; Saez-Rodriguez, Julio J; Gray, Nathanael S NS; Settleman, Jeffrey J; Futreal, P Andrew PA; Haber, Daniel A DA; Stratton, Michael R MR; Ramaswamy, Sridhar S; McDermott, Ultan U; Benes, Cyril H CH
Publication Date: 2012-03-28

Variant appearance in text: RB1: S567*
PubMed Link: 22460902
Variant Present in the following documents:
  • NIHMS47188-supplement-supp_data.xlsx, sheet 2
View BVdb publication page