RB1 c.2143A>T ;(p.K715*)

Variant ID: 13-49037903-A-T

NM_000321.2(RB1):c.2143A>T;(p.K715*)

This variant was identified in 15 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: 2143A>T; Lys715Ter
PubMed Link: 36321551
Variant Present in the following documents:
  • MSB-18-e11006-s010.xlsx, sheet 1
View BVdb publication page



Identifying Phased Mutations and Complex Rearrangements in Human Prostate Cancer Cell Lines through Linked-Read Whole-Genome Sequencing.

Molecular Cancer Research : Mcr
Pham, Minh-Tam MT; Gupta, Anuj A; Gupta, Harshath H; Vaghasia, Ajay A; Skaist, Alyza A; Garrison, McKinzie A MA; Coulter, Jonathan B JB; Haffner, Michael C MC; Zheng, S Lilly SL; Xu, Jianfeng J; DeStefano Shields, Christina C; Isaacs, William B WB; Wheelan, Sarah J SJ; Nelson, William G WG; Yegnasubramanian, Srinivasan S
Publication Date: 2022-07-06

Variant appearance in text: RB1: 2143A>T; K715*
PubMed Link: 35452513
Variant Present in the following documents:
  • mcr-21-0683_supplementary_tables_1-13_suppst1-13.xlsx, sheet 7
View BVdb publication page



Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Thoracic Cancer
Asselta, Rosanna R; Di Tommaso, Luca L; Perrino, Matteo M; Destro, Annarita A; Giordano, Laura L; Cardamone, Giulia G; Rubino, Luca L; Santoro, Armando A; Duga, Stefano S; Zucali, Paolo Andrea PA
Publication Date: 2021-05

Variant appearance in text: RB1: 2143A>T; K715*
PubMed Link: 33704917
Variant Present in the following documents:
  • TCA-12-1271-s003.xls, sheet 1
View BVdb publication page



The genomic landscape of Mongolian hepatocellular carcinoma.

Nature Communications
Candia, Julián J; Bayarsaikhan, Enkhjargal E; Tandon, Mayank M; Budhu, Anuradha A; Forgues, Marshonna M; Tovuu, Lkhagva-Ochir LO; Tudev, Undarmaa U; Lack, Justin J; Chao, Ann A; Chinburen, Jigjidsuren J; Wang, Xin Wei XW
Publication Date: 2020-09-01

Variant appearance in text: RB1: 2143A>T; K715*
PubMed Link: 32873799
Variant Present in the following documents:
  • 41467_2020_18186_MOESM15_ESM.xlsx, sheet 1
View BVdb publication page



Development and validation of a targeted gene sequencing panel for application to disparate cancers.

Scientific Reports
McCabe, Mark J MJ; Gauthier, Marie-Emilie A MA; Chan, Chia-Ling CL; Thompson, Tanya J TJ; De Sousa, Sunita M C SMC; Puttick, Clare C; Grady, John P JP; Gayevskiy, Velimir V; Tao, Jiang J; Ying, Kevin K; Cipponi, Arcadi A; Deng, Niantao N; Swarbrick, Alex A; Thomas, Melissa L ML; Lord, Reginald V RV; Johns, Amber L AL; Kohonen-Corish, Maija M; O'Toole, Sandra A SA; Clark, Jonathan J; Mueller, Simon A SA; Gupta, Ruta R; McCormack, Ann I AI; Dinger, Marcel E ME; Cowley, Mark J MJ; ,
Publication Date: 2019-11-19

Variant appearance in text: RB1: 2143A>T; K715*
PubMed Link: 31745186
Variant Present in the following documents:
  • 41598_2019_52000_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



False-negative errors in next-generation sequencing contribute substantially to inconsistency of mutation databases.

Plos One
Kim, Young-Ho YH; Song, Yura Y; Kim, Jong-Kwang JK; Kim, Tae-Min TM; Sim, Hye Won HW; Kim, Hyung-Lae HL; Jang, Hyonchol H; Kim, Young-Woo YW; Hong, Kyeong-Man KM
Publication Date: 2019

Variant appearance in text: RB1: 2143A>T; K715*
PubMed Link: 31513681
Variant Present in the following documents:
  • pone.0222535.s006.xlsx, sheet 1
View BVdb publication page



Targeted mutation detection in breast cancer using MammaSeq™.

Breast Cancer Research : Bcr
Smith, Nicholas G NG; Gyanchandani, Rekha R; Shah, Osama S OS; Gurda, Grzegorz T GT; Lucas, Peter C PC; Hartmaier, Ryan J RJ; Brufsky, Adam M AM; Puhalla, Shannon S; Bahreini, Amir A; Kota, Karthik K; Wald, Abigail I AI; Nikiforov, Yuri E YE; Nikiforova, Marina N MN; Oesterreich, Steffi S; Lee, Adrian V AV
Publication Date: 2019-02-08

Variant appearance in text: RB1: K715*
PubMed Link: 30736836
Variant Present in the following documents:
  • 13058_2019_1102_MOESM2_ESM.xlsx, sheet 1
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: K715*
PubMed Link: 30224629
Variant Present in the following documents:
  • 41467_2018_6162_MOESM13_ESM.xlsx, sheet 1
View BVdb publication page



Circulating tumor DNA analysis depicts subclonal architecture and genomic evolution of small cell lung cancer.

Nature Communications
Nong, Jingying J; Gong, Yuhua Y; Guan, Yanfang Y; Yi, Xin X; Yi, Yuting Y; Chang, Lianpeng L; Yang, Ling L; Lv, Jialin J; Guo, Zhirong Z; Jia, Hongyan H; Chu, Yuxing Y; Liu, Tao T; Chen, Ming M; Byers, Lauren L; Roarty, Emily E; Lam, Vincent K VK; Papadimitrakopoulou, Vassiliki A VA; Wistuba, Ignacio I; Heymach, John V JV; Glisson, Bonnie B; Liao, Zhongxing Z; Lee, J Jack JJ; Futreal, P Andrew PA; Zhang, Shucai S; Xia, Xuefeng X; Zhang, Jianjun J; Wang, Jinghui J
Publication Date: 2018-08-06

Variant appearance in text: RB1: 2143A>T; K715*
PubMed Link: 30082701
Variant Present in the following documents:
  • 41467_2018_5327_MOESM9_ESM.xlsx, sheet 1
  • 41467_2018_5327_MOESM6_ESM.xlsx, sheet 1
  • 41467_2018_5327_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Olaparib is effective in combination with, and as maintenance therapy after, first-line endocrine therapy in prostate cancer cells.

Molecular Oncology
Feiersinger, Gertrud E GE; Trattnig, Kristina K; Leitner, Peter D PD; Guggenberger, Fabian F; Oberhuber, Alexander A; Peer, Sarah S; Hermann, Martin M; Skvortsova, Ira I; Vrbkova, Jana J; Bouchal, Jan J; Culig, Zoran Z; Santer, Frédéric R FR
Publication Date: 2018-04

Variant appearance in text: RB1: 2143A>T; K715*
PubMed Link: 29465803
Variant Present in the following documents:
  • MOL2-12-561-s006.xlsx, sheet 7
View BVdb publication page



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: 2143A>T; K715*
PubMed Link: 28775315
Variant Present in the following documents:
  • 41467_2017_289_MOESM7_ESM.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: 2143A>T; K715*
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



p27T187A knockin identifies Skp2/Cks1 pocket inhibitors for advanced prostate cancer.

Oncogene
Zhao, H H; Lu, Z Z; Bauzon, F F; Fu, H H; Cui, J J; Locker, J J; Zhu, L L
Publication Date: 2017-01-05

Variant appearance in text: RB1: K715*
PubMed Link: 27181203
Variant Present in the following documents:
  • Main text
View BVdb publication page



NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014

Variant appearance in text: RB1: K715X
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s001.xlsx, sheet 1
View BVdb publication page



Mutation analysis of 24 known cancer genes in the NCI-60 cell line set.

Molecular Cancer Therapeutics
Ikediobi, Ogechi N ON; Davies, Helen H; Bignell, Graham G; Edkins, Sarah S; Stevens, Claire C; O'Meara, Sarah S; Santarius, Thomas T; Avis, Tim T; Barthorpe, Syd S; Brackenbury, Lisa L; Buck, Gemma G; Butler, Adam A; Clements, Jody J; Cole, Jennifer J; Dicks, Ed E; Forbes, Simon S; Gray, Kristian K; Halliday, Kelly K; Harrison, Rachel R; Hills, Katy K; Hinton, Jonathan J; Hunter, Chris C; Jenkinson, Andy A; Jones, David D; Kosmidou, Vivienne V; Lugg, Richard R; Menzies, Andrew A; Mironenko, Tatiana T; Parker, Adrian A; Perry, Janet J; Raine, Keiran K; Richardson, David D; Shepherd, Rebecca R; Small, Alex A; Smith, Raffaella R; Solomon, Helen H; Stephens, Philip P; Teague, Jon J; Tofts, Calli C; Varian, Jennifer J; Webb, Tony T; West, Sofie S; Widaa, Sara S; Yates, Andy A; Reinhold, William W; Weinstein, John N JN; Stratton, Michael R MR; Futreal, P Andrew PA; Wooster, Richard R
Publication Date: 2006-11

Variant appearance in text: RB1: 2143A>T; K715X
PubMed Link: 17088437
Variant Present in the following documents:
  • Main text
View BVdb publication page