RB1 c.448_450delinsTGG ;(p.R150W)

Variant ID: 13-48919283-AGA-TGG

NM_000321.2(RB1):c.448_450delinsTGG;(p.R150W)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Integrative pan-cancer genomic and transcriptomic analyses of refractory metastatic cancer.

Cancer Discovery
Pradat, Yoann Y; Viot, Julien J; Yurchenko, Andrey A AA; Gunbin, Konstantin K; Cerbone, Luigi L; Deloger, Marc M; Grisay, Guillaume G; Verlingue, Loic L; Scott, Veronique V; Padioleau, Ismael I; Panunzi, Leonardo L; Michiels, Stefan S; Hollebecque, Antoine A; Jules-Clement, Gerome G; Mezquita, Laura L; Laine, Antoine A; Loriot, Yohann Y; Besse, Benjamin B; Friboulet, Luc L; Andre, Fabrice F; Cournede, Paul-Henry PH; Gautheret, Daniel D; Nikolaev, Sergey I SI
Publication Date: 2023-03-02

Variant appearance in text: RB1: Arg150Trp
PubMed Link: 36862804
Variant Present in the following documents:
  • cd-22-0966_supplementary_tables_s1-s11_suppst1.xlsx, sheet 6
View BVdb publication page



Genomic Landscape of Head and Neck Squamous Cell Carcinoma Across Different Anatomic Sites in Chinese Population.

Frontiers In Genetics
Ju, Yunhe Y; Wu, Xingrao X; Wang, Huizhen H; Li, Bin B; Long, Qing Q; Zhang, Dadong D; Chen, Hao H; Xiao, Nianqing N; Li, Fugen F; Zhang, Shiwen S; Yang, Shenggang S
Publication Date: 2021

Variant appearance in text: RB1: R150W
PubMed Link: 34194478
Variant Present in the following documents:
  • Data_Sheet_1.xlsx, sheet 6
View BVdb publication page



Prognostic and predictive value of circulating tumor DNA during neoadjuvant chemotherapy for triple negative breast cancer.

Scientific Reports
Cavallone, Luca L; Aguilar-Mahecha, Adriana A; Lafleur, Josiane J; Brousse, Susie S; Aldamry, Mohammed M; Roseshter, Talia T; Lan, Cathy C; Alirezaie, Najmeh N; Bareke, Eric E; Majewski, Jacek J; Ferrario, Cristiano C; Hassan, Saima S; Discepola, Federico F; Seguin, Carole C; Mihalcioiu, Catalin C; Marcus, Elizabeth A EA; Robidoux, André A; Roy, Josée-Anne JA; Pelmus, Manuela M; Basik, Mark M
Publication Date: 2020-09-07

Variant appearance in text: RB1: R150W
PubMed Link: 32895401
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_71236.pdf
View BVdb publication page



Drug sensitivity testing on patient-derived sarcoma cells predicts patient response to treatment and identifies c-Sarc inhibitors as active drugs for translocation sarcomas.

British Journal Of Cancer
Brodin, Bertha A BA; Wennerberg, Krister K; Lidbrink, Elisabet E; Brosjö, Otte O; Potdar, Swapnil S; Wilson, Jennifer N JN; Ma, Limin L; Moens, Lotte N LN; Hesla, Asle A; Porovic, Edvin E; Bernhardsson, Edvin E; Papakonstantinou, Antroula A; Bauer, Henrik H; Tsagkozis, Panagiotis P; von Sivers, Karin K; Wejde, Johan J; Östling, Päivi P; Kallioniemi, Olli O; Stragliotto, Christina Linder CL
Publication Date: 2019-02

Variant appearance in text: RB1: R150W
PubMed Link: 30745580
Variant Present in the following documents:
  • Main text
  • 41416_2018_Article_359.pdf
View BVdb publication page



Genomic landscape and evolutionary trajectories of ovarian cancer precursor lesions.

The Journal Of Pathology
Wu, Ren-Chin RC; Wang, Pei P; Lin, Shiou-Fu SF; Zhang, Ming M; Song, Qianqian Q; Chu, Tiffany T; Wang, Brant G BG; Kurman, Robert J RJ; Vang, Russell R; Kinzler, Kenneth K; Tomasetti, Cristian C; Jiao, Yuchen Y; Shih, Ie-Ming IM; Wang, Tian-Li TL
Publication Date: 2019-05

Variant appearance in text: RB1: R150W
PubMed Link: 30560554
Variant Present in the following documents:
  • Main text
  • PATH-248-41.pdf
View BVdb publication page



Mutational landscape of uterine and ovarian carcinosarcomas implicates histone genes in epithelial-mesenchymal transition.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Zhao, Siming S; Bellone, Stefania S; Lopez, Salvatore S; Thakral, Durga D; Schwab, Carlton C; English, Diana P DP; Black, Jonathan J; Cocco, Emiliano E; Choi, Jungmin J; Zammataro, Luca L; Predolini, Federica F; Bonazzoli, Elena E; Bi, Mark M; Buza, Natalia N; Hui, Pei P; Wong, Serena S; Abu-Khalaf, Maysa M; Ravaggi, Antonella A; Bignotti, Eliana E; Bandiera, Elisabetta E; Romani, Chiara C; Todeschini, Paola P; Tassi, Renata R; Zanotti, Laura L; Odicino, Franco F; Pecorelli, Sergio S; Donzelli, Carla C; Ardighieri, Laura L; Facchetti, Fabio F; Falchetti, Marcella M; Silasi, Dan-Arin DA; Ratner, Elena E; Azodi, Masoud M; Schwartz, Peter E PE; Mane, Shrikant S; Angioli, Roberto R; Terranova, Corrado C; Quick, Charles Matthew CM; Edraki, Babak B; Bilgüvar, Kaya K; Lee, Moses M; Choi, Murim M; Stiegler, Amy L AL; Boggon, Titus J TJ; Schlessinger, Joseph J; Lifton, Richard P RP; Santin, Alessandro D AD
Publication Date: 2016-10-25

Variant appearance in text: RB1: R150W
PubMed Link: 27791010
Variant Present in the following documents:
  • Main text
View BVdb publication page



Somatic mutations in plasma cell-free DNA are diagnostic markers for esophageal squamous cell carcinoma recurrence.

Oncotarget
Ueda, Masami M; Iguchi, Tomohiro T; Masuda, Takaaki T; Nakahara, Yujiro Y; Hirata, Hidenari H; Uchi, Ryutaro R; Niida, Atsushi A; Momose, Kota K; Sakimura, Shotaro S; Chiba, Kenichi K; Eguchi, Hidetoshi H; Ito, Shuhei S; Sugimachi, Keishi K; Yamasaki, Makoto M; Suzuki, Yutaka Y; Miyano, Satoru S; Doki, Yuichiro Y; Mori, Masaki M; Mimori, Koshi K
Publication Date: 2016-09-20

Variant appearance in text: RB1: R150W
PubMed Link: 27556701
Variant Present in the following documents:
  • oncotarget-07-62280-s002.xlsx, sheet 1
View BVdb publication page



Amplicon sequencing of colorectal cancer: variant calling in frozen and formalin-fixed samples.

Plos One
Betge, Johannes J; Kerr, Grainne G; Miersch, Thilo T; Leible, Svenja S; Erdmann, Gerrit G; Galata, Christian L CL; Zhan, Tianzuo T; Gaiser, Timo T; Post, Stefan S; Ebert, Matthias P MP; Horisberger, Karoline K; Boutros, Michael M
Publication Date: 2015

Variant appearance in text: RB1: R150W
PubMed Link: 26010451
Variant Present in the following documents:
  • pone.0127146.s014.xlsx, sheet 3
  • pone.0127146.s013.xlsx, sheet 3
  • pone.0127146.s014.xlsx, sheet 2
View BVdb publication page