RB1 c.2174dup ;(p.T726Nfs*25)

Variant ID: 13-49037933-G-GT

NM_000321.2(RB1):c.2174dup;(p.T726Nfs*25)

This variant was identified in 4 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: 2174dup; T726Nfs*25
PubMed Link: 36862804
Variant Present in the following documents:
  • cd-22-0966_supplementary_tables_s1-s11_suppst1.xlsx, sheet 6
View BVdb publication page



Multi-region exome sequencing reveals the intratumoral heterogeneity of surgically resected small cell lung cancer.

Nature Communications
Zhou, Huaqiang H; Hu, Yi Y; Luo, Rongzhen R; Zhao, Yuanyuan Y; Pan, Hui H; Ji, Liyan L; Zhou, Ting T; Zhang, Lanjun L; Long, Hao H; Fu, Jianhua J; Wen, Zhesheng Z; Wang, Siyu S; Wang, Xin X; Lin, Peng P; Yang, Haoxian H; Wang, Junye J; Song, Mengmeng M; Yi, Xin X; Yang, Ling L; Xia, Xuefang X; Guan, Yanfang Y; Fang, Wenfeng W; Yang, Yunpeng Y; Hong, Shaodong S; Huang, Yan Y; Li, Pansong P; Zhang, Yaxiong Y; Zhou, Ningning N
Publication Date: 2021-09-14

Variant appearance in text: RB1: 2174dup; T726Nfs*25
PubMed Link: 34521849
Variant Present in the following documents:
  • 41467_2021_25787_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



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: 2174dupT
PubMed Link: 27155049
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: 2173_2174insT
PubMed Link: 25712084
Variant Present in the following documents:
  • Main text
View BVdb publication page