RB1 c.1172C>A ;(p.S391*)

Variant ID: 13-48947585-C-A

NM_000321.2(RB1):c.1172C>A;(p.S391*)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Profiling Receptor Tyrosine Kinase Fusions in Chinese Breast Cancers.

Frontiers In Oncology
Tao, Zhonghua Z; Liu, Jianxia J; Li, Ting T; Xu, Hong H; Chen, Kai K; Zhang, Jian J; Zhou, Hao H; Sun, Jie J; Han, Jinming J; Guo, Zhaoji Z; Yang, Hua H; Cao, Wen-Ming WM; Hu, Xichun X
Publication Date: 2021

Variant appearance in text: RB1: 1172C>A; Ser391*
PubMed Link: 34650924
Variant Present in the following documents:
  • DataSheet_1.xlsx, sheet 1
View BVdb publication page



Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.

Cancer Medicine
Sivapiragasam, Abirami A; Ashok Kumar, Prashanth P; Sokol, Ethan S ES; Albacker, Lee A LA; Killian, Jonathan K JK; Ramkissoon, Shakti H SH; Huang, Richard S P RSP; Severson, Eric A EA; Brown, Charlotte A CA; Danziger, Natalie N; McGregor, Kimberly K; Ross, Jeffrey S JS
Publication Date: 2021-01

Variant appearance in text: RB1: S391*
PubMed Link: 33314633
Variant Present in the following documents:
  • CAM4-10-53-s003.xlsx, sheet 1
View BVdb publication page



Distinct mutation profiles between primary bladder cancer and circulating tumor cells warrant the use of circulating tumors cells as cellular resource for mutation follow-up.

Bmc Cancer
Kim, Tae-Min TM; Yoo, Jin-Seon JS; Moon, Hyong Woo HW; Hur, Kyung Jae KJ; Choi, Jin Bong JB; Hong, Sung-Hoo SH; Lee, Ji Youl JY; Ha, U-Syn US
Publication Date: 2020-12-07

Variant appearance in text: RB1: S391X
PubMed Link: 33287735
Variant Present in the following documents:
  • 12885_2020_7684_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Identification of relevant genetic alterations in cancer using topological data analysis.

Nature Communications
Rabadán, Raúl R; Mohamedi, Yamina Y; Rubin, Udi U; Chu, Tim T; Alghalith, Adam N AN; Elliott, Oliver O; Arnés, Luis L; Cal, Santiago S; Obaya, Álvaro J ÁJ; Levine, Arnold J AJ; Cámara, Pablo G PG
Publication Date: 2020-07-30

Variant appearance in text: RB1: S391*
PubMed Link: 32732999
Variant Present in the following documents:
  • 41467_2020_17659_MOESM3_ESM.xls, sheet 1
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: RB1: S391*
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



A model combining clinical and genomic factors to predict response to PD-1/PD-L1 blockade in advanced urothelial carcinoma.

British Journal Of Cancer
Nassar, Amin H AH; Mouw, Kent W KW; Jegede, Opeyemi O; Shinagare, Atul B AB; Kim, Jaegil J; Liu, Chia-Jen CJ; Pomerantz, Mark M; Harshman, Lauren C LC; Van Allen, Eliezer M EM; Wei, Xiao X XX; McGregor, Bradley B; Choudhury, Atish D AD; Preston, Mark A MA; Dong, Fei F; Signoretti, Sabina S; Lindeman, Neal I NI; Bellmunt, Joaquim J; Choueiri, Toni K TK; Sonpavde, Guru G; Kwiatkowski, David J DJ
Publication Date: 2020-02

Variant appearance in text: RB1: 1172C>A; S391*
PubMed Link: 31857723
Variant Present in the following documents:
  • 41416_2019_686_MOESM1_ESM.xlsx, sheet 14
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: 1172C>A; Ser391*
PubMed Link: 30981987
Variant Present in the following documents:
  • jmedgenet-2018-105825supp002.xlsx, sheet 4
View BVdb publication page



Predicting clinical benefit from everolimus in patients with advanced solid tumors, the CPCT-03 study.

Oncotarget
Weeber, Fleur F; Cirkel, Geert A GA; Hoogstraat, Marlous M; Bins, Sander S; Gadellaa-van Hooijdonk, Christa G M CGM; Ooft, Salo S; van Werkhoven, Erik E; Willems, Stefan M SM; van Stralen, Marijn M; Veldhuis, Wouter B WB; Besselink, Nicolle J M NJM; Horlings, Hugo M HM; Steeghs, Neeltje N; de Jonge, Maja J MJ; Langenberg, Marlies H G MHG; Wessels, Lodewyk F A LFA; Cuppen, Edwin P J G EPJG; Schellens, J H JH; Sleijfer, Stefan S; Lolkema, Martijn P MP; Voest, Emile E EE
Publication Date: 2017-08-15

Variant appearance in text: RB1: S391*
PubMed Link: 28903445
Variant Present in the following documents:
  • oncotarget-08-55582-s002.xlsx, sheet 1
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: Ser391Ter
PubMed Link: 28775315
Variant Present in the following documents:
  • 41467_2017_289_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Meta-Analysis of the Luminal and Basal Subtypes of Bladder Cancer and the Identification of Signature Immunohistochemical Markers for Clinical Use.

Ebiomedicine
Dadhania, Vipulkumar V; Zhang, Miao M; Zhang, Li L; Bondaruk, Jolanta J; Majewski, Tadeusz T; Siefker-Radtke, Arlene A; Guo, Charles C CC; Dinney, Colin C; Cogdell, David E DE; Zhang, Shizhen S; Lee, Sangkyou S; Lee, June G JG; Weinstein, John N JN; Baggerly, Keith K; McConkey, David D; Czerniak, Bogdan B
Publication Date: 2016-10

Variant appearance in text: RB1: S391X
PubMed Link: 27612592
Variant Present in the following documents:
  • mmc6.xlsx, sheet 1
View BVdb publication page