RB1 c.2330del ;(p.P777Lfs*33)

Variant ID: 13-49039340-GC-G

NM_000321.2(RB1):c.2330del;(p.P777Lfs*33)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Persistent mutation burden drives sustained anti-tumor immune responses.

Nature Medicine
Niknafs, Noushin N; Balan, Archana A; Cherry, Christopher C; Hummelink, Karlijn K; Monkhorst, Kim K; Shao, Xiaoshan M XM; Belcaid, Zineb Z; Marrone, Kristen A KA; Murray, Joseph J; Smith, Kellie N KN; Levy, Benjamin B; Feliciano, Josephine J; Hann, Christine L CL; Lam, Vincent V; Pardoll, Drew M DM; Karchin, Rachel R; Seiwert, Tanguy Y TY; Brahmer, Julie R JR; Forde, Patrick M PM; Velculescu, Victor E VE; Anagnostou, Valsamo V
Publication Date: 2023-01-26

Variant appearance in text: RB1: P777Lfs*33
PubMed Link: 36702947
Variant Present in the following documents:
  • 41591_2022_2163_MOESM3_ESM.xlsx, sheet 14
View BVdb publication page



Rb Tumor Suppressor in Small Cell Lung Cancer: Combined Genomic and IHC Analysis with a Description of a Distinct Rb-Proficient Subset.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Febres-Aldana, Christopher A CA; Chang, Jason C JC; Ptashkin, Ryan R; Wang, Yuhan Y; Gedvilaite, Erika E; Baine, Marina K MK; Travis, William D WD; Ventura, Katia K; Bodd, Francis F; Yu, Helena A HA; Quintanal-Villalonga, Alvaro A; Lai, W Victoria WV; Egger, Jacklynn V JV; Offin, Michael M; Ladanyi, Marc M; Rudin, Charles M CM; Rekhtman, Natasha N
Publication Date: 2022-11-01

Variant appearance in text: RB1: 2330delC; P777Lfs*33
PubMed Link: 35792876
Variant Present in the following documents:
  • ccr-22-1115_supplementary_tables_1_suppts1.xlsx, sheet 6
View BVdb publication page



The RB1 Mutation Spectrum and Genetic Management Consultation in Pediatric Patients with Retinoblastoma in Beijing, China.

Risk Management And Healthcare Policy
Xie, Ying Y; Xu, Xiao-Lin XL; Wei, Wen-Bin WB
Publication Date: 2021

Variant appearance in text: RB1: 2326delC; P777Lfs*33
PubMed Link: 34456592
Variant Present in the following documents:
  • Main text
  • rmhp-14-3453.pdf
View BVdb publication page



Extreme responses to immune checkpoint blockade following bipolar androgen therapy and enzalutamide in patients with metastatic castration resistant prostate cancer.

The Prostate
Markowski, Mark C MC; Shenderov, Eugene E; Eisenberger, Mario A MA; Kachhap, Sushant S; Pardoll, Drew M DM; Denmeade, Samuel R SR; Antonarakis, Emmanuel S ES
Publication Date: 2020-04

Variant appearance in text: RB1: P777Lfs*33
PubMed Link: 31972048
Variant Present in the following documents:
  • Main text
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: N/A
PubMed Link: 30224629
Variant Present in the following documents:
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: P777Lfs*33
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
View BVdb publication page



Genetic changes of non-small cell lung cancer under neoadjuvant therapy.

Oncotarget
Warth, Arne A; Endris, Volker V; Stenzinger, Albrecht A; Penzel, Roland R; Harms, Alexander A; Duell, Thomas T; Abdollahi, Amir A; Lindner, Michael M; Schirmacher, Peter P; Muley, Thomas T; Dienemann, Hendrik H; Fink, Ludger L; Morresi-Hauf, Alicia A; Pfarr, Nicole N; Weichert, Wilko W
Publication Date: 2016-05-17

Variant appearance in text: RB1: 2326delC; Pro777fs*33
PubMed Link: 27105513
Variant Present in the following documents:
  • oncotarget-07-29761-s002.xlsx, sheet 1
View BVdb publication page



Genomic Landscape Survey Identifies SRSF1 as a Key Oncodriver in Small Cell Lung Cancer.

Plos Genetics
Jiang, Liyan L; Huang, Jiaqi J; Higgs, Brandon W BW; Hu, Zhibin Z; Xiao, Zhan Z; Yao, Xin X; Conley, Sarah S; Zhong, Haihong H; Liu, Zheng Z; Brohawn, Philip P; Shen, Dong D; Wu, Song S; Ge, Xiaoxiao X; Jiang, Yue Y; Zhao, Yizhuo Y; Lou, Yuqing Y; Morehouse, Chris C; Zhu, Wei W; Sebastian, Yinong Y; Czapiga, Meggan M; Oganesyan, Vaheh V; Fu, Haihua H; Niu, Yanjie Y; Zhang, Wei W; Streicher, Katie K; Tice, David D; Zhao, Heng H; Zhu, Meng M; Xu, Lin L; Herbst, Ronald R; Su, Xinying X; Gu, Yi Y; Li, Shyoung S; Huang, Lihua L; Gu, Jianren J; Han, Baohui B; Jallal, Bahija B; Shen, Hongbing H; Yao, Yihong Y
Publication Date: 2016-04

Variant appearance in text: RB1: 2330delC; P777fs
PubMed Link: 27093186
Variant Present in the following documents:
  • pgen.1005895.s019.xlsx, sheet 1
View BVdb publication page