RB1 c.233G>A ;(p.W78*)

Variant ID: 13-48881511-G-A

NM_000321.2(RB1):c.233G>A;(p.W78*)

This variant was identified in 14 publications

View GRCh38 version.




Publications:


Etiology of oncogenic fusions in 5,190 childhood cancers and its clinical and therapeutic implication.

Nature Communications
Liu, Yanling Y; Klein, Jonathon J; Bajpai, Richa R; Dong, Li L; Tran, Quang Q; Kolekar, Pandurang P; Smith, Jenny L JL; Ries, Rhonda E RE; Huang, Benjamin J BJ; Wang, Yi-Cheng YC; Alonzo, Todd A TA; Tian, Liqing L; Mulder, Heather L HL; Shaw, Timothy I TI; Ma, Jing J; Walsh, Michael P MP; Song, Guangchun G; Westover, Tamara T; Autry, Robert J RJ; Gout, Alexander M AM; Wheeler, David A DA; Wan, Shibiao S; Wu, Gang G; Yang, Jun J JJ; Evans, William E WE; Loh, Mignon M; Easton, John J; Zhang, Jinghui J; Klco, Jeffery M JM; Meshinchi, Soheil S; Brown, Patrick A PA; Pruett-Miller, Shondra M SM; Ma, Xiaotu X
Publication Date: 2023-04-05

Variant appearance in text: RB1: W78*
PubMed Link: 37019972
Variant Present in the following documents:
  • 41467_2023_37438_MOESM2_ESM.pdf
  • 41467_2023_37438_MOESM1_ESM.pdf
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: 233G>A; W78*
PubMed Link: 35792876
Variant Present in the following documents:
  • ccr-22-1115_supplementary_tables_1_suppts1.xlsx, sheet 6
View BVdb publication page



Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.

Nature Communications
Gounder, Mrinal M MM; Agaram, Narasimhan P NP; Trabucco, Sally E SE; Robinson, Victoria V; Ferraro, Richard A RA; Millis, Sherri Z SZ; Krishnan, Anita A; Lee, Jessica J; Attia, Steven S; Abida, Wassim W; Drilon, Alexander A; Chi, Ping P; Angelo, Sandra P D' SP; Dickson, Mark A MA; Keohan, Mary Lou ML; Kelly, Ciara M CM; Agulnik, Mark M; Chawla, Sant P SP; Choy, Edwin E; Chugh, Rashmi R; Meyer, Christian F CF; Myer, Parvathi A PA; Moore, Jessica L JL; Okimoto, Ross A RA; Pollock, Raphael E RE; Ravi, Vinod V; Singh, Arun S AS; Somaiah, Neeta N; Wagner, Andrew J AJ; Healey, John H JH; Frampton, Garrett M GM; Venstrom, Jeffrey M JM; Ross, Jeffrey S JS; Ladanyi, Marc M; Singer, Samuel S; Brennan, Murray F MF; Schwartz, Gary K GK; Lazar, Alexander J AJ; Thomas, David M DM; Maki, Robert G RG; Tap, William D WD; Ali, Siraj M SM; Jin, Dexter X DX
Publication Date: 2022-06-15

Variant appearance in text: RB1: W78*
PubMed Link: 35705558
Variant Present in the following documents:
  • 41467_2022_30496_MOESM2_ESM.xls, sheet 1
View BVdb publication page



Clinical and genomic features of Chinese lung cancer patients with germline mutations.

Nature Communications
Peng, Wenying W; Li, Bin B; Li, Jin J; Chang, Lianpeng L; Bai, Jing J; Yi, Yuting Y; Chen, Rongrong R; Zhang, Yanyan Y; Chen, Chen C; Pu, Xingxiang X; Jiang, Meilin M; Li, Jia J; Zhong, Rui R; Xu, Fang F; Chen, Bolin B; Xu, Li L; Wang, Ning N; Huan, Jiaojiao J; Dai, Pingping P; Guan, Yanfang Y; Yang, Ling L; Xia, Xuefeng X; Yi, Xin X; Wang, Jiayin J; Yu, Fenglei F; Wu, Lin L
Publication Date: 2022-03-10

Variant appearance in text: RB1: 233G>A; W78*
PubMed Link: 35273153
Variant Present in the following documents:
  • 41467_2022_28840_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Next-Generation Sequencing in the Diagnosis of Metastatic Lesions: Reclassification of a Glioblastoma as an Endometrial Cancer Metastasis to the Brain.

The Oncologist
Leung, Shuk On Annie SOA; Foley, Olivia O; Chapel, David D; Da Silva, Annacarolina A; Nucci, Marisa M; Muto, Michael G MG; Campos, Susana S
Publication Date: 2021-12

Variant appearance in text: RB1: W78*
PubMed Link: 34355460
Variant Present in the following documents:
  • Main text
View BVdb publication page



Retinoblastoma genetics screening and clinical management.

Bmc Medical Genomics
Gupta, Himika H; Malaichamy, Sivasankar S; Mallipatna, Ashwin A; Murugan, Sakthivel S; Jeyabalan, Nallathambi N; Suresh Babu, Vishnu V; Ghosh, Anuprita A; Ghosh, Arkasubhra A; Santhosh, Sam S; Seshagiri, Somasekar S; Ramprasad, Vedam L VL; Kumaramanickavel, Govindasamy G
Publication Date: 2021-07-22

Variant appearance in text: RB1: W78X
PubMed Link: 34294096
Variant Present in the following documents:
  • Main text
  • 12920_2021_Article_1034.pdf
View BVdb publication page



Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications
Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q
Publication Date: 2021-01-04

Variant appearance in text: RB1: 233G>A; W78*
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.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: N/A
PubMed Link: 33287735
Variant Present in the following documents:
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: W78*
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Spectrum of RB1 Germline Mutations and Clinical Features in Unrelated Chinese Patients With Retinoblastoma.

Frontiers In Genetics
Lan, Xiaoping X; Xu, Wuhen W; Tang, Xiaojun X; Ye, Haiyun H; Song, Xiaozhen X; Lin, Longlong L; Ren, Xiang X; Yu, Guangjun G; Zhang, Hong H; Wu, Shengnan S
Publication Date: 2020

Variant appearance in text: RB1: 233G>A; W78X
PubMed Link: 32218800
Variant Present in the following documents:
  • Main text
  • fgene-11-00142.pdf
View BVdb publication page



Comprehensive genomic and immunological characterization of Chinese non-small cell lung cancer patients.

Nature Communications
Zhang, Xu-Chao XC; Wang, Jun J; Shao, Guo-Guang GG; Wang, Qun Q; Qu, Xiaotao X; Wang, Bo B; Moy, Christopher C; Fan, Yue Y; Albertyn, Zayed Z; Huang, Xiayu X; Zhang, Jingyu J; Qiu, Yang Y; Platero, Suso S; Lorenzi, Matthew V MV; Zudaire, Enrique E; Yang, Jennifer J; Cheng, Ying Y; Xu, Lin L; Wu, Yi-Long YL
Publication Date: 2019-04-16

Variant appearance in text: RB1: W78*
PubMed Link: 30992440
Variant Present in the following documents:
  • 41467_2019_9762_MOESM13_ESM.xlsx, sheet 1
View BVdb publication page



The Clonal Evolution of Metastatic Osteosarcoma as Shaped by Cisplatin Treatment.

Molecular Cancer Research : Mcr
Brady, Samuel W SW; Ma, Xiaotu X; Bahrami, Armita A; Satas, Gryte G; Wu, Gang G; Newman, Scott S; Rusch, Michael M; Putnam, Daniel K DK; Mulder, Heather L HL; Yergeau, Donald A DA; Edmonson, Michael N MN; Easton, John J; Alexandrov, Ludmil B LB; Chen, Xiang X; Mardis, Elaine R ER; Wilson, Richard K RK; Downing, James R JR; Pappo, Alberto S AS; Raphael, Benjamin J BJ; Dyer, Michael A MA; Zhang, Jinghui J
Publication Date: 2019-04

Variant appearance in text: RB1: W78*
PubMed Link: 30651371
Variant Present in the following documents:
  • Main text
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: 233G>A; W78*
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: RB1: W78*
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-5.xlsx, sheet 1
  • NIHMS630249-supplement-6.xlsx, sheet 1
View BVdb publication page