RB1 c.2042G>A ;(p.W681*)

Variant ID: 13-49033905-G-A

NM_000321.2(RB1):c.2042G>A;(p.W681*)

This variant was identified in 13 publications

View GRCh38 version.




Publications:


Five novel RB1 gene mutations and genotype-phenotype correlations in Chinese children with retinoblastoma.

International Ophthalmology
Li, Luting L; Li, Haibo H; Zhang, Jing J; Gan, Hairun H; Liu, Ruihong R; Hu, Xinyan X; Pang, Pengfei P; Li, Bing B
Publication Date: 2022-11

Variant appearance in text: RB1: 2042G>A; Trp681*
PubMed Link: 35960463
Variant Present in the following documents:
  • Main text
  • 10792_2022_Article_2341.pdf
View BVdb publication page



A Custom DNA-Based NGS Panel for the Molecular Characterization of Patients With Diffuse Gliomas: Diagnostic and Therapeutic Applications.

Frontiers In Oncology
Tirrò, Elena E; Massimino, Michele M; Broggi, Giuseppe G; Romano, Chiara C; Minasi, Simone S; Gianno, Francesca F; Antonelli, Manila M; Motta, Gianmarco G; Certo, Francesco F; Altieri, Roberto R; Manzella, Livia L; Caltabiano, Rosario R; Barbagallo, Giuseppe Maria Vincenzo GMV; Buttarelli, Francesca Romana FR; Magro, Gaetano G; Giangaspero, Felice F; Vigneri, Paolo P
Publication Date: 2022

Variant appearance in text: RB1: Trp681Ter
PubMed Link: 35372034
Variant Present in the following documents:
  • Table_4.xlsx, 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: 2042G>A; W681*
PubMed Link: 35273153
Variant Present in the following documents:
  • 41467_2022_28840_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Base editing sensor libraries for high-throughput engineering and functional analysis of cancer-associated single nucleotide variants.

Nature Biotechnology
Sánchez-Rivera, Francisco J FJ; Diaz, Bianca J BJ; Kastenhuber, Edward R ER; Schmidt, Henri H; Katti, Alyna A; Kennedy, Margaret M; Tem, Vincent V; Ho, Yu-Jui YJ; Leibold, Josef J; Paffenholz, Stella V SV; Barriga, Francisco M FM; Chu, Kevan K; Goswami, Sukanya S; Wuest, Alexandra N AN; Simon, Janelle M JM; Tsanov, Kaloyan M KM; Chakravarty, Debyani D; Zhang, Hongxin H; Leslie, Christina S CS; Lowe, Scott W SW; Dow, Lukas E LE
Publication Date: 2022-06

Variant appearance in text: RB1: W681*
PubMed Link: 35165384
Variant Present in the following documents:
  • NIHMS1760571-supplement-Supplementary_Table_S2.xlsx, sheet 4
  • NIHMS1760571-supplement-Supplementary_Table_S7.xlsx, sheet 5
  • NIHMS1760571-supplement-Supplementary_Table_S2.xlsx, sheet 6
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Systematic Review of Molecular Biomarkers Predictive of Resistance to CDK4/6 Inhibition in Metastatic Breast Cancer.

Jco Precision Oncology
Asghar, Uzma S US; Kanani, Ruhi R; Roylance, Rebecca R; Mittnacht, Sibylle S
Publication Date: 2022-01

Variant appearance in text: RB1: W681X
PubMed Link: 35005994
Variant Present in the following documents:
  • po-6-e2100002.pdf
View BVdb publication page



In-depth molecular analysis of combined and co-primary pulmonary large cell neuroendocrine carcinoma and adenocarcinoma.

International Journal Of Cancer
Hermans, Bregtje C M BCM; Derks, Jules L JL; Hillen, Lisa M LM; van der Baan, Irene I; van den Broek, Esther C EC; von der Thüsen, Jan H JH; van Suylen, Robert-Jan RJ; Atmodimedjo, Peggy N PN; den Toom, T Dorine TD; Coumans-Stallinga, Cecile C; Timens, Wim W; Dinjens, Winand N M WNM; Dubbink, Hendrikus J HJ; Speel, Ernst-Jan M EM; Dingemans, Anne-Marie C AC; ,
Publication Date: 2022-03-01

Variant appearance in text: RB1: 2042G>A; W681*
PubMed Link: 34674268
Variant Present in the following documents:
  • IJC-150-802-s001.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: 2042G>A; W681*
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Specific TP53 subtype as biomarker for immune checkpoint inhibitors in lung adenocarcinoma.

Ebiomedicine
Sun, Hao H; Liu, Si-Yang SY; Zhou, Jia-Ying JY; Xu, Jin-Tian JT; Zhang, Huang-Kai HK; Yan, Hong-Hong HH; Huan, Jiao-Jiao JJ; Dai, Ping-Ping PP; Xu, Chong-Rui CR; Su, Jian J; Guan, Yan-Fang YF; Yi, Xin X; Yu, Rong-Shan RS; Zhong, Wen-Zhao WZ; Wu, Yi-Long YL
Publication Date: 2020-10

Variant appearance in text: RB1: W681*
PubMed Link: 32927274
Variant Present in the following documents:
  • mmc2.xlsx, sheet 3
View BVdb publication page



High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants.

Nature Medicine
Razavi, Pedram P; Li, Bob T BT; Brown, David N DN; Jung, Byoungsok B; Hubbell, Earl E; Shen, Ronglai R; Abida, Wassim W; Juluru, Krishna K; De Bruijn, Ino I; Hou, Chenlu C; Venn, Oliver O; Lim, Raymond R; Anand, Aseem A; Maddala, Tara T; Gnerre, Sante S; Vijaya Satya, Ravi R; Liu, Qinwen Q; Shen, Ling L; Eattock, Nicholas N; Yue, Jeanne J; Blocker, Alexander W AW; Lee, Mark M; Sehnert, Amy A; Xu, Hui H; Hall, Megan P MP; Santiago-Zayas, Angie A; Novotny, William F WF; Isbell, James M JM; Rusch, Valerie W VW; Plitas, George G; Heerdt, Alexandra S AS; Ladanyi, Marc M; Hyman, David M DM; Jones, David R DR; Morrow, Monica M; Riely, Gregory J GJ; Scher, Howard I HI; Rudin, Charles M CM; Robson, Mark E ME; Diaz, Luis A LA; Solit, David B DB; Aravanis, Alexander M AM; Reis-Filho, Jorge S JS
Publication Date: 2019-12

Variant appearance in text: RB1: 2042G>A; W681*
PubMed Link: 31768066
Variant Present in the following documents:
  • NIHMS1541314-supplement-1541314_Sup_Tab.xlsx, sheet 6
View BVdb publication page



Comprehensive genomic profiling of small cell lung cancer in Chinese patients and the implications for therapeutic potential.

Cancer Medicine
Hu, Jing J; Wang, Yu Y; Zhang, Yuan Y; Yu, Yanfei Y; Chen, Hui H; Liu, Kuai K; Yao, Ming M; Wang, Kai K; Gu, Weiguang W; Shou, Tao T
Publication Date: 2019-08

Variant appearance in text: RB1: W681*
PubMed Link: 31199602
Variant Present in the following documents:
  • Main text
  • CAM4-8-4338.pdf
View BVdb publication page



Genomic Features of Response to Combination Immunotherapy in Patients with Advanced Non-Small-Cell Lung Cancer.

Cancer Cell
Hellmann, Matthew D MD; Nathanson, Tavi T; Rizvi, Hira H; Creelan, Benjamin C BC; Sanchez-Vega, Francisco F; Ahuja, Arun A; Ni, Ai A; Novik, Jacki B JB; Mangarin, Levi M B LMB; Abu-Akeel, Mohsen M; Liu, Cailian C; Sauter, Jennifer L JL; Rekhtman, Natasha N; Chang, Eliza E; Callahan, Margaret K MK; Chaft, Jamie E JE; Voss, Martin H MH; Tenet, Megan M; Li, Xue-Mei XM; Covello, Kelly K; Renninger, Andrea A; Vitazka, Patrik P; Geese, William J WJ; Borghaei, Hossein H; Rudin, Charles M CM; Antonia, Scott J SJ; Swanton, Charles C; Hammerbacher, Jeff J; Merghoub, Taha T; McGranahan, Nicholas N; Snyder, Alexandra A; Wolchok, Jedd D JD
Publication Date: 2018-05-14

Variant appearance in text: RB1: W681*
PubMed Link: 29657128
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



RB1 gene inactivation by chromothripsis in human retinoblastoma.

Oncotarget
McEvoy, Justina J; Nagahawatte, Panduka P; Finkelstein, David D; Richards-Yutz, Jennifer J; Valentine, Marcus M; Ma, Jing J; Mullighan, Charles C; Song, Guangchun G; Chen, Xiang X; Wilson, Matthew M; Brennan, Rachel R; Pounds, Stanley S; Becksfort, Jared J; Huether, Robert R; Lu, Charles C; Fulton, Robert S RS; Fulton, Lucinda L LL; Hong, Xin X; Dooling, David J DJ; Ochoa, Kerri K; Mardis, Elaine R ER; Wilson, Richard K RK; Easton, John J; Zhang, Jinghui J; Downing, James R JR; Ganguly, Arupa A; Dyer, Michael A MA
Publication Date: 2014-01-30

Variant appearance in text: RB1: W681*
PubMed Link: 24509483
Variant Present in the following documents:
  • oncotarget-05-438-s002.xlsx, sheet 9
View BVdb publication page



Molecular karyotype of sporadic unilateral retinoblastoma tumors.

Retina (Philadelphia, Pa.)
Ganguly, Arupa A; Nichols, Kim E KE; Grant, Gregory G; Rappaport, Eric E; Shields, Carol C
Publication Date: 2009

Variant appearance in text: RB1: W681X
PubMed Link: 19491728
Variant Present in the following documents:
  • Main text
View BVdb publication page