RB1 c.967G>T ;(p.E323*)

Variant ID: 13-48941657-G-T

NM_000321.2(RB1):c.967G>T;(p.E323*)

This variant was identified in 23 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: RB1: 967G>T; Glu323Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Pathologic complete response to immune checkpoint inhibitor in a stage IIIB ovarian clear cell carcinoma patient with POLE mutation resistant to platinum-based chemotherapy: a case report.

Gland Surgery
Li, Shuzhan S; Zhang, Jiali J; Du, Weijiao W; Ren, Xiubao X; Zhang, Xinwei X
Publication Date: 2022-09

Variant appearance in text: RB1: 967G>T; Glu323*
PubMed Link: 36221285
Variant Present in the following documents:
  • Main text
  • gs-11-09-1562.pdf
View BVdb publication page



Human papillomavirus integration perspective in small cell cervical carcinoma.

Nature Communications
Wang, Xiaoli X; Jia, Wenlong W; Wang, Mengyao M; Liu, Jihong J; Zhou, Xianrong X; Liang, Zhiqing Z; Zhang, Qinghua Q; Long, Sixiang S; Quzhen, Suolang S; Li, Xiangchun X; Tian, Qiang Q; Li, Xiong X; Sun, Haiying H; Zhao, Caili C; Meng, Silu S; Ning, Ruoqi R; Xi, Ling L; Wang, Lin L; Zhou, Shasha S; Zhang, Jianwei J; Wu, Li L; Chen, Yile Y; Liu, Aijun A; Ma, Yaqi Y; Zhao, Xia X; Cheng, Xiaodong X; Zhang, Qing Q; Han, Xiaobing X; Pan, Huaxiong H; Zhang, Yuan Y; Cao, Lili L; Wang, Yiqin Y; Ling, Shaoping S; Cao, Lihua L; Xing, Hui H; Xu, Chang C; Sui, Long L; Wang, Shixuan S; Zhou, Jianfeng J; Kong, Beihua B; Xie, Xing X; Chen, Gang G; Li, Shuaicheng S; Ma, Ding D; Li, Shuang S
Publication Date: 2022-10-10

Variant appearance in text: RB1: E323X
PubMed Link: 36216793
Variant Present in the following documents:
  • 41467_2022_33359_MOESM21_ESM.xlsx, sheet 1
View BVdb publication page



Response prediction and risk stratification of patients with rectal cancer after neoadjuvant therapy through an analysis of circulating tumour DNA.

Ebiomedicine
Liu, Wenyang W; Li, Yifei Y; Tang, Yuan Y; Song, Qianqian Q; Wang, Jingjing J; Li, Ning N; Chen, Silin S; Shi, Jinming J; Wang, Shulian S; Li, Yexiong Y; Jiao, Yuchen Y; Zeng, Yixin Y; Jin, Jing J
Publication Date: 2022-04

Variant appearance in text: RB1: 967G>T; Glu323Ter
PubMed Link: 35306340
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Genomic landscape of advanced endometrial cancer analyzed by targeted next-generation sequencing and the cancer genome atlas (TCGA) dataset.

Journal Of Gynecologic Oncology
Hong, Jin Hwa JH; Cho, Hyun Woong HW; Ouh, Yung-Taek YT; Lee, Jae Kwan JK; Chun, Yikyeong Y; Gim, Jeong-An JA
Publication Date: 2022-05

Variant appearance in text: RB1: 967G>T; E323*
PubMed Link: 35128859
Variant Present in the following documents:
  • jgo-33-e29-s002.xls, sheet 1
View BVdb publication page



A high-risk retinoblastoma subtype with stemness features, dedifferentiated cone states and neuronal/ganglion cell gene expression.

Nature Communications
Liu, Jing J; Ottaviani, Daniela D; Sefta, Meriem M; Desbrousses, Céline C; Chapeaublanc, Elodie E; Aschero, Rosario R; Sirab, Nanor N; Lubieniecki, Fabiana F; Lamas, Gabriela G; Tonon, Laurie L; Dehainault, Catherine C; Hua, Clément C; Fréneaux, Paul P; Reichman, Sacha S; Karboul, Narjesse N; Biton, Anne A; Mirabal-Ortega, Liliana L; Larcher, Magalie M; Brulard, Céline C; Arrufat, Sandrine S; Nicolas, André A; Elarouci, Nabila N; Popova, Tatiana T; Némati, Fariba F; Decaudin, Didier D; Gentien, David D; Baulande, Sylvain S; Mariani, Odette O; Dufour, Florent F; Guibert, Sylvain S; Vallot, Céline C; Rouic, Livia Lumbroso-Le LL; Matet, Alexandre A; Desjardins, Laurence L; Pascual-Pasto, Guillem G; Suñol, Mariona M; Catala-Mora, Jaume J; Llano, Genoveva Correa GC; Couturier, Jérôme J; Barillot, Emmanuel E; Schaiquevich, Paula P; Gauthier-Villars, Marion M; Stoppa-Lyonnet, Dominique D; Golmard, Lisa L; Houdayer, Claude C; Brisse, Hervé H; Bernard-Pierrot, Isabelle I; Letouzé, Eric E; Viari, Alain A; Saule, Simon S; Sastre-Garau, Xavier X; Doz, François F; Carcaboso, Angel M AM; Cassoux, Nathalie N; Pouponnot, Celio C; Goureau, Olivier O; Chantada, Guillermo G; de Reyniès, Aurélien A; Aerts, Isabelle I; Radvanyi, François F
Publication Date: 2021-09-22

Variant appearance in text: RB1: E323X
PubMed Link: 34552068
Variant Present in the following documents:
  • 41467_2021_25792_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



Retinoblastoma from human stem cell-derived retinal organoids.

Nature Communications
Norrie, Jackie L JL; Nityanandam, Anjana A; Lai, Karen K; Chen, Xiang X; Wilson, Matthew M; Stewart, Elizabeth E; Griffiths, Lyra L; Jin, Hongjian H; Wu, Gang G; Orr, Brent B; Tran, Quynh Q; Allen, Sariah S; Reilly, Colleen C; Zhou, Xin X; Zhang, Jiakun J; Newman, Kyle K; Johnson, Dianna D; Brennan, Rachel R; Dyer, Michael A MA
Publication Date: 2021-07-27

Variant appearance in text: RB1: Glu323*
PubMed Link: 34315877
Variant Present in the following documents:
  • 41467_2021_24781_MOESM4_ESM.xlsx, sheet 1
  • 41467_2021_24781_MOESM7_ESM.xlsx, sheet 2
View BVdb publication page



Landscape of somatic single nucleotide variants and indels in colorectal cancer and impact on survival.

Nature Communications
Zaidi, Syed H SH; Harrison, Tabitha A TA; Phipps, Amanda I AI; Steinfelder, Robert R; Trinh, Quang M QM; Qu, Conghui C; Banbury, Barbara L BL; Georgeson, Peter P; Grasso, Catherine S CS; Giannakis, Marios M; Adams, Jeremy B JB; Alwers, Elizabeth E; Amitay, Efrat L EL; Barfield, Richard T RT; Berndt, Sonja I SI; Borozan, Ivan I; Brenner, Hermann H; Brezina, Stefanie S; Buchanan, Daniel D DD; Cao, Yin Y; Chan, Andrew T AT; Chang-Claude, Jenny J; Connolly, Charles M CM; Drew, David A DA; Farris, Alton Brad AB; Figueiredo, Jane C JC; French, Amy J AJ; Fuchs, Charles S CS; Garraway, Levi A LA; Gruber, Steve S; Guinter, Mark A MA; Hamilton, Stanley R SR; Harlid, Sophia S; Heisler, Lawrence E LE; Hidaka, Akihisa A; Hopper, John L JL; Huang, Wen-Yi WY; Huyghe, Jeroen R JR; Jenkins, Mark A MA; Krzyzanowski, Paul M PM; Lemire, Mathieu M; Lin, Yi Y; Luo, Xuemei X; Mardis, Elaine R ER; McPherson, John D JD; Miller, Jessica K JK; Moreno, Victor V; Mu, Xinmeng Jasmine XJ; Nishihara, Reiko R; Papadopoulos, Nickolas N; Pasternack, Danielle D; Quist, Michael J MJ; Rafikova, Adilya A; Reid, Emma E G EEG; Shinbrot, Eve E; Shirts, Brian H BH; Stein, Lincoln D LD; Teney, Cherie D CD; Timms, Lee L; Um, Caroline Y CY; Van Guelpen, Bethany B; Van Tassel, Megan M; Wang, Xiaolong X; Wheeler, David A DA; Yung, Christina K CK; Hsu, Li L; Ogino, Shuji S; Gsur, Andrea A; Newcomb, Polly A PA; Gallinger, Steven S; Hoffmeister, Michael M; Campbell, Peter T PT; Thibodeau, Stephen N SN; Sun, Wei W; Hudson, Thomas J TJ; Peters, Ulrike U
Publication Date: 2020-07-20

Variant appearance in text: RB1: E323X
PubMed Link: 32686686
Variant Present in the following documents:
  • 41467_2020_17386_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Characterization of colibactin-associated mutational signature in an Asian oral squamous cell carcinoma and in other mucosal tumor types.

Genome Research
Boot, Arnoud A; Ng, Alvin W T AWT; Chong, Fui Teen FT; Ho, Szu-Chi SC; Yu, Willie W; Tan, Daniel S W DSW; Iyer, N Gopalakrishna NG; Rozen, Steven G SG
Publication Date: 2020-06

Variant appearance in text: RB1: E323X
PubMed Link: 32661091
Variant Present in the following documents:
  • supp_gr.255620.119_Supplemental_Table_S2.xlsx, sheet 1
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: 967G>T; E323X
PubMed Link: 32218800
Variant Present in the following documents:
  • Main text
  • fgene-11-00142.pdf
View BVdb publication page



Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology
Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M
Publication Date: 2020-01-07

Variant appearance in text: RB1: 967G>T; E323*
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Inotuzumab ozogamicin as chemotherapy-sparing salvage in a 67-year-old man with primary refractory B-cell acute lymphoblastic leukemia with high-risk genomic features.

Leukemia Research Reports
Yang, Xiaochuan X; Sen, Filiz F; Geyer, Mark B MB
Publication Date: 2019

Variant appearance in text: RB1: E323*
PubMed Link: 31867204
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature
Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E
Publication Date: 2019-11

Variant appearance in text: RB1: Glu323*
PubMed Link: 31645765
Variant Present in the following documents:
  • 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine
Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A
Publication Date: 2019-06-28

Variant appearance in text: RB1: E323*
PubMed Link: 31253177
Variant Present in the following documents:
  • 13073_2019_654_MOESM2_ESM.xlsx, sheet 21
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: 967G>T; Glu323*
PubMed Link: 30981987
Variant Present in the following documents:
  • jmedgenet-2018-105825supp002.xlsx, sheet 4
View BVdb publication page



Genomic alterations in gastric cancers discovered via whole-exome sequencing.

Bmc Cancer
Zhang, Jie J; Qiu, Weiqing W; Liu, Hua H; Qian, Changlin C; Liu, Dujuan D; Wang, Hailong H; Hu, Ni N; Tang, Y Tom YT; Sun, Jianhua J; Shen, Zhiyong Z
Publication Date: 2018-12-19

Variant appearance in text: RB1: E323X
PubMed Link: 30567531
Variant Present in the following documents:
  • 12885_2018_5097_MOESM2_ESM.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: 967G>T; E323*
PubMed Link: 28775315
Variant Present in the following documents:
  • 41467_2017_289_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



NeoPalAna: Neoadjuvant Palbociclib, a Cyclin-Dependent Kinase 4/6 Inhibitor, and Anastrozole for Clinical Stage 2 or 3 Estrogen Receptor-Positive Breast Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Ma, Cynthia X CX; Gao, Feng F; Luo, Jingqin J; Northfelt, Donald W DW; Goetz, Matthew M; Forero, Andres A; Hoog, Jeremy J; Naughton, Michael M; Ademuyiwa, Foluso F; Suresh, Rama R; Anderson, Karen S KS; Margenthaler, Julie J; Aft, Rebecca R; Hobday, Timothy T; Moynihan, Timothy T; Gillanders, William W; Cyr, Amy A; Eberlein, Timothy J TJ; Hieken, Tina T; Krontiras, Helen H; Guo, Zhanfang Z; Lee, Michelle V MV; Spies, Nicholas C NC; Skidmore, Zachary L ZL; Griffith, Obi L OL; Griffith, Malachi M; Thomas, Shana S; Bumb, Caroline C; Vij, Kiran K; Bartlett, Cynthia Huang CH; Koehler, Maria M; Al-Kateb, Hussam H; Sanati, Souzan S; Ellis, Matthew J MJ
Publication Date: 2017-08-01

Variant appearance in text: N/A
PubMed Link: 28270497
Variant Present in the following documents:
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: 967G>T; E323*
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Alterations in the RB1 gene in Pakistani patients with retinoblastoma using direct sequencing analysis.

Molecular Vision
Kalsoom, Saeeda S; Wasim, Muhammad M; Afzal, Sibtain S; Shahzad, Muhammad Saqib MS; Ramzan, Shaiqa S; Awan, Ali Raza AR; Anjum, Aftab Ahmed AA; Ramzan, Khushnooda K
Publication Date: 2015

Variant appearance in text: RB1: 967G>T; Glu323*
PubMed Link: 26396485
Variant Present in the following documents:
  • Main text
  • mv-v21-1085.pdf
View BVdb publication page



Characterization of the genomic architecture and mutational spectrum of a small cell prostate carcinoma.

Genes
Scott, Alan F AF; Mohr, David W DW; Ling, Hua H; Scharpf, Robert B RB; Zhang, Peng P; Liptak, Gregory S GS
Publication Date: 2014-05-12

Variant appearance in text: RB1: E323*
PubMed Link: 24823478
Variant Present in the following documents:
  • Main text
View BVdb publication page



Screening of RB1 gene mutations in Chinese patients with retinoblastoma and preliminary exploration of genotype-phenotype correlations.

Molecular Vision
He, Ming-yan MY; An, Yu Y; Gao, Yi-jin YJ; Qian, Xiao-wen XW; Li, Gang G; Qian, Jiang J
Publication Date: 2014

Variant appearance in text: RB1: 967G>T; E323X
PubMed Link: 24791139
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma.

American Journal Of Human Genetics
Richter, Suzanne S; Vandezande, Kirk K; Chen, Ning N; Zhang, Katherine K; Sutherland, Joanne J; Anderson, Julie J; Han, Liping L; Panton, Rachel R; Branco, Patricia P; Gallie, Brenda B
Publication Date: 2003-02

Variant appearance in text: RB1: E323X
PubMed Link: 12541220
Variant Present in the following documents:
  • Main text
View BVdb publication page