RB1 c.2393G>A ;(p.R798Q)

Variant ID: 13-49039408-G-A

NM_000321.2(RB1):c.2393G>A;(p.R798Q)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Evolutionary Trajectories of Primary and Metastatic Pancreatic Neuroendocrine Tumors Based on Genomic Variations.

Genes
Xu, Midie M; Yan, Jiuliang J; Hu, Beiyuan B; Wu, Chuntao C; Gu, Haitao H; Qi, Zihao Z; Chen, Tao T; Yang, Wenting W; Zheng, Yan Y; Dong, Hanguang H; Sheng, Weiqi W; Long, Jiang J
Publication Date: 2022-09-04

Variant appearance in text: RB1: 2393G>A; Arg798Gln
PubMed Link: 36140756
Variant Present in the following documents:
  • genes-13-01588.pdf
View BVdb publication page



Genomic attributes of homology-directed DNA repair deficiency in metastatic prostate cancer.

Jci Insight
De Sarkar, Navonil N; Dasgupta, Sayan S; Chatterjee, Payel P; Coleman, Ilsa I; Ha, Gavin G; Ang, Lisa S LS; Kohlbrenner, Emily A EA; Frank, Sander B SB; Nunez, Talina A TA; Salipante, Stephen J SJ; Corey, Eva E; Morrissey, Colm C; Van Allen, Eliezer E; Schweizer, Michael T MT; Haffner, Michael C MC; Patel, Radhika R; Hanratty, Brian B; Lucas, Jared M JM; Dumpit, Ruth F RF; Pritchard, Colin C CC; Montgomery, Robert B RB; Nelson, Peter S PS
Publication Date: 2021-12-08

Variant appearance in text: RB1: R798Q
PubMed Link: 34877933
Variant Present in the following documents:
  • jciinsight-6-152789-s069.xlsx, sheet 8
View BVdb publication page



Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.

Jama Oncology
Cobain, Erin F EF; Wu, Yi-Mi YM; Vats, Pankaj P; Chugh, Rashmi R; Worden, Francis F; Smith, David C DC; Schuetze, Scott M SM; Zalupski, Mark M MM; Sahai, Vaibhav V; Alva, Ajjai A; Schott, Anne F AF; Caram, Megan E V MEV; Hayes, Daniel F DF; Stoffel, Elena M EM; Jacobs, Michelle F MF; Kumar-Sinha, Chandan C; Cao, Xuhong X; Wang, Rui R; Lucas, David D; Ning, Yu Y; Rabban, Erica E; Bell, Janice J; Camelo-Piragua, Sandra S; Udager, Aaron M AM; Cieslik, Marcin M; Lonigro, Robert J RJ; Kunju, Lakshmi P LP; Robinson, Dan R DR; Talpaz, Moshe M; Chinnaiyan, Arul M AM
Publication Date: 2021-04-01

Variant appearance in text: RB1: R798Q
PubMed Link: 33630025
Variant Present in the following documents:
  • jamaoncol-e207987-s004.xlsx, sheet 2
View BVdb publication page



RB1 Germline Variant Predisposing to a Rare Ovarian Germ Cell Tumor: A Case Report.

Frontiers In Oncology
Gelli, Elisa E; Fallerini, Chiara C; Valentino, Floriana F; Giliberti, Annarita A; Castiglione, Francesca F; Laschi, Lucrezia L; Palmieri, Maria M; Fabbiani, Alessandra A; Tita, Rossella R; Mencarelli, Maria Antonietta MA; Renieri, Alessandra A; Ariani, Francesca F
Publication Date: 2020

Variant appearance in text: RB1: 2393G>A
PubMed Link: 32974172
Variant Present in the following documents:
  • Main text
View BVdb publication page



PI3K p110α Blockade Enhances Anti-Tumor Efficacy of Abemaciclib in Human Colorectal Cancer Cells.

Cancers
Lee, Hyun Jung HJ; Kim, Kui-Jin KJ; Sung, Ji Hea JH; Nam, Milang M; Suh, Koung Jin KJ; Kim, Ji-Won JW; Kim, Se Hyun SH; Kim, Jin Won JW; Kim, Yu Jung YJ; Lee, Keun-Wook KW; Lee, Jong Seok JS; Kim, Jee Hyun JH
Publication Date: 2020-09-03

Variant appearance in text: RB1: R798Q
PubMed Link: 32899250
Variant Present in the following documents:
  • cancers-12-02500-s001.pdf
View BVdb publication page



DNA-Repair Gene Mutations Are Highly Prevalent in Circulating Tumour DNA from Multiple Myeloma Patients.

Cancers
Mithraprabhu, Sridurga S; Hocking, Jay J; Ramachandran, Malarmathy M; Choi, Kawa K; Klarica, Daniela D; Khong, Tiffany T; Reynolds, John J; Spencer, Andrew A
Publication Date: 2019-06-29

Variant appearance in text: RB1: R798Q
PubMed Link: 31261969
Variant Present in the following documents:
  • cancers-11-00917-s001.xlsx, sheet 2
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: R798Q
PubMed Link: 31253177
Variant Present in the following documents:
  • 13073_2019_654_MOESM2_ESM.xlsx, sheet 52
View BVdb publication page



Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing.

European Journal Of Human Genetics : Ejhg
Vogelaar, Ingrid P IP; van der Post, Rachel S RS; van Krieken, J Han Jm JHJ; Spruijt, Liesbeth L; van Zelst-Stams, Wendy Ag WA; Kets, C Marleen CM; Lubinski, Jan J; Jakubowska, Anna A; Teodorczyk, Urszula U; Aalfs, Cora M CM; van Hest, Liselotte P LP; Pinheiro, Hugo H; Oliveira, Carla C; Jhangiani, Shalini N SN; Muzny, Donna M DM; Gibbs, Richard A RA; Lupski, James R JR; de Ligt, Joep J; Vissers, Lisenka E L M LELM; Hoischen, Alexander A; Gilissen, Christian C; van de Vorst, Maartje M; Goeman, Jelle J JJ; Schackert, Hans K HK; Ranzani, Guglielmina N GN; Molinaro, Valeria V; Gómez García, Encarna B EB; Hes, Frederik J FJ; Holinski-Feder, Elke E; Genuardi, Maurizio M; Ausems, Margreet G E M MGEM; Sijmons, Rolf H RH; Wagner, Anja A; van der Kolk, Lizet E LE; Bjørnevoll, Inga I; Høberg-Vetti, Hildegunn H; van Kessel, Ad Geurts AG; Kuiper, Roland P RP; Ligtenberg, Marjolijn J L MJL; Hoogerbrugge, Nicoline N
Publication Date: 2017-11

Variant appearance in text: RB1: 2393G>A; Arg798Gln
PubMed Link: 28875981
Variant Present in the following documents:
  • ejhg2017138x4.xlsx, sheet 1
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: 2393G>A; R798Q
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports
Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA
Publication Date: 2016-04-26

Variant appearance in text: RB1: R798Q
PubMed Link: 27149842
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page