RB1 c.1633G>A ;(p.E545K)

Variant ID: 13-48955517-G-A

NM_000321.2(RB1):c.1633G>A;(p.E545K)

This variant was identified in 17 publications

View GRCh38 version.




Publications:


Heterogeneity of the cancer cell line metabolic landscape.

Molecular Systems Biology
Shorthouse, David D; Bradley, Jenna J; Critchlow, Susan E SE; Bendtsen, Claus C; Hall, Benjamin A BA
Publication Date: 2022-11

Variant appearance in text: RB1: 1633G>A; Glu545Lys
PubMed Link: 36321551
Variant Present in the following documents:
  • MSB-18-e11006-s010.xlsx, sheet 1
View BVdb publication page



Pharmacogenetics of hepatocellular carcinoma and cholangiocarcinoma.

Cancer Drug Resistance (Alhambra, Calif.)
Alonso-Peña, Marta M; Sanchez-Martin, Anabel A; Sanchon-Sanchez, Paula P; Soto-Muñiz, Meraris M; Espinosa-Escudero, Ricardo R; Marin, Jose J G JJG
Publication Date: 2019

Variant appearance in text: RB1: 1633G>A; Glu545Lys
PubMed Link: 35582588
Variant Present in the following documents:
  • cdr-2-680.pdf
View BVdb publication page



Clinical utility of comprehensive genomic profiling in Japan: Result of PROFILE-F study.

Plos One
Aoyagi, Yasuko Y; Kano, Yoshihito Y; Tohyama, Kohki K; Matsudera, Shotaro S; Kumaki, Yuichi Y; Takahashi, Kenta K; Mitsumura, Takahiro T; Harada, Yohei Y; Sato, Akemi A; Nakamura, Hideaki H; Sueoka, Eisaburo E; Aragane, Naoko N; Kimura, Koichiro K; Onishi, Iichiro I; Takemoto, Akira A; Akahoshi, Keiichi K; Ono, Hiroaki H; Ishikawa, Toshiaki T; Tokunaga, Masanori M; Nakagawa, Tsuyoshi T; Oshima, Noriko N; Nakamura, Reiko R; Takagi, Masatoshi M; Asakage, Takahiro T; Uetake, Hiroyuki H; Tanabe, Minoru M; Miyake, Satoshi S; Kinugasa, Yusuke Y; Ikeda, Sadakatsu S
Publication Date: 2022

Variant appearance in text: RB1: E545K
PubMed Link: 35358259
Variant Present in the following documents:
  • pone.0266112.s001.xlsx, sheet 1
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: 1633G>A
PubMed Link: 34674268
Variant Present in the following documents:
  • IJC-150-802-s001.pdf
View BVdb publication page



A Lung Adenocarcinoma Patient With a Rare EGFR E709_T710delinsD Mutation Showed a Good Response to Afatinib Treatment: A Case Report and Literature Review.

Frontiers In Oncology
Wei, Yu Y; Cui, Yueli Y; Guo, Yao Y; Li, Lei L; Zeng, Liang L
Publication Date: 2021

Variant appearance in text: RB1: 1633G>A; E545K
PubMed Link: 34178699
Variant Present in the following documents:
  • fonc-11-700345.pdf
View BVdb publication page



Long-term disease control and survival observed after stereotactic ablative body radiotherapy for oligometastatic breast cancer.

Cancer Medicine
Wijetunga, N Ari NA; Dos Anjos, Carlos H CH; Zhi, W Iris WI; Robson, Mark M; Tsai, C Jillian CJ; Yamada, Yoshiya Y; Dover, Laura L; Gillespie, Erin F EF; Xu, Amy J AJ; Yang, Jonathan T JT
Publication Date: 2021-08

Variant appearance in text: RB1: 1633G>A; E545K
PubMed Link: 34159748
Variant Present in the following documents:
  • CAM4-10-5163-s001.xlsx, sheet 8
View BVdb publication page



Generation of Non-Small Cell Lung Cancer Patient-Derived Xenografts to Study Intratumor Heterogeneity.

Cancers
Kanaki, Zoi Z; Voutsina, Alexandra A; Markou, Athina A; Pateras, Ioannis S IS; Potaris, Konstantinos K; Avgeris, Margaritis M; Makrythanasis, Periklis P; Athanasiadis, Emmanouil I EI; Vamvakaris, Ioannis I; Patsea, Eleni E; Vachlas, Konstantinos K; Lianidou, Evi E; Georgoulias, Vassilis V; Kotsakis, Athanasios A; Klinakis, Apostolos A
Publication Date: 2021-05-18

Variant appearance in text: RB1: 1633G>A; E545K
PubMed Link: 34070013
Variant Present in the following documents:
  • Main text
View BVdb publication page



Integrated digital pathology and transcriptome analysis identifies molecular mediators of T-cell exclusion in ovarian cancer.

Nature Communications
Desbois, Mélanie M; Udyavar, Akshata R AR; Ryner, Lisa L; Kozlowski, Cleopatra C; Guan, Yinghui Y; Dürrbaum, Milena M; Lu, Shan S; Fortin, Jean-Philippe JP; Koeppen, Hartmut H; Ziai, James J; Chang, Ching-Wei CW; Keerthivasan, Shilpa S; Plante, Marie M; Bourgon, Richard R; Bais, Carlos C; Hegde, Priti P; Daemen, Anneleen A; Turley, Shannon S; Wang, Yulei Y
Publication Date: 2020-11-04

Variant appearance in text: RB1: Glu545Lys
PubMed Link: 33149148
Variant Present in the following documents:
  • 41467_2020_19408_MOESM8_ESM.xlsx, sheet 10
View BVdb publication page



Genetic and clinical landscape of breast cancers with germline BRCA1/2 variants.

Communications Biology
Inagaki-Kawata, Yukiko Y; Yoshida, Kenichi K; Kawaguchi-Sakita, Nobuko N; Kawashima, Masahiro M; Nishimura, Tomomi T; Senda, Noriko N; Shiozawa, Yusuke Y; Takeuchi, Yasuhide Y; Inoue, Yoshikage Y; Sato-Otsubo, Aiko A; Fujii, Yoichi Y; Nannya, Yasuhito Y; Suzuki, Eiji E; Takada, Masahiro M; Tanaka, Hiroko H; Shiraishi, Yuichi Y; Chiba, Kenichi K; Kataoka, Yuki Y; Torii, Masae M; Yoshibayashi, Hiroshi H; Yamagami, Kazuhiko K; Okamura, Ryuji R; Moriguchi, Yoshio Y; Kato, Hironori H; Tsuyuki, Shigeru S; Yamauchi, Akira A; Suwa, Hirofumi H; Inamoto, Takashi T; Miyano, Satoru S; Ogawa, Seishi S; Toi, Masakazu M
Publication Date: 2020-10-16

Variant appearance in text: RB1: E545K
PubMed Link: 33067557
Variant Present in the following documents:
  • 42003_2020_1301_MOESM1_ESM.pdf
View BVdb publication page



P53 and PIK3CA Mutations in KRAS/HER2 Negative Ovarian Intestinal-Type Mucinous Carcinoma Associated with Mature Teratoma.

Case Reports In Obstetrics And Gynecology
Bouri, Sarah S; Simon, Philippe P; D'Haene, Nicky N; Catteau, Xavier X; Noël, Jean-Christophe JC
Publication Date: 2020

Variant appearance in text: RB1: E545K
PubMed Link: 32774960
Variant Present in the following documents:
  • Main text
View BVdb publication page



A mutation-specific, single-arm, phase 2 study of dovitinib in patients with advanced malignancies.

Oncotarget
Taylor, Matthew H MH; Alva, Ajjai S AS; Larson, Timothy T; Szpakowski, Sebastian S; Purkaystha, Das D; Amin, Alpesh A; Karpiak, Linda L; Piha-Paul, Sarina A SA
Publication Date: 2020-04-07

Variant appearance in text: RB1: E545K
PubMed Link: 32292573
Variant Present in the following documents:
  • oncotarget-11-1235-s001.pdf
View BVdb publication page



Clinical significance of stromal ER and PR expression in periampullary adenocarcinoma.

Biomarker Research
Andersson, Gustav G; Lundgren, Sebastian S; Heby, Margareta M; Nodin, Björn B; Elebro, Jacob J; Jirström, Karin K
Publication Date: 2019

Variant appearance in text: RB1: 1633G>A; Glu545Lys
PubMed Link: 31827798
Variant Present in the following documents:
  • 40364_2019_176_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Phosphoproteomics Enables Molecular Subtyping and Nomination of Kinase Candidates for Individual Patients of Diffuse-Type Gastric Cancer.

Iscience
Tong, Mengsha M; Yu, Chunyu C; Shi, Jinwen J; Huang, Wenwen W; Ge, Sai S; Liu, Mingwei M; Song, Lei L; Zhan, Dongdong D; Xia, Xia X; Liu, Wanlin W; Feng, Jinwen J; Shi, Wenhao W; Ji, Jiafu J; Gao, Jing J; Shi, Tieliu T; Zhu, Weimin W; Ding, Chen C; Wang, Yi Y; He, Fuchu F; Shen, Lin L; Li, Tingting T; Qin, Jun J
Publication Date: 2019-12-20

Variant appearance in text: RB1: E545K
PubMed Link: 31751824
Variant Present in the following documents:
  • mmc15.xlsx, sheet 2
View BVdb publication page



An Ophthalmic Targeted Exome Sequencing Panel as a Powerful Tool to Identify Causative Mutations in Patients Suspected of Hereditary Eye Diseases.

Translational Vision Science & Technology
Wang, Panfeng P; Li, Shiqiang S; Sun, Wenming W; Xiao, Xueshan X; Jia, Xiaoyun X; Liu, Mengchu M; Xu, Lieqiang L; Long, Yuxi Y; Zhang, Qingjiong Q
Publication Date: 2019-03

Variant appearance in text: RB1: 1633G>A
PubMed Link: 31106028
Variant Present in the following documents:
  • tvst-08-02-12_s02.xlsx, sheet 1
View BVdb publication page



A network flow-based method to predict anticancer drug sensitivity.

Plos One
Qin, Yufang Y; Chen, Ming M; Wang, Haiyun H; Zheng, Xiaoqi X
Publication Date: 2015

Variant appearance in text: RB1: E545K
PubMed Link: 25992881
Variant Present in the following documents:
  • pone.0127380.s002.xlsx, sheet 1
View BVdb publication page



Kinome sequencing reveals RET G691S polymorphism in human neuroendocrine lung cancer cell lines.

Genes & Genomics
Sosonkina, Nadiya N; Hong, Seung-Keun SK; Starenki, Dmytro D; Park, Jong-In JI
Publication Date: 2014-12

Variant appearance in text: RB1: 1633G>A; E545K
PubMed Link: 25530832
Variant Present in the following documents:
  • Main text
View BVdb publication page



Systematic identification of genomic markers of drug sensitivity in cancer cells.

Nature
Garnett, Mathew J MJ; Edelman, Elena J EJ; Heidorn, Sonja J SJ; Greenman, Chris D CD; Dastur, Anahita A; Lau, King Wai KW; Greninger, Patricia P; Thompson, I Richard IR; Luo, Xi X; Soares, Jorge J; Liu, Qingsong Q; Iorio, Francesco F; Surdez, Didier D; Chen, Li L; Milano, Randy J RJ; Bignell, Graham R GR; Tam, Ah T AT; Davies, Helen H; Stevenson, Jesse A JA; Barthorpe, Syd S; Lutz, Stephen R SR; Kogera, Fiona F; Lawrence, Karl K; McLaren-Douglas, Anne A; Mitropoulos, Xeni X; Mironenko, Tatiana T; Thi, Helen H; Richardson, Laura L; Zhou, Wenjun W; Jewitt, Frances F; Zhang, Tinghu T; O'Brien, Patrick P; Boisvert, Jessica L JL; Price, Stacey S; Hur, Wooyoung W; Yang, Wanjuan W; Deng, Xianming X; Butler, Adam A; Choi, Hwan Geun HG; Chang, Jae Won JW; Baselga, Jose J; Stamenkovic, Ivan I; Engelman, Jeffrey A JA; Sharma, Sreenath V SV; Delattre, Olivier O; Saez-Rodriguez, Julio J; Gray, Nathanael S NS; Settleman, Jeffrey J; Futreal, P Andrew PA; Haber, Daniel A DA; Stratton, Michael R MR; Ramaswamy, Sridhar S; McDermott, Ultan U; Benes, Cyril H CH
Publication Date: 2012-03-28

Variant appearance in text: RB1: E545K
PubMed Link: 22460902
Variant Present in the following documents:
  • NIHMS47188-supplement-supp_data.xlsx, sheet 2
View BVdb publication page