RB1 c.2071G>A ;(p.E691K)

Variant ID: 13-49033934-G-A

NM_000321.2(RB1):c.2071G>A;(p.E691K)

This variant was identified in 5 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: 2071G>A; Glu691Lys
PubMed Link: 36140756
Variant Present in the following documents:
  • genes-13-01588.pdf
View BVdb publication page



Increased blood-based intratumor heterogeneity (bITH) is associated with unfavorable outcomes of immune checkpoint inhibitors plus chemotherapy in non-small cell lung cancer.

Bmc Medicine
Zhou, Juan J; Bao, Minwei M; Gao, Guanghui G; Cai, Yiran Y; Wu, Lihong L; Lei, Lei L; Zhao, Jing J; Ji, Xianxiu X; Huang, Ying Y; Su, Chunxia C
Publication Date: 2022-07-29

Variant appearance in text: RB1: E691K
PubMed Link: 35902848
Variant Present in the following documents:
  • 12916_2022_2444_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



Somatic and Germline Genomic Alterations in Very Young Women with Breast Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Waks, Adrienne G AG; Kim, Dewey D; Jain, Esha E; Snow, Craig C; Kirkner, Gregory J GJ; Rosenberg, Shoshana M SM; Oh, Coyin C; Poorvu, Philip D PD; Ruddy, Kathryn J KJ; Tamimi, Rulla M RM; Peppercorn, Jeffrey J; Schapira, Lidia L; Borges, Virginia F VF; Come, Steven E SE; Brachtel, Elena F EF; Warner, Ellen E; Collins, Laura C LC; Partridge, Ann H AH; Wagle, Nikhil N
Publication Date: 2022-06-01

Variant appearance in text: RB1: 2071G>A; E691K
PubMed Link: 35101884
Variant Present in the following documents:
  • ccr-21-2572_supplementary_table_s1_supps1.xlsx, sheet 1
View BVdb publication page



Plasma ctDNA is a tumor tissue surrogate and enables clinical-genomic stratification of metastatic bladder cancer.

Nature Communications
Vandekerkhove, Gillian G; Lavoie, Jean-Michel JM; Annala, Matti M; Murtha, Andrew J AJ; Sundahl, Nora N; Walz, Simon S; Sano, Takeshi T; Taavitsainen, Sinja S; Ritch, Elie E; Fazli, Ladan L; Hurtado-Coll, Antonio A; Wang, Gang G; Nykter, Matti M; Black, Peter C PC; Todenhöfer, Tilman T; Ost, Piet P; Gibb, Ewan A EA; Chi, Kim N KN; Eigl, Bernhard J BJ; Wyatt, Alexander W AW
Publication Date: 2021-01-08

Variant appearance in text: RB1: E691K
PubMed Link: 33420073
Variant Present in the following documents:
  • 41467_2020_20493_MOESM3_ESM.xlsx, sheet 4
  • 41467_2020_20493_MOESM3_ESM.xlsx, sheet 7
View BVdb publication page



Olaparib is effective for recurrent urothelial carcinoma with BRCA2 pathogenic germline mutation: first report on olaparib response in recurrent UC.

Therapeutic Advances In Medical Oncology
Yang, Hong H; Liu, Zhimin Z; Wang, Yufang Y; Li, Jun J; Li, Ruiqian R; Wang, Qilin Q; Hu, Chen C; Jiang, Haiyang H; Wu, Hongyi H; Song, Lele L; Bai, Yu Y
Publication Date: 2020

Variant appearance in text: RB1: 2071G>A
PubMed Link: 33240400
Variant Present in the following documents:
  • Main text
View BVdb publication page