ERBB2 c.2048G>A ;(p.R683Q)

Variant ID: 17-37879673-G-A

NM_004448.2(ERBB2):c.2048G>A;(p.R683Q)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Molecular landscape of TP53 mutations in breast cancer and their utility for predicting the response to HER-targeted therapy in HER2 amplification-positive and HER2 mutation-positive amplification-negative patients.

Cancer Medicine
Liu, Binliang B; Yi, Zongbi Z; Guan, Yanfang Y; Ouyang, Quchang Q; Li, Chunxiao C; Guan, Xiuwen X; Lv, Dan D; Li, Lixi L; Zhai, Jingtong J; Qian, Haili H; Xu, Binghe B; Ma, Fei F; Zeng, Yixin Y
Publication Date: 2022-07

Variant appearance in text: ERBB2: 2048G>A; R683Q
PubMed Link: 35393784
Variant Present in the following documents:
  • CAM4-11-2767-s001.xlsx, sheet 1
View BVdb publication page



Longitudinal Dynamics of Circulating Tumor Cells and Circulating Tumor DNA for Treatment Monitoring in Metastatic Breast Cancer.

Jco Precision Oncology
Gerratana, Lorenzo L; Davis, Andrew A AA; Zhang, Qiang Q; Basile, Debora D; Rossi, Giovanna G; Strickland, Kimberly K; Franzoni, Alessandra A; Allegri, Lorenzo L; Mu, Zhaomei Z; Zhang, Youbin Y; Flaum, Lisa E LE; Damante, Giuseppe G; Gradishar, William John WJ; Platanias, Leonidas C LC; Behdad, Amir A; Yang, Hushan H; Puglisi, Fabio F; Cristofanilli, Massimo M
Publication Date: 2021-06

Variant appearance in text: ERBB2: R683Q
PubMed Link: 34136741
Variant Present in the following documents:
  • po-5-943.pdf
View BVdb publication page



Molecular landscape and efficacy of HER2-targeted therapy in patients with HER2-mutated metastatic breast cancer.

Npj Breast Cancer
Yi, Zongbi Z; Rong, Guohua G; Guan, Yanfang Y; Li, Jin J; Chang, Lianpeng L; Li, Hui H; Liu, Binliang B; Wang, Wenna W; Guan, Xiuwen X; Ouyang, Quchang Q; Li, Lixi L; Zhai, Jingtong J; Li, Chunxiao C; Li, Lifeng L; Xia, Xuefeng X; Yang, Ling L; Qian, Haili H; Yi, Xin X; Xu, Binghe B; Ma, Fei F
Publication Date: 2020

Variant appearance in text: ERBB2: 2048G>A; R683Q
PubMed Link: 33145402
Variant Present in the following documents:
  • 41523_2020_201_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Finding driver mutations in cancer: Elucidating the role of background mutational processes.

Plos Computational Biology
Brown, Anna-Leigh AL; Li, Minghui M; Goncearenco, Alexander A; Panchenko, Anna R AR
Publication Date: 2019-04

Variant appearance in text: ERBB2: R683Q
PubMed Link: 31034466
Variant Present in the following documents:
  • pcbi.1006981.s010.xlsx, sheet 1
View BVdb publication page



Actionable Activating Oncogenic ERBB2/HER2 Transmembrane and Juxtamembrane Domain Mutations.

Cancer Cell
Pahuja, Kanika Bajaj KB; Nguyen, Thong T TT; Jaiswal, Bijay S BS; Prabhash, Kumar K; Thaker, Tarjani M TM; Senger, Kate K; Chaudhuri, Subhra S; Kljavin, Noelyn M NM; Antony, Aju A; Phalke, Sameer S; Kumar, Prasanna P; Mravic, Marco M; Stawiski, Eric W EW; Vargas, Derek D; Durinck, Steffen S; Gupta, Ravi R; Khanna-Gupta, Arati A; Trabucco, Sally E SE; Sokol, Ethan S ES; Hartmaier, Ryan J RJ; Singh, Ashish A; Chougule, Anuradha A; Trivedi, Vaishakhi V; Dutt, Amit A; Patil, Vijay V; Joshi, Amit A; Noronha, Vanita V; Ziai, James J; Banavali, Sripad D SD; Ramprasad, Vedam V; DeGrado, William F WF; Bueno, Raphael R; Jura, Natalia N; Seshagiri, Somasekar S
Publication Date: 2018-11-12

Variant appearance in text: HER2: R683Q
PubMed Link: 30449325
Variant Present in the following documents:
  • Main text
View BVdb publication page



Formalin fixation increases deamination mutation signature but should not lead to false positive mutations in clinical practice.

Plos One
Prentice, Leah M LM; Miller, Ruth R RR; Knaggs, Jeff J; Mazloomian, Alborz A; Aguirre Hernandez, Rosalia R; Franchini, Patrick P; Parsa, Kourosh K; Tessier-Cloutier, Basile B; Lapuk, Anna A; Huntsman, David D; Schaeffer, David F DF; Sheffield, Brandon S BS
Publication Date: 2018

Variant appearance in text: ERBB2: R683Q
PubMed Link: 29698444
Variant Present in the following documents:
  • pone.0196434.s001.xlsx, sheet 3
  • pone.0196434.s001.xlsx, sheet 1
  • pone.0196434.s001.xlsx, sheet 2
View BVdb publication page