ERBB2 c.1001G>C ;(p.C334S)

Variant ID: 17-37868280-G-C

NM_004448.2(ERBB2):c.1001G>C;(p.C334S)

This variant was identified in 14 publications

View GRCh38 version.




Publications:


Computational and Functional Analyses of HER2 Mutations Reveal Allosteric Activation Mechanisms and Altered Pharmacologic Effects.

Cancer Research
Ishiyama, Noboru N; O'Connor, Matthew M; Salomatov, Andrei A; Romashko, Darlene D; Thakur, Shalabh S; Mentes, Ahmet A; Hopkins, Julia F JF; Frampton, Garrett M GM; Albacker, Lee A LA; Kohlmann, Anna A; Roberts, Christopher C; Buck, Elizabeth E
Publication Date: 2022-05-03

Variant appearance in text: HER2: C334S
PubMed Link: 35503682
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Molecular Tumor Board Portal supports clinical decisions and automated reporting for precision oncology.

Nature Cancer
Tamborero, David D; Dienstmann, Rodrigo R; Rachid, Maan Haj MH; Boekel, Jorrit J; Lopez-Fernandez, Adria A; Jonsson, Markus M; Razzak, Ali A; Braña, Irene I; De Petris, Luigi L; Yachnin, Jeffrey J; Baird, Richard D RD; Loriot, Yohann Y; Massard, Christophe C; Martin-Romano, Patricia P; Opdam, Frans F; Schlenk, Richard F RF; Vernieri, Claudio C; Masucci, Michele M; Villalobos, Xenia X; Chavarria, Elena E; , ; Balmaña, Judith J; Apolone, Giovanni G; Caldas, Carlos C; Bergh, Jonas J; Ernberg, Ingemar I; Fröhling, Stefan S; Garralda, Elena E; Karlsson, Claes C; Tabernero, Josep J; Voest, Emile E; Rodon, Jordi J; Lehtiö, Janne J
Publication Date: 2022-02

Variant appearance in text: ERBB2: Cys334Ser
PubMed Link: 35221333
Variant Present in the following documents:
  • 43018_2022_332_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology
Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C
Publication Date: 2021

Variant appearance in text: ERBB2: C334S
PubMed Link: 34630336
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
View BVdb publication page



ERBB2/HER2 mutations are transforming and therapeutically targetable in leukemia.

Leukemia
Joshi, Sunil K SK; Keck, Jamie M JM; Eide, Christopher A CA; Bottomly, Daniel D; Traer, Elie E; Tyner, Jeffrey W JW; McWeeney, Shannon K SK; Tognon, Cristina E CE; Druker, Brian J BJ
Publication Date: 2020-10

Variant appearance in text: ERBB2: C334S
PubMed Link: 32366937
Variant Present in the following documents:
  • Main text
  • 41375_2020_Article_844.pdf
View BVdb publication page



Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
Publication Date: 2020-07

Variant appearance in text: ERBB2: C334S
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12
View BVdb publication page



The HER2 S310F Mutant Can Form an Active Heterodimer with the EGFR, Which Can Be Inhibited by Cetuximab but Not by Trastuzumab as well as Pertuzumab.

Biomolecules
Shin, Jung Won JW; Kim, Soohyun S; Ha, Suji S; Choi, Byungsan B; Kim, Seongyeong S; Im, Seock-Ah SA; Yoon, Tae-Young TY; Chung, Junho J
Publication Date: 2019-10-19

Variant appearance in text: HER2: C334S
PubMed Link: 31635022
Variant Present in the following documents:
  • Main text
  • biomolecules-09-00629.pdf
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: C334S
PubMed Link: 31034466
Variant Present in the following documents:
  • pcbi.1006981.s010.xlsx, sheet 1
View BVdb publication page



Integrative omics analyses broaden treatment targets in human cancer.

Genome Medicine
Sengupta, Sohini S; Sun, Sam Q SQ; Huang, Kuan-Lin KL; Oh, Clara C; Bailey, Matthew H MH; Varghese, Rajees R; Wyczalkowski, Matthew A MA; Ning, Jie J; Tripathi, Piyush P; McMichael, Joshua F JF; Johnson, Kimberly J KJ; Kandoth, Cyriac C; Welch, John J; Ma, Cynthia C; Wendl, Michael C MC; Payne, Samuel H SH; Fenyö, David D; Townsend, Reid R RR; Dipersio, John F JF; Chen, Feng F; Ding, Li L
Publication Date: 2018-07-27

Variant appearance in text: ERBB2: C334S
PubMed Link: 30053901
Variant Present in the following documents:
  • 13073_2018_564_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



A novel, somatic, transforming mutation in the extracellular domain of Epidermal Growth Factor Receptor identified in myeloproliferative neoplasm.

Scientific Reports
Casolari, D A DA; Nguyen, T T; Butcher, C M CM; Iarossi, D G DG; Hahn, C N CN; Bray, S C SC; Neufing, P P; Parker, W T WT; Feng, J J; Maung, K Z Y KZY; Wee, A A; Vidovic, L L; Kok, C H CH; Bardy, P G PG; Branford, S S; Lewis, I D ID; Lane, S W SW; Scott, H S HS; Ross, D M DM; D'Andrea, R J RJ
Publication Date: 2017-05-26

Variant appearance in text: ERBB2: C334S
PubMed Link: 28550306
Variant Present in the following documents:
  • Main text
View BVdb publication page



Longitudinal analysis of treatment-induced genomic alterations in gliomas.

Genome Medicine
Erson-Omay, E Zeynep EZ; Henegariu, Octavian O; Omay, S Bülent SB; Harmancı, Akdes Serin AS; Youngblood, Mark W MW; Mishra-Gorur, Ketu K; Li, Jie J; Özduman, Koray K; Carrión-Grant, Geneive G; Clark, Victoria E VE; Çağlar, Caner C; Bakırcıoğlu, Mehmet M; Pamir, M Necmettin MN; Tabar, Viviane V; Vortmeyer, Alexander O AO; Bilguvar, Kaya K; Yasuno, Katsuhito K; DeAngelis, Lisa M LM; Baehring, Joachim M JM; Moliterno, Jennifer J; Günel, Murat M
Publication Date: 2017-02-02

Variant appearance in text: ERBB2: C334S
PubMed Link: 28153049
Variant Present in the following documents:
  • 13073_2017_401_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



HER2 as a target in invasive urothelial carcinoma.

Cancer Medicine
Bellmunt, Joaquim J; Werner, Lillian L; Bamias, Aristotle A; Fay, André P AP; Park, Rachel S RS; Riester, Markus M; Selvarajah, Shamini S; Barletta, Justine A JA; Berman, David M DM; de Muga, Silvia S; Salido, Marta M; Gallardo, Enrique E; Rojo, Federico F; Guancial, Elizabeth A EA; Bambury, Richard R; Mullane, Stephanie A SA; Choueiri, Toni K TK; Loda, Massimo M; Stack, Edward E; Rosenberg, Jonathan J
Publication Date: 2015-06

Variant appearance in text: HER2: C334S
PubMed Link: 25720673
Variant Present in the following documents:
  • Main text
  • cam40004-0844.pdf
View BVdb publication page



Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.

Genome Biology
Martelotto, Luciano G LG; Ng, Charlotte Ky CK; De Filippo, Maria R MR; Zhang, Yan Y; Piscuoglio, Salvatore S; Lim, Raymond S RS; Shen, Ronglai R; Norton, Larry L; Reis-Filho, Jorge S JS; Weigelt, Britta B
Publication Date: 2014-10-28

Variant appearance in text: ERBB2: C334S
PubMed Link: 25348012
Variant Present in the following documents:
  • 13059_2014_484_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Impact of ERBB2 mutations on in vitro sensitivity of bladder cancer to lapatinib.

Cancer Biology & Therapy
de Martino, Michela M; Zhuang, Dazhong D; Klatte, Tobias T; Rieken, Malte M; Rouprêt, Morgan M; Xylinas, Evanguelos E; Clozel, Thomas T; Krzywinski, Martin M; Elemento, Olivier O; Shariat, Shahrokh F SF
Publication Date: 2014-09

Variant appearance in text: ERBB2: C334S
PubMed Link: 24971884
Variant Present in the following documents:
  • Main text
View BVdb publication page



Functional analysis of receptor tyrosine kinase mutations in lung cancer identifies oncogenic extracellular domain mutations of ERBB2.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Greulich, Heidi H; Kaplan, Bethany B; Mertins, Philipp P; Chen, Tzu-Hsiu TH; Tanaka, Kumiko E KE; Yun, Cai-Hong CH; Zhang, Xiaohong X; Lee, Se-Hoon SH; Cho, Jeonghee J; Ambrogio, Lauren L; Liao, Rachel R; Imielinski, Marcin M; Banerji, Shantanu S; Berger, Alice H AH; Lawrence, Michael S MS; Zhang, Jinghui J; Pho, Nam H NH; Walker, Sarah R SR; Winckler, Wendy W; Getz, Gad G; Frank, David D; Hahn, William C WC; Eck, Michael J MJ; Mani, D R DR; Jaffe, Jacob D JD; Carr, Steven A SA; Wong, Kwok-Kin KK; Meyerson, Matthew M
Publication Date: 2012-09-04

Variant appearance in text: ERBB2: C334S
PubMed Link: 22908275
Variant Present in the following documents:
  • Main text
View BVdb publication page