ERBB2 c.2062C>T ;(p.R688W)

Variant ID: 17-37879687-C-T

NM_004448.2(ERBB2):c.2062C>T;(p.R688W)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Longitudinal profiling of circulating tumour DNA for tracking tumour dynamics in pancreatic cancer.

Bmc Cancer
Sivapalan, Lavanya L; Thorn, Graeme J GJ; Gadaleta, Emanuela E; Kocher, Hemant M HM; Ross-Adams, Helen H; Chelala, Claude C
Publication Date: 2022-04-07

Variant appearance in text: ERBB2: R688W
PubMed Link: 35392854
Variant Present in the following documents:
  • Main text
  • 12885_2022_Article_9387.pdf
View BVdb publication page



The earliest events in BRAF-mutant colorectal cancer: exome sequencing of sessile serrated lesions with a tiny focus dysplasia or cancer reveals recurring mutations in two distinct progression pathways.

The Journal Of Pathology
Bleijenberg, Arne Gc AG; IJspeert, Joep Eg JE; Mulder, Jos Bg JB; Drillenburg, Paul P; Stel, Herbert V HV; Lodder, Elisabeth M EM; Carvalho, Beatriz B; Jansen, Jade J; Meijer, Gerrit G; van Eeden, Susanne S; Dekker, Evelien E; van Noesel, Carel Jm CJ
Publication Date: 2022-06

Variant appearance in text: ERBB2: 2062C>T; R688W
PubMed Link: 35143042
Variant Present in the following documents:
  • PATH-257-239-s001.xlsx, sheet 2
View BVdb publication page



High Incidence of C797S Mutation in Patients With Long Treatment History of EGFR Tyrosine Kinase Inhibitors Including Osimertinib.

Jto Clinical And Research Reports
Osoegawa, Atsushi A; Yamaguchi, Masafumi M; Nakamura, Tomomi T; Morinaga, Ryotaro R; Tanaka, Kentaro K; Kashiwabara, Kosuke K; Miura, Takashi T; Suetsugu, Takayuki T; Harada, Taishi T; Asoh, Tatsuma T; Taguchi, Kenichi K; Nabeshima, Kazuki K; Kishimoto, Junji J; Sakai, Kazuko K; Nishio, Kazuto K; Sugio, Kenji K
Publication Date: 2021-07

Variant appearance in text: ERBB2: 2062C>T; Arg688Trp
PubMed Link: 34590037
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications
Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q
Publication Date: 2021-01-04

Variant appearance in text: ERBB2: 2062C>T; R688C
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



A human immune dysregulation syndrome characterized by severe hyperinflammation with a homozygous nonsense Roquin-1 mutation.

Nature Communications
Tavernier, S J SJ; Athanasopoulos, V V; Verloo, P P; Behrens, G G; Staal, J J; Bogaert, D J DJ; Naesens, L L; De Bruyne, M M; Van Gassen, S S; Parthoens, E E; Ellyard, J J; Cappello, J J; Morris, L X LX; Van Gorp, H H; Van Isterdael, G G; Saeys, Y Y; Lamkanfi, M M; Schelstraete, P P; Dehoorne, J J; Bordon, V V; Van Coster, R R; Lambrecht, B N BN; Menten, B B; Beyaert, R R; Vinuesa, C G CG; Heissmeyer, V V; Dullaers, M M; Haerynck, F F
Publication Date: 2019-10-21

Variant appearance in text: ERBB2: 2062C>T; R688*
PubMed Link: 31636267
Variant Present in the following documents:
  • 41467_2019_12704_MOESM1_ESM.pdf
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: R688W
PubMed Link: 29698444
Variant Present in the following documents:
  • pone.0196434.s001.xlsx, sheet 3
  • pone.0196434.s001.xlsx, sheet 2
View BVdb publication page