EGFR c.2284-60T>C

Variant ID: 7-55248926-T-C

NM_005228.3(EGFR):c.2284-60T>C

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Genotyping data of routinely processed matched primary/metastatic tumor samples.

Data In Brief
Kotoula, Vassiliki V; Chatzopoulos, Kyriakos K; Papadopoulou, Kyriaki K; Giannoulatou, Eleni E; Koliou, Georgia-Angeliki GA; Karavasilis, Vasilios V; Pazarli, Elissavet E; Pervana, Stavroula S; Kafiri, Georgia G; Tsoulfas, Georgios G; Chrisafi, Sofia S; Sgouramali, Helen H; Papakostas, Pavlos P; Pectasides, Dimitrios D; Hytiroglou, Prodromos P; Pentheroudakis, George G; Fountzilas, George G
Publication Date: 2021-02

Variant appearance in text: rs10241451
PubMed Link: 33365374
Variant Present in the following documents:
  • mmc1.xlsx, sheet 3
View BVdb publication page



Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.

Acta Neuropathologica Communications
Jungwirth, Gerhard G; Warta, Rolf R; Beynon, Christopher C; Sahm, Felix F; von Deimling, Andreas A; Unterberg, Andreas A; Herold-Mende, Christel C; Jungk, Christine C
Publication Date: 2019-08-30

Variant appearance in text: rs10241451
PubMed Link: 31470906
Variant Present in the following documents:
  • 40478_2019_793_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: EGFR: 2284-60T>C; rs10241451
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04

Variant appearance in text: rs10241451
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget
Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH
Publication Date: 2017-11-10

Variant appearance in text: rs10241451
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 4
View BVdb publication page



Amplicon sequencing of colorectal cancer: variant calling in frozen and formalin-fixed samples.

Plos One
Betge, Johannes J; Kerr, Grainne G; Miersch, Thilo T; Leible, Svenja S; Erdmann, Gerrit G; Galata, Christian L CL; Zhan, Tianzuo T; Gaiser, Timo T; Post, Stefan S; Ebert, Matthias P MP; Horisberger, Karoline K; Boutros, Michael M
Publication Date: 2015

Variant appearance in text: rs10241451
PubMed Link: 26010451
Variant Present in the following documents:
  • pone.0127146.s014.xlsx, sheet 4
  • pone.0127146.s014.xlsx, sheet 3
  • pone.0127146.s014.xlsx, sheet 1
View BVdb publication page



MITF Modulates Therapeutic Resistance through EGFR Signaling.

The Journal Of Investigative Dermatology
Ji, Zhenyu Z; Erin Chen, Yiyin Y; Kumar, Raj R; Taylor, Michael M; Jenny Njauw, Ching-Ni CN; Miao, Benchun B; Frederick, Dennie T DT; Wargo, Jennifer A JA; Flaherty, Keith T KT; Jönsson, Göran G; Tsao, Hensin H
Publication Date: 2015-07

Variant appearance in text: rs10241451
PubMed Link: 25789707
Variant Present in the following documents:
  • NIHMS670893-supplement-01.pdf
View BVdb publication page



Spectrum of somatic EGFR, KRAS, BRAF, PTEN mutations and TTF-1 expression in Brazilian lung cancer patients.

Genetics Research
Carneiro, Juliana G JG; Couto, Patricia G PG; Bastos-Rodrigues, Luciana L; Bicalho, Maria Aparecida C MA; Vidigal, Paula V PV; Vilhena, Alyne A; Amaral, Nilson F NF; Bale, Allen E AE; Friedman, Eitan E; De Marco, Luiz L
Publication Date: 2014

Variant appearance in text: rs10241451
PubMed Link: 24594201
Variant Present in the following documents:
  • Main text
View BVdb publication page



Epidermal growth factor receptor (EGFR) mutations and expression in squamous cell carcinoma of the esophagus in central Asia.

Bmc Cancer
Abedi-Ardekani, Behnoush B; Dar, Nazir Ahmad NA; Mir, Mohammad Muzaffar MM; Zargar, Showkat Ahmad SA; Lone, M Muqbool MM; Martel-Planche, Ghyslaine G; Villar, Stéphanie S; Mounawar, Mounia M; Saidi, Farrokh F; Malekzadeh, Reza R; Hainaut, Pierre P
Publication Date: 2012-12-17

Variant appearance in text: EGFR: 2284-60T>C; rs10241451
PubMed Link: 23244191
Variant Present in the following documents:
  • Main text
  • 1471-2407-12-602.pdf
View BVdb publication page



Patients with peritoneal mesothelioma lack epidermal growth factor receptor tyrosine kinase mutations that would make them sensitive to tyrosine kinase inhibitors.

Oncology Reports
Kalra, Neetu N; Ashai, Ali A; Xi, Liqiang L; Zhang, Jingli J; Avital, Itzhak I; Raffeld, Mark M; Hassan, Raffit R
Publication Date: 2012-06

Variant appearance in text: rs10241451
PubMed Link: 22426987
Variant Present in the following documents:
  • Main text
View BVdb publication page



Antigenic and Genotypic Similarity between Primary Glioblastomas and Their Derived Neurospheres.

Journal Of Oncology
Caldera, Valentina V; Mellai, Marta M; Annovazzi, Laura L; Piazzi, Angela A; Lanotte, Michele M; Cassoni, Paola P; Schiffer, Davide D
Publication Date: 2011

Variant appearance in text: rs10241451
PubMed Link: 21869887
Variant Present in the following documents:
  • Main text
  • JO2011-314962.pdf
View BVdb publication page



Epidermal growth factor receptor structural alterations in gastric cancer.

Bmc Cancer
Moutinho, Cátia C; Mateus, Ana R AR; Milanezi, Fernanda F; Carneiro, Fátima F; Seruca, Raquel R; Suriano, Gianpaolo G
Publication Date: 2008-01-16

Variant appearance in text: rs10241451
PubMed Link: 18199332
Variant Present in the following documents:
  • Main text
  • 1471-2407-8-10.pdf
View BVdb publication page