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EGFR NP_005219.2:p.G719fs*29

MedGen UID:
475854
Concept ID:
C3274221
Cell or Molecular Dysfunction
Synonyms: EGFR G719fs*29; EGFR NP_005219.2:p.Gly719fs*29; EGFR p.G719fs*29; Epidermal Growth Factor Receptor G719fs*29; NP_005219.2:p.Gly719fs*29; Proto-Oncogene c-ErbB-1 G719fs*29; Receptor Tyrosine-Protein Kinase erbB-1 G719fs*29

Definition

A change in the amino acid composition of the epidermal growth factor receptor protein where a frameshift mutation results in the insertion of 28 non-canonic amino acids followed by a stop codon after the glycine residue at position 719. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVEGFR NP_005219.2:p.G719fs*29

Professional guidelines

PubMed

Momin RP, Kobeissi MM, Casarez RL, Khawaja M
J Am Assoc Nurse Pract 2022 Oct 1;34(10):1167-1173. doi: 10.1097/JXX.0000000000000759. PMID: 36191075
Soo R, Mery L, Bardot A, Kanesvaran R, Keong TC, Pongnikorn D, Prasongsook N, Hutajulu SH, Irawan C, Manan AA, Thiagarajan M, Sripan P, Peters S, Storm H, Bray F, Stahel R
ESMO Open 2022 Oct;7(5):100560. Epub 2022 Aug 18 doi: 10.1016/j.esmoop.2022.100560. PMID: 35988454Free PMC Article
Zhang X, Wang M, Feng J, Qin B, Zhang C, Zhu C, Liu W, Wang Y, Liu W, Huang L, Lu S, Wang Z
J Nanobiotechnology 2022 Mar 28;20(1):166. doi: 10.1186/s12951-022-01377-x. PMID: 35346194Free PMC Article

Recent clinical studies

Etiology

Sengupta P, Biswas S, Roy T
J Assoc Physicians India 2022 May;70(5):11-12. PMID: 35598122
Fei F, Siegal GP, Wei S
Breast Cancer Res Treat 2021 Jul;188(1):225-235. Epub 2021 Mar 10 doi: 10.1007/s10549-021-06148-0. PMID: 33694051
Bakris GL, Agarwal R, Anker SD, Pitt B, Ruilope LM, Nowack C, Kolkhof P, Ferreira AC, Schloemer P, Filippatos G; on behalf of the FIDELIO-DKD study investigators; FIDELIO-DKD study investigators
Am J Nephrol 2019;50(5):333-344. Epub 2019 Oct 25 doi: 10.1159/000503713. PMID: 31655812Free PMC Article
Gandhi L, Rodríguez-Abreu D, Gadgeel S, Esteban E, Felip E, De Angelis F, Domine M, Clingan P, Hochmair MJ, Powell SF, Cheng SY, Bischoff HG, Peled N, Grossi F, Jennens RR, Reck M, Hui R, Garon EB, Boyer M, Rubio-Viqueira B, Novello S, Kurata T, Gray JE, Vida J, Wei Z, Yang J, Raftopoulos H, Pietanza MC, Garassino MC; KEYNOTE-189 Investigators
N Engl J Med 2018 May 31;378(22):2078-2092. Epub 2018 Apr 16 doi: 10.1056/NEJMoa1801005. PMID: 29658856
Jamal-Hanjani M, Wilson GA, McGranahan N, Birkbak NJ, Watkins TBK, Veeriah S, Shafi S, Johnson DH, Mitter R, Rosenthal R, Salm M, Horswell S, Escudero M, Matthews N, Rowan A, Chambers T, Moore DA, Turajlic S, Xu H, Lee SM, Forster MD, Ahmad T, Hiley CT, Abbosh C, Falzon M, Borg E, Marafioti T, Lawrence D, Hayward M, Kolvekar S, Panagiotopoulos N, Janes SM, Thakrar R, Ahmed A, Blackhall F, Summers Y, Shah R, Joseph L, Quinn AM, Crosbie PA, Naidu B, Middleton G, Langman G, Trotter S, Nicolson M, Remmen H, Kerr K, Chetty M, Gomersall L, Fennell DA, Nakas A, Rathinam S, Anand G, Khan S, Russell P, Ezhil V, Ismail B, Irvin-Sellers M, Prakash V, Lester JF, Kornaszewska M, Attanoos R, Adams H, Davies H, Dentro S, Taniere P, O'Sullivan B, Lowe HL, Hartley JA, Iles N, Bell H, Ngai Y, Shaw JA, Herrero J, Szallasi Z, Schwarz RF, Stewart A, Quezada SA, Le Quesne J, Van Loo P, Dive C, Hackshaw A, Swanton C; TRACERx Consortium
N Engl J Med 2017 Jun 1;376(22):2109-2121. Epub 2017 Apr 26 doi: 10.1056/NEJMoa1616288. PMID: 28445112

Diagnosis

Gerstein HC, Ramasundarahettige C, Avezum A, Basile J, Conget I, Cushman WC, Dagenais GR, Franek E, Lakshmanan M, Lanas F, Leiter LA, Pogosova N, Probstfield J, Raubenheimer PJ, Riddle M, Shaw J, Sheu WH, Temelkova-Kurktschiev T, Turfanda I, Xavier D
Cardiovasc Diabetol 2022 Aug 22;21(1):158. doi: 10.1186/s12933-022-01594-6. PMID: 35996147Free PMC Article
Osude C, Lin L, Patel M, Eckburg A, Berei J, Kuckovic A, Dube N, Rastogi A, Gautam S, Smith TJ, Sreenivassappa SB, Puri N
Cells 2022 May 19;11(10) doi: 10.3390/cells11101694. PMID: 35626731Free PMC Article
Sengupta P, Biswas S, Roy T
J Assoc Physicians India 2022 May;70(5):11-12. PMID: 35598122
Fei F, Siegal GP, Wei S
Breast Cancer Res Treat 2021 Jul;188(1):225-235. Epub 2021 Mar 10 doi: 10.1007/s10549-021-06148-0. PMID: 33694051
Ghonge NP, Mohan M, Kashyap V, Jasuja S
Radiology 2018 Jul;288(1):146-152. Epub 2018 Apr 10 doi: 10.1148/radiol.2018170577. PMID: 29634441

Therapy

Tan AC, Pavlakis N
Int J Mol Sci 2022 Aug 9;23(16) doi: 10.3390/ijms23168863. PMID: 36012123Free PMC Article
Bhattacharya S
Recent Pat Anticancer Drug Discov 2021;16(1):84-100. doi: 10.2174/1574892815666201221121859. PMID: 33349222
Bakris GL, Agarwal R, Anker SD, Pitt B, Ruilope LM, Nowack C, Kolkhof P, Ferreira AC, Schloemer P, Filippatos G; on behalf of the FIDELIO-DKD study investigators; FIDELIO-DKD study investigators
Am J Nephrol 2019;50(5):333-344. Epub 2019 Oct 25 doi: 10.1159/000503713. PMID: 31655812Free PMC Article
Gandhi L, Rodríguez-Abreu D, Gadgeel S, Esteban E, Felip E, De Angelis F, Domine M, Clingan P, Hochmair MJ, Powell SF, Cheng SY, Bischoff HG, Peled N, Grossi F, Jennens RR, Reck M, Hui R, Garon EB, Boyer M, Rubio-Viqueira B, Novello S, Kurata T, Gray JE, Vida J, Wei Z, Yang J, Raftopoulos H, Pietanza MC, Garassino MC; KEYNOTE-189 Investigators
N Engl J Med 2018 May 31;378(22):2078-2092. Epub 2018 Apr 16 doi: 10.1056/NEJMoa1801005. PMID: 29658856
Wong BS, Yoong SL, Jagusiak A, Panczyk T, Ho HK, Ang WH, Pastorin G
Adv Drug Deliv Rev 2013 Dec;65(15):1964-2015. Epub 2013 Aug 14 doi: 10.1016/j.addr.2013.08.005. PMID: 23954402

Prognosis

Gerstein HC, Ramasundarahettige C, Avezum A, Basile J, Conget I, Cushman WC, Dagenais GR, Franek E, Lakshmanan M, Lanas F, Leiter LA, Pogosova N, Probstfield J, Raubenheimer PJ, Riddle M, Shaw J, Sheu WH, Temelkova-Kurktschiev T, Turfanda I, Xavier D
Cardiovasc Diabetol 2022 Aug 22;21(1):158. doi: 10.1186/s12933-022-01594-6. PMID: 35996147Free PMC Article
Park WY, Kim Y, Paek JH, Jin K, Han S
Transplant Proc 2022 Mar;54(2):335-340. Epub 2022 Jan 28 doi: 10.1016/j.transproceed.2022.01.001. PMID: 35101323
Fei F, Siegal GP, Wei S
Breast Cancer Res Treat 2021 Jul;188(1):225-235. Epub 2021 Mar 10 doi: 10.1007/s10549-021-06148-0. PMID: 33694051
Gandhi L, Rodríguez-Abreu D, Gadgeel S, Esteban E, Felip E, De Angelis F, Domine M, Clingan P, Hochmair MJ, Powell SF, Cheng SY, Bischoff HG, Peled N, Grossi F, Jennens RR, Reck M, Hui R, Garon EB, Boyer M, Rubio-Viqueira B, Novello S, Kurata T, Gray JE, Vida J, Wei Z, Yang J, Raftopoulos H, Pietanza MC, Garassino MC; KEYNOTE-189 Investigators
N Engl J Med 2018 May 31;378(22):2078-2092. Epub 2018 Apr 16 doi: 10.1056/NEJMoa1801005. PMID: 29658856
Jamal-Hanjani M, Wilson GA, McGranahan N, Birkbak NJ, Watkins TBK, Veeriah S, Shafi S, Johnson DH, Mitter R, Rosenthal R, Salm M, Horswell S, Escudero M, Matthews N, Rowan A, Chambers T, Moore DA, Turajlic S, Xu H, Lee SM, Forster MD, Ahmad T, Hiley CT, Abbosh C, Falzon M, Borg E, Marafioti T, Lawrence D, Hayward M, Kolvekar S, Panagiotopoulos N, Janes SM, Thakrar R, Ahmed A, Blackhall F, Summers Y, Shah R, Joseph L, Quinn AM, Crosbie PA, Naidu B, Middleton G, Langman G, Trotter S, Nicolson M, Remmen H, Kerr K, Chetty M, Gomersall L, Fennell DA, Nakas A, Rathinam S, Anand G, Khan S, Russell P, Ezhil V, Ismail B, Irvin-Sellers M, Prakash V, Lester JF, Kornaszewska M, Attanoos R, Adams H, Davies H, Dentro S, Taniere P, O'Sullivan B, Lowe HL, Hartley JA, Iles N, Bell H, Ngai Y, Shaw JA, Herrero J, Szallasi Z, Schwarz RF, Stewart A, Quezada SA, Le Quesne J, Van Loo P, Dive C, Hackshaw A, Swanton C; TRACERx Consortium
N Engl J Med 2017 Jun 1;376(22):2109-2121. Epub 2017 Apr 26 doi: 10.1056/NEJMoa1616288. PMID: 28445112

Clinical prediction guides

Sengupta P, Biswas S, Roy T
J Assoc Physicians India 2022 May;70(5):11-12. PMID: 35598122
Chalkias A, Skoulakis A, Papagiannakis N, Laou E, Tourlakopoulos K, Pagonis A, Michou A, Ntalarizou N, Mermiri M, Ragias D, Bernal-Morell E, Cebreiros López I, García de Guadiana-Romualdo L, Eugen-Olsen J, Gourgoulianis K, Pantazopoulos I; SPARCOL Investigators
Eur J Clin Invest 2022 Jul;52(7):e13794. Epub 2022 May 4 doi: 10.1111/eci.13794. PMID: 35435245Free PMC Article
Gandhi L, Rodríguez-Abreu D, Gadgeel S, Esteban E, Felip E, De Angelis F, Domine M, Clingan P, Hochmair MJ, Powell SF, Cheng SY, Bischoff HG, Peled N, Grossi F, Jennens RR, Reck M, Hui R, Garon EB, Boyer M, Rubio-Viqueira B, Novello S, Kurata T, Gray JE, Vida J, Wei Z, Yang J, Raftopoulos H, Pietanza MC, Garassino MC; KEYNOTE-189 Investigators
N Engl J Med 2018 May 31;378(22):2078-2092. Epub 2018 Apr 16 doi: 10.1056/NEJMoa1801005. PMID: 29658856
Ghonge NP, Mohan M, Kashyap V, Jasuja S
Radiology 2018 Jul;288(1):146-152. Epub 2018 Apr 10 doi: 10.1148/radiol.2018170577. PMID: 29634441
Jamal-Hanjani M, Wilson GA, McGranahan N, Birkbak NJ, Watkins TBK, Veeriah S, Shafi S, Johnson DH, Mitter R, Rosenthal R, Salm M, Horswell S, Escudero M, Matthews N, Rowan A, Chambers T, Moore DA, Turajlic S, Xu H, Lee SM, Forster MD, Ahmad T, Hiley CT, Abbosh C, Falzon M, Borg E, Marafioti T, Lawrence D, Hayward M, Kolvekar S, Panagiotopoulos N, Janes SM, Thakrar R, Ahmed A, Blackhall F, Summers Y, Shah R, Joseph L, Quinn AM, Crosbie PA, Naidu B, Middleton G, Langman G, Trotter S, Nicolson M, Remmen H, Kerr K, Chetty M, Gomersall L, Fennell DA, Nakas A, Rathinam S, Anand G, Khan S, Russell P, Ezhil V, Ismail B, Irvin-Sellers M, Prakash V, Lester JF, Kornaszewska M, Attanoos R, Adams H, Davies H, Dentro S, Taniere P, O'Sullivan B, Lowe HL, Hartley JA, Iles N, Bell H, Ngai Y, Shaw JA, Herrero J, Szallasi Z, Schwarz RF, Stewart A, Quezada SA, Le Quesne J, Van Loo P, Dive C, Hackshaw A, Swanton C; TRACERx Consortium
N Engl J Med 2017 Jun 1;376(22):2109-2121. Epub 2017 Apr 26 doi: 10.1056/NEJMoa1616288. PMID: 28445112

Recent systematic reviews

Marinelli D, Gallina FT, Pannunzio S, Di Civita MA, Torchia A, Giusti R, Gelibter AJ, Roberto M, Verrico M, Melis E, Tajè R, Cecere FL, Landi L, Nisticò P, Porciello N, Occhipinti M, Brambilla M, Forde PM, Liu SV, Botticelli A, Novello S, Ciliberto G, Cortesi E, Facciolo F, Cappuzzo F, Santini D
Crit Rev Oncol Hematol 2023 Dec;192:104190. Epub 2023 Oct 21 doi: 10.1016/j.critrevonc.2023.104190. PMID: 37871779
Agostinetto E, Vian L, Caparica R, Bruzzone M, Ceppi M, Lambertini M, Pondé N, de Azambuja E
ESMO Open 2021 Apr;6(2):100091. Epub 2021 Mar 18 doi: 10.1016/j.esmoop.2021.100091. PMID: 33743330Free PMC Article
Paracha N, Reyes A, Diéras V, Krop I, Pivot X, Urruticoechea A
Breast Cancer Res Treat 2020 Apr;180(3):597-609. Epub 2020 Feb 25 doi: 10.1007/s10549-020-05577-7. PMID: 32100144Free PMC Article
Vadcharavivad S, Saengram W, Phupradit A, Poolsup N, Chancharoenthana W
Drugs 2019 Dec;79(18):1947-1962. doi: 10.1007/s40265-019-01217-7. PMID: 31713065Free PMC Article
Chan DL, Pavlakis N, Shapiro J, Price TJ, Karapetis CS, Tebbutt NC, Segelov E
PLoS One 2015;10(8):e0135599. Epub 2015 Aug 14 doi: 10.1371/journal.pone.0135599. PMID: 26275292Free PMC Article

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