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EGFR Protein Variant

MedGen UID:
475637
•Concept ID:
C3274004
•
Cell or Molecular Dysfunction
Synonyms: Epidermal Growth Factor Receptor Protein Variant; Proto-Oncogene c-ErbB-1 Protein Variant; Receptor Tyrosine-Protein Kinase erbB-1 Protein Variant

Definition

A variation in the amino acid sequence for the epidermal growth factor receptor protein. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVEGFR Protein Variant

Professional guidelines

PubMed

Treatment-Induced Tumor Dormancy through YAP-Mediated Transcriptional Reprogramming of the Apoptotic Pathway.
Kurppa KJ, Liu Y, To C, Zhang T, Fan M, Vajdi A, Knelson EH, Xie Y, Lim K, Cejas P, Portell A, Lizotte PH, Ficarro SB, Li S, Chen T, Haikala HM, Wang H, Bahcall M, Gao Y, Shalhout S, Boettcher S, Shin BH, Thai T, Wilkens MK, Tillgren ML, Mushajiang M, Xu M, Choi J, Bertram AA, Ebert BL, Beroukhim R, Bandopadhayay P, Awad MM, Gokhale PC, Kirschmeier PT, Marto JA, Camargo FD, Haq R, Paweletz CP, Wong KK, Barbie DA, Long HW, Gray NS, Jänne PA
Cancer Cell 2020 Jan 13;37(1):104-122.e12. doi: 10.1016/j.ccell.2019.12.006. PMID: 31935369Free PMC Article
POEMS Syndrome: 2019 Update on diagnosis, risk-stratification, and management.
Dispenzieri A
Am J Hematol 2019 Jul;94(7):812-827. Epub 2019 May 23 doi: 10.1002/ajh.25495. PMID: 31012139
Driver Fusions and Their Implications in the Development and Treatment of Human Cancers.
Gao Q, Liang WW, Foltz SM, Mutharasu G, Jayasinghe RG, Cao S, Liao WW, Reynolds SM, Wyczalkowski MA, Yao L, Yu L, Sun SQ; Fusion Analysis Working Group; Cancer Genome Atlas Research Network, Chen K, Lazar AJ, Fields RC, Wendl MC, Van Tine BA, Vij R, Chen F, Nykter M, Shmulevich I, Ding L
Cell Rep 2018 Apr 3;23(1):227-238.e3. doi: 10.1016/j.celrep.2018.03.050. PMID: 29617662Free PMC Article

Recent clinical studies

Etiology

Germline EGFR Mutations and Familial Lung Cancer.
Oxnard GR, Chen R, Pharr JC, Koeller DR, Bertram AA, Dahlberg SE, Rainville I, Shane-Carson K, Taylor KA, Sable-Hunt A, Sholl LM, Teerlink CC, Thomas A, Cannon-Albright LA, Fay AP, Ashton-Prolla P, Yang H, Salvatore MM, Addario BJ, Jänne PA, Carbone DP, Wiesner GL, Garber JE
J Clin Oncol 2023 Dec 1;41(34):5274-5284. Epub 2023 Oct 23 doi: 10.1200/JCO.23.01372. PMID: 37579253
Lung cancer is also a hereditary disease.
Benusiglio PR, Fallet V, Sanchis-Borja M, Coulet F, Cadranel J
Eur Respir Rev 2021 Dec 31;30(162) Epub 2021 Oct 20 doi: 10.1183/16000617.0045-2021. PMID: 34670806Free PMC Article
Small molecule inhibitors targeting the EGFR/ErbB family of protein-tyrosine kinases in human cancers.
Roskoski R Jr
Pharmacol Res 2019 Jan;139:395-411. Epub 2018 Nov 27 doi: 10.1016/j.phrs.2018.11.014. PMID: 30500458
Driver Fusions and Their Implications in the Development and Treatment of Human Cancers.
Gao Q, Liang WW, Foltz SM, Mutharasu G, Jayasinghe RG, Cao S, Liao WW, Reynolds SM, Wyczalkowski MA, Yao L, Yu L, Sun SQ; Fusion Analysis Working Group; Cancer Genome Atlas Research Network, Chen K, Lazar AJ, Fields RC, Wendl MC, Van Tine BA, Vij R, Chen F, Nykter M, Shmulevich I, Ding L
Cell Rep 2018 Apr 3;23(1):227-238.e3. doi: 10.1016/j.celrep.2018.03.050. PMID: 29617662Free PMC Article
Reversible and adaptive resistance to BRAF(V600E) inhibition in melanoma.
Sun C, Wang L, Huang S, Heynen GJ, Prahallad A, Robert C, Haanen J, Blank C, Wesseling J, Willems SM, Zecchin D, Hobor S, Bajpe PK, Lieftink C, Mateus C, Vagner S, Grernrum W, Hofland I, Schlicker A, Wessels LF, Beijersbergen RL, Bardelli A, Di Nicolantonio F, Eggermont AM, Bernards R
Nature 2014 Apr 3;508(7494):118-22. Epub 2014 Mar 26 doi: 10.1038/nature13121. PMID: 24670642

Diagnosis

Germline EGFR Mutations and Familial Lung Cancer.
Oxnard GR, Chen R, Pharr JC, Koeller DR, Bertram AA, Dahlberg SE, Rainville I, Shane-Carson K, Taylor KA, Sable-Hunt A, Sholl LM, Teerlink CC, Thomas A, Cannon-Albright LA, Fay AP, Ashton-Prolla P, Yang H, Salvatore MM, Addario BJ, Jänne PA, Carbone DP, Wiesner GL, Garber JE
J Clin Oncol 2023 Dec 1;41(34):5274-5284. Epub 2023 Oct 23 doi: 10.1200/JCO.23.01372. PMID: 37579253
Abnormally activated OPN/integrin αVβ3/FAK signalling is responsible for EGFR-TKI resistance in EGFR mutant non-small-cell lung cancer.
Fu Y, Zhang Y, Lei Z, Liu T, Cai T, Wang A, Du W, Zeng Y, Zhu J, Liu Z, Huang JA
J Hematol Oncol 2020 Dec 7;13(1):169. doi: 10.1186/s13045-020-01009-7. PMID: 33287873Free PMC Article
EGFR-TKI resistance promotes immune escape in lung cancer via increased PD-L1 expression.
Peng S, Wang R, Zhang X, Ma Y, Zhong L, Li K, Nishiyama A, Arai S, Yano S, Wang W
Mol Cancer 2019 Nov 20;18(1):165. doi: 10.1186/s12943-019-1073-4. PMID: 31747941Free PMC Article
Cutaneous adverse effects of targeted therapies: Part I: Inhibitors of the cellular membrane.
Macdonald JB, Macdonald B, Golitz LE, LoRusso P, Sekulic A
J Am Acad Dermatol 2015 Feb;72(2):203-18; quiz 219-20. doi: 10.1016/j.jaad.2014.07.032. PMID: 25592338
Activating mutations in the epidermal growth factor receptor underlying responsiveness of non-small-cell lung cancer to gefitinib.
Lynch TJ, Bell DW, Sordella R, Gurubhagavatula S, Okimoto RA, Brannigan BW, Harris PL, Haserlat SM, Supko JG, Haluska FG, Louis DN, Christiani DC, Settleman J, Haber DA
N Engl J Med 2004 May 20;350(21):2129-39. Epub 2004 Apr 29 doi: 10.1056/NEJMoa040938. PMID: 15118073

Therapy

Intraventricular CARv3-TEAM-E T Cells in Recurrent Glioblastoma.
Choi BD, Gerstner ER, Frigault MJ, Leick MB, Mount CW, Balaj L, Nikiforow S, Carter BS, Curry WT, Gallagher K, Maus MV
N Engl J Med 2024 Apr 11;390(14):1290-1298. Epub 2024 Mar 13 doi: 10.1056/NEJMoa2314390. PMID: 38477966
Perioperative targeted therapy for oncogene-driven NSCLC.
Liu SY, Zhang JT, Zeng KH, Wu YL
Lung Cancer 2022 Oct;172:160-169. Epub 2022 May 21 doi: 10.1016/j.lungcan.2022.05.007. PMID: 35644704
Molecular alterations and targeted therapy in pancreatic ductal adenocarcinoma.
Qian Y, Gong Y, Fan Z, Luo G, Huang Q, Deng S, Cheng H, Jin K, Ni Q, Yu X, Liu C
J Hematol Oncol 2020 Oct 2;13(1):130. doi: 10.1186/s13045-020-00958-3. PMID: 33008426Free PMC Article
EGFR Blockade Reverts Resistance to KRAS(G12C) Inhibition in Colorectal Cancer.
Amodio V, Yaeger R, Arcella P, Cancelliere C, Lamba S, Lorenzato A, Arena S, Montone M, Mussolin B, Bian Y, Whaley A, Pinnelli M, Murciano-Goroff YR, Vakiani E, Valeri N, Liao WL, Bhalkikar A, Thyparambil S, Zhao HY, de Stanchina E, Marsoni S, Siena S, Bertotti A, Trusolino L, Li BT, Rosen N, Di Nicolantonio F, Bardelli A, Misale S
Cancer Discov 2020 Aug;10(8):1129-1139. Epub 2020 May 19 doi: 10.1158/2159-8290.CD-20-0187. PMID: 32430388Free PMC Article
MET inhibitors for targeted therapy of EGFR TKI-resistant lung cancer.
Wang Q, Yang S, Wang K, Sun SY
J Hematol Oncol 2019 Jun 21;12(1):63. doi: 10.1186/s13045-019-0759-9. PMID: 31227004Free PMC Article

Prognosis

Molecular alterations and targeted therapy in pancreatic ductal adenocarcinoma.
Qian Y, Gong Y, Fan Z, Luo G, Huang Q, Deng S, Cheng H, Jin K, Ni Q, Yu X, Liu C
J Hematol Oncol 2020 Oct 2;13(1):130. doi: 10.1186/s13045-020-00958-3. PMID: 33008426Free PMC Article
KRAS, NRAS, BRAF, HER2 and microsatellite instability in metastatic colorectal cancer - practical implications for the clinician.
Afrăsânie VA, Marinca MV, Alexa-Stratulat T, Gafton B, Păduraru M, Adavidoaiei AM, Miron L, Rusu C
Radiol Oncol 2019 Sep 24;53(3):265-274. doi: 10.2478/raon-2019-0033. PMID: 31553708Free PMC Article
Response to Anti-EGFR Therapy in Patients with BRAF non-V600-Mutant Metastatic Colorectal Cancer.
Yaeger R, Kotani D, Mondaca S, Parikh AR, Bando H, Van Seventer EE, Taniguchi H, Zhao H, Thant CN, de Stanchina E, Rosen N, Corcoran RB, Yoshino T, Yao Z, Ebi H
Clin Cancer Res 2019 Dec 1;25(23):7089-7097. Epub 2019 Sep 12 doi: 10.1158/1078-0432.CCR-19-2004. PMID: 31515458Free PMC Article
Concurrent RB1 and TP53 Alterations Define a Subset of EGFR-Mutant Lung Cancers at risk for Histologic Transformation and Inferior Clinical Outcomes.
Offin M, Chan JM, Tenet M, Rizvi HA, Shen R, Riely GJ, Rekhtman N, Daneshbod Y, Quintanal-Villalonga A, Penson A, Hellmann MD, Arcila ME, Ladanyi M, Pe'er D, Kris MG, Rudin CM, Yu HA
J Thorac Oncol 2019 Oct;14(10):1784-1793. Epub 2019 Jun 19 doi: 10.1016/j.jtho.2019.06.002. PMID: 31228622Free PMC Article
Unresponsiveness of colon cancer to BRAF(V600E) inhibition through feedback activation of EGFR.
Prahallad A, Sun C, Huang S, Di Nicolantonio F, Salazar R, Zecchin D, Beijersbergen RL, Bardelli A, Bernards R
Nature 2012 Jan 26;483(7387):100-3. doi: 10.1038/nature10868. PMID: 22281684

Clinical prediction guides

Molecular alterations and targeted therapy in pancreatic ductal adenocarcinoma.
Qian Y, Gong Y, Fan Z, Luo G, Huang Q, Deng S, Cheng H, Jin K, Ni Q, Yu X, Liu C
J Hematol Oncol 2020 Oct 2;13(1):130. doi: 10.1186/s13045-020-00958-3. PMID: 33008426Free PMC Article
Clinical and analytical validation of FoundationOne Liquid CDx, a novel 324-Gene cfDNA-based comprehensive genomic profiling assay for cancers of solid tumor origin.
Woodhouse R, Li M, Hughes J, Delfosse D, Skoletsky J, Ma P, Meng W, Dewal N, Milbury C, Clark T, Donahue A, Stover D, Kennedy M, Dacpano-Komansky J, Burns C, Vietz C, Alexander B, Hegde P, Dennis L
PLoS One 2020;15(9):e0237802. Epub 2020 Sep 25 doi: 10.1371/journal.pone.0237802. PMID: 32976510Free PMC Article
Response to Anti-EGFR Therapy in Patients with BRAF non-V600-Mutant Metastatic Colorectal Cancer.
Yaeger R, Kotani D, Mondaca S, Parikh AR, Bando H, Van Seventer EE, Taniguchi H, Zhao H, Thant CN, de Stanchina E, Rosen N, Corcoran RB, Yoshino T, Yao Z, Ebi H
Clin Cancer Res 2019 Dec 1;25(23):7089-7097. Epub 2019 Sep 12 doi: 10.1158/1078-0432.CCR-19-2004. PMID: 31515458Free PMC Article
Cutaneous adverse effects of targeted therapies: Part I: Inhibitors of the cellular membrane.
Macdonald JB, Macdonald B, Golitz LE, LoRusso P, Sekulic A
J Am Acad Dermatol 2015 Feb;72(2):203-18; quiz 219-20. doi: 10.1016/j.jaad.2014.07.032. PMID: 25592338
Activating mutations in the epidermal growth factor receptor underlying responsiveness of non-small-cell lung cancer to gefitinib.
Lynch TJ, Bell DW, Sordella R, Gurubhagavatula S, Okimoto RA, Brannigan BW, Harris PL, Haserlat SM, Supko JG, Haluska FG, Louis DN, Christiani DC, Settleman J, Haber DA
N Engl J Med 2004 May 20;350(21):2129-39. Epub 2004 Apr 29 doi: 10.1056/NEJMoa040938. PMID: 15118073

Recent systematic reviews

Prognostic and predictive biomarkers for anti-EGFR monoclonal antibody therapy in RAS wild-type metastatic colorectal cancer: a systematic review and meta-analysis.
Lu X, Li Y, Li Y, Zhang X, Shi J, Feng H, Yu Z, Gao Y
BMC Cancer 2023 Nov 16;23(1):1117. doi: 10.1186/s12885-023-11600-z. PMID: 37974093Free PMC Article
BRAF inhibitors in BRAF V600E-mutated ameloblastoma: systematic review of rare cases in the literature.
Ebeling M, Scheurer M, Sakkas A, Pietzka S, Schramm A, Wilde F
Med Oncol 2023 Apr 28;40(6):163. doi: 10.1007/s12032-023-01993-z. PMID: 37115331Free PMC Article
Clinical Activity of Mitogen-Activated Protein Kinase-Targeted Therapies in Patients With Non-V600 BRAF-Mutant Tumors.
Dankner M, Wang Y, Fazelzad R, Johnson B, Nebhan CA, Dagogo-Jack I, Myall NJ, Richtig G, Bracht JWP, Gerlinger M, Shinozaki E, Yoshino T, Kotani D, Fangusaro JR, Gautschi O, Mazieres J, Sosman JA, Kopetz S, Subbiah V, Davies MA, Groover AL, Sullivan RJ, Flaherty KT, Johnson DB, Benedetti A, Cescon DW, Spreafico A, Zogopoulos G, Rose AAN
JCO Precis Oncol 2022 Aug;6:e2200107. doi: 10.1200/PO.22.00107. PMID: 35977349Free PMC Article
Epidermal growth factor receptor (EGFR) inhibitors for metastatic colorectal cancer.
Chan DLH, Segelov E, Wong RS, Smith A, Herbertson RA, Li BT, Tebbutt N, Price T, Pavlakis N
Cochrane Database Syst Rev 2017 Jun 27;6(6):CD007047. doi: 10.1002/14651858.CD007047.pub2. PMID: 28654140Free PMC Article
A systematic review and meta-analysis of KRAS status as the determinant of response to anti-EGFR antibodies and the impact of partner chemotherapy in metastatic colorectal cancer.
Adelstein BA, Dobbins TA, Harris CA, Marschner IC, Ward RL
Eur J Cancer 2011 Jun;47(9):1343-54. Epub 2011 May 5 doi: 10.1016/j.ejca.2011.03.031. PMID: 21550229

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