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Inactivating ERBB2 Gene Mutation

MedGen UID:
1645064
Concept ID:
C4688379
Cell or Molecular Dysfunction
Synonyms: CD340 Inactivating Mutation; HER-2 Inactivating Mutation; HER2 Inactivating Mutation; HER2/Neu Inactivating Mutation; Inactivating HER2 Mutation; Loss of Function ERBB2 Mutation; Loss of Function HER2 Mutation

Definition

A change in the nucleotide sequence of the ERBB2 gene that either inhibits expression of the receptor tyrosine-protein kinase erbB-2 protein or results in the translation of an inactive receptor tyrosine-protein kinase erbB-2 protein. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVInactivating ERBB2 Gene Mutation

Professional guidelines

PubMed

Chau NG, Li YY, Jo VY, Rabinowits G, Lorch JH, Tishler RB, Margalit DN, Schoenfeld JD, Annino DJ, Goguen LA, Thomas T, Becker H, Haddad T, Krane JF, Lindeman NI, Shapiro GI, Haddad RI, Hammerman PS
Clin Cancer Res 2016 Jun 15;22(12):2939-49. Epub 2016 Jan 13 doi: 10.1158/1078-0432.CCR-15-2314. PMID: 26763254

Recent clinical studies

Etiology

He J, Nascakova Z, Leary P, Papa G, Valenta T, Basler K, Müller A
Sci Adv 2023 Nov 17;9(46):eadh0322. Epub 2023 Nov 15 doi: 10.1126/sciadv.adh0322. PMID: 37967175Free PMC Article
Majewska H, Gorczyński A, Czapiewski P, Menon R, Mueller J, Lakis S, Heuckmann JM, Laco J, Gupta R, Andreasen S, Stodulski D, Iliszko M, Dziadziuszko R, Jassem J, Heukamp LC, Biernat W
Virchows Arch 2021 May;478(5):933-941. Epub 2020 Nov 25 doi: 10.1007/s00428-020-02971-w. PMID: 33237469Free PMC Article
Lee G, Jeong YS, Kim DW, Kwak MJ, Koh J, Joo EW, Lee JS, Kah S, Sim YE, Yim SY
Exp Mol Med 2018 Nov 14;50(11):1-12. doi: 10.1038/s12276-018-0174-2. PMID: 30429453Free PMC Article
Leighton X, Eidelman O, Jozwik C, Pollard HB, Srivastava M
Methods Mol Biol 2017;1513:23-35. doi: 10.1007/978-1-4939-6539-7_3. PMID: 27807828
Ojesina AI, Lichtenstein L, Freeman SS, Pedamallu CS, Imaz-Rosshandler I, Pugh TJ, Cherniack AD, Ambrogio L, Cibulskis K, Bertelsen B, Romero-Cordoba S, Treviño V, Vazquez-Santillan K, Guadarrama AS, Wright AA, Rosenberg MW, Duke F, Kaplan B, Wang R, Nickerson E, Walline HM, Lawrence MS, Stewart C, Carter SL, McKenna A, Rodriguez-Sanchez IP, Espinosa-Castilla M, Woie K, Bjorge L, Wik E, Halle MK, Hoivik EA, Krakstad C, Gabiño NB, Gómez-Macías GS, Valdez-Chapa LD, Garza-Rodríguez ML, Maytorena G, Vazquez J, Rodea C, Cravioto A, Cortes ML, Greulich H, Crum CP, Neuberg DS, Hidalgo-Miranda A, Escareno CR, Akslen LA, Carey TE, Vintermyr OK, Gabriel SB, Barrera-Saldaña HA, Melendez-Zajgla J, Getz G, Salvesen HB, Meyerson M
Nature 2014 Feb 20;506(7488):371-5. Epub 2013 Dec 25 doi: 10.1038/nature12881. PMID: 24390348Free PMC Article

Diagnosis

Kashofer K, Regauer S, Reich O, Petru E, Winter E
Gynecol Oncol 2022 Apr;165(1):121-128. Epub 2022 Jan 31 doi: 10.1016/j.ygyno.2022.01.020. PMID: 35101299
Howarth KD, Mirza T, Cooke SL, Chin SF, Pole JC, Turro E, Eldridge MD, Garcia RM, Rueda OM, Boursnell C, Abraham JE, Caldas C, Edwards PAW
Breast Cancer Res 2021 Jan 7;23(1):3. doi: 10.1186/s13058-020-01377-5. PMID: 33413557Free PMC Article
Leighton X, Eidelman O, Jozwik C, Pollard HB, Srivastava M
Methods Mol Biol 2017;1513:23-35. doi: 10.1007/978-1-4939-6539-7_3. PMID: 27807828
Gu Y, Li P, Peng F, Zhang M, Zhang Y, Liang H, Zhao W, Qi L, Wang H, Wang C, Guo Z
Mol Carcinog 2016 Mar;55(3):292-9. Epub 2015 Jan 25 doi: 10.1002/mc.22278. PMID: 25620657
Ghaneh P, Kawesha A, Evans JD, Neoptolemos JP
J Hepatobiliary Pancreat Surg 2002;9(1):1-11. doi: 10.1007/s005340200000. PMID: 12021893

Therapy

Sivapiragasam A, Ashok Kumar P, Sokol ES, Albacker LA, Killian JK, Ramkissoon SH, Huang RSP, Severson EA, Brown CA, Danziger N, McGregor K, Ross JS
Cancer Med 2021 Jan;10(1):53-61. Epub 2020 Dec 12 doi: 10.1002/cam4.3550. PMID: 33314633Free PMC Article
Zanini E, Louis LS, Antony J, Karali E, Okon IS, McKie AB, Vaughan S, El-Bahrawy M, Stebbing J, Recchi C, Gabra H
Mol Cancer Ther 2017 Oct;16(10):2246-2256. Epub 2017 Aug 3 doi: 10.1158/1535-7163.MCT-17-0081. PMID: 28775148
Leighton X, Eidelman O, Jozwik C, Pollard HB, Srivastava M
Methods Mol Biol 2017;1513:23-35. doi: 10.1007/978-1-4939-6539-7_3. PMID: 27807828
Cerezo L, Cárdenes H, Michael H
Clin Transl Oncol 2006 Apr;8(4):231-41. doi: 10.1007/BF02664933. PMID: 16648098
Neckers L, Ivy SP
Curr Opin Oncol 2003 Nov;15(6):419-24. doi: 10.1097/00001622-200311000-00003. PMID: 14624223

Prognosis

Kashofer K, Regauer S, Reich O, Petru E, Winter E
Gynecol Oncol 2022 Apr;165(1):121-128. Epub 2022 Jan 31 doi: 10.1016/j.ygyno.2022.01.020. PMID: 35101299
Howarth KD, Mirza T, Cooke SL, Chin SF, Pole JC, Turro E, Eldridge MD, Garcia RM, Rueda OM, Boursnell C, Abraham JE, Caldas C, Edwards PAW
Breast Cancer Res 2021 Jan 7;23(1):3. doi: 10.1186/s13058-020-01377-5. PMID: 33413557Free PMC Article
Oue N, Sentani K, Sakamoto N, Uraoka N, Yasui W
Int J Clin Oncol 2019 Jul;24(7):771-778. Epub 2019 Apr 12 doi: 10.1007/s10147-019-01443-9. PMID: 30980196
Lee G, Jeong YS, Kim DW, Kwak MJ, Koh J, Joo EW, Lee JS, Kah S, Sim YE, Yim SY
Exp Mol Med 2018 Nov 14;50(11):1-12. doi: 10.1038/s12276-018-0174-2. PMID: 30429453Free PMC Article
Ghaneh P, Kawesha A, Evans JD, Neoptolemos JP
J Hepatobiliary Pancreat Surg 2002;9(1):1-11. doi: 10.1007/s005340200000. PMID: 12021893

Clinical prediction guides

Howarth KD, Mirza T, Cooke SL, Chin SF, Pole JC, Turro E, Eldridge MD, Garcia RM, Rueda OM, Boursnell C, Abraham JE, Caldas C, Edwards PAW
Breast Cancer Res 2021 Jan 7;23(1):3. doi: 10.1186/s13058-020-01377-5. PMID: 33413557Free PMC Article
Oue N, Sentani K, Sakamoto N, Uraoka N, Yasui W
Int J Clin Oncol 2019 Jul;24(7):771-778. Epub 2019 Apr 12 doi: 10.1007/s10147-019-01443-9. PMID: 30980196
Leighton X, Eidelman O, Jozwik C, Pollard HB, Srivastava M
Methods Mol Biol 2017;1513:23-35. doi: 10.1007/978-1-4939-6539-7_3. PMID: 27807828
Ojesina AI, Lichtenstein L, Freeman SS, Pedamallu CS, Imaz-Rosshandler I, Pugh TJ, Cherniack AD, Ambrogio L, Cibulskis K, Bertelsen B, Romero-Cordoba S, Treviño V, Vazquez-Santillan K, Guadarrama AS, Wright AA, Rosenberg MW, Duke F, Kaplan B, Wang R, Nickerson E, Walline HM, Lawrence MS, Stewart C, Carter SL, McKenna A, Rodriguez-Sanchez IP, Espinosa-Castilla M, Woie K, Bjorge L, Wik E, Halle MK, Hoivik EA, Krakstad C, Gabiño NB, Gómez-Macías GS, Valdez-Chapa LD, Garza-Rodríguez ML, Maytorena G, Vazquez J, Rodea C, Cravioto A, Cortes ML, Greulich H, Crum CP, Neuberg DS, Hidalgo-Miranda A, Escareno CR, Akslen LA, Carey TE, Vintermyr OK, Gabriel SB, Barrera-Saldaña HA, Melendez-Zajgla J, Getz G, Salvesen HB, Meyerson M
Nature 2014 Feb 20;506(7488):371-5. Epub 2013 Dec 25 doi: 10.1038/nature12881. PMID: 24390348Free PMC Article
Børresen AL
Acta Obstet Gynecol Scand Suppl 1992;155:25-30. doi: 10.1111/j.1600-0412.1992.tb00004.x. PMID: 1502889

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