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ERBB2 Gene Amplification

MedGen UID:
268775
•Concept ID:
C1512127
•
Disease or Syndrome
Synonyms: c-erbB2 Gene Activation; c-erbB2 Gene Amplification; ERBB2 Amplification; HER-2 Gene Amplification; HER2 Amplification; HER2 Gene Amplification; HER2/Neu Amplification

Definition

A molecular genetic abnormality indicating the presence of multiple copies of the ERBB2 gene. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVERBB2 Gene Amplification

Professional guidelines

PubMed

Therapeutic potential of lectins in the treatment of breast cancer: A review.
Bektas S, Kaptan E
Int J Biol Macromol 2023 Sep 30;249:126073. Epub 2023 Aug 2 doi: 10.1016/j.ijbiomac.2023.126073. PMID: 37536407
Comparison of Management and Outcomes in ERBB2-Low vs ERBB2-Zero Metastatic Breast Cancer in France.
de Calbiac O, Lusque A, Mailliez A, Bachelot T, Uwer L, Mouret-Reynier MA, Emile G, Jouannaud C, Gonçalves A, Patsouris A, Diéras V, Leheurteur M, Petit T, Cottu P, Ferrero JM, D'Hondt V, Desmoulins I, Mourato-Ribeiro J, Martin AL, Frenel JS
JAMA Netw Open 2022 Sep 1;5(9):e2231170. doi: 10.1001/jamanetworkopen.2022.31170. PMID: 36107428Free PMC Article
Breast Cancer Treatment: A Review.
Waks AG, Winer EP
JAMA 2019 Jan 22;321(3):288-300. doi: 10.1001/jama.2018.19323. PMID: 30667505

Recent clinical studies

Etiology

Landscape of HER2-low breast cancer: Insights from a six-year study on prevalence and clinicopathological characteristics.
Khalil MA, Habibian L, Martin C, Semaan K, Khaddage A, El Kassis N, Kesserouani C, Kourie HR, Atallah D
Ann Diagn Pathol 2024 Oct;72:152326. Epub 2024 May 12 doi: 10.1016/j.anndiagpath.2024.152326. PMID: 38759564
Therapeutic potential of lectins in the treatment of breast cancer: A review.
Bektas S, Kaptan E
Int J Biol Macromol 2023 Sep 30;249:126073. Epub 2023 Aug 2 doi: 10.1016/j.ijbiomac.2023.126073. PMID: 37536407
Comparison of Management and Outcomes in ERBB2-Low vs ERBB2-Zero Metastatic Breast Cancer in France.
de Calbiac O, Lusque A, Mailliez A, Bachelot T, Uwer L, Mouret-Reynier MA, Emile G, Jouannaud C, Gonçalves A, Patsouris A, Diéras V, Leheurteur M, Petit T, Cottu P, Ferrero JM, D'Hondt V, Desmoulins I, Mourato-Ribeiro J, Martin AL, Frenel JS
JAMA Netw Open 2022 Sep 1;5(9):e2231170. doi: 10.1001/jamanetworkopen.2022.31170. PMID: 36107428Free PMC Article
Breast Cancer Treatment: A Review.
Waks AG, Winer EP
JAMA 2019 Jan 22;321(3):288-300. doi: 10.1001/jama.2018.19323. PMID: 30667505
ERBB2 gene amplification in oral squamous cell malignancies: a correlation with tumor progression and gene expression.
Chu F, Feng Q, Qian Y, Zhang C, Fang Z, Shen G
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2011 Jul;112(1):90-5. Epub 2011 Apr 30 doi: 10.1016/j.tripleo.2011.01.026. PMID: 21531597

Diagnosis

ERBB2 amplification status in 67 salivary duct carcinomas assessed by immunohistochemistry, fluorescence in situ hybridization, and targeted exome sequencing.
Ferguson DC, Momeni Boroujeni A, Zheng T, Mohanty AS, Ho AL, Arcila ME, Ross DS, Dogan S
Mod Pathol 2022 Jul;35(7):895-902. Epub 2021 Dec 28 doi: 10.1038/s41379-021-00999-0. PMID: 34963694Free PMC Article
Clinicopathological value of ErbB2 gene and protein expression in osteochondroma.
Huang Z, Wang SL, Huang QS, Li XD, Chen H, Lin JH
Acta Orthop Traumatol Turc 2020 Jan;54(1):34-41. doi: 10.5152/j.aott.2020.01.484. PMID: 32175895Free PMC Article
Breast Cancer Treatment: A Review.
Waks AG, Winer EP
JAMA 2019 Jan 22;321(3):288-300. doi: 10.1001/jama.2018.19323. PMID: 30667505
PRP4K is a HER2-regulated modifier of taxane sensitivity.
Corkery DP, Le Page C, Meunier L, Provencher D, Mes-Masson AM, Dellaire G
Cell Cycle 2015;14(7):1059-69. doi: 10.1080/15384101.2015.1007775. PMID: 25602630Free PMC Article
Treating the HER2 pathway in early and advanced breast cancer.
Pegram MD
Hematol Oncol Clin North Am 2013 Aug;27(4):751-65, viii. doi: 10.1016/j.hoc.2013.05.007. PMID: 23915743

Therapy

The DNA repair pathway as a therapeutic target to synergize with trastuzumab deruxtecan in HER2-targeted antibody-drug conjugate-resistant HER2-overexpressing breast cancer.
Lee J, Kida K, Koh J, Liu H, Manyam GC, Gi YJ, Rampa DR, Multani AS, Wang J, Jayachandran G, Lee DW, Reuben JM, Sahin A, Huo L, Tripathy D, Im SA, Ueno NT
J Exp Clin Cancer Res 2024 Aug 21;43(1):236. doi: 10.1186/s13046-024-03143-3. PMID: 39164784Free PMC Article
In Vivo and In Vitro Efficacy of Trastuzumab Deruxtecan in Uterine Serous Carcinoma.
Mutlu L, Manavella DD, Bellone S, McNamara B, Harold JA, Mauricio D, Siegel ER, Buza N, Hui P, Hartwich TMP, Yang-Hartwich Y, Demirkiran C, Verzosa MSZ, Altwerger G, Ratner ES, Huang GS, Clark M, Andikyan V, Azodi M, Dottino PR, Schwartz PE, Santin AD
Mol Cancer Ther 2023 Dec 1;22(12):1404-1412. doi: 10.1158/1535-7163.MCT-23-0126. PMID: 37676984
Therapeutic potential of lectins in the treatment of breast cancer: A review.
Bektas S, Kaptan E
Int J Biol Macromol 2023 Sep 30;249:126073. Epub 2023 Aug 2 doi: 10.1016/j.ijbiomac.2023.126073. PMID: 37536407
Breast Cancer Treatment: A Review.
Waks AG, Winer EP
JAMA 2019 Jan 22;321(3):288-300. doi: 10.1001/jama.2018.19323. PMID: 30667505
Treating the HER2 pathway in early and advanced breast cancer.
Pegram MD
Hematol Oncol Clin North Am 2013 Aug;27(4):751-65, viii. doi: 10.1016/j.hoc.2013.05.007. PMID: 23915743

Prognosis

In Vivo and In Vitro Efficacy of Trastuzumab Deruxtecan in Uterine Serous Carcinoma.
Mutlu L, Manavella DD, Bellone S, McNamara B, Harold JA, Mauricio D, Siegel ER, Buza N, Hui P, Hartwich TMP, Yang-Hartwich Y, Demirkiran C, Verzosa MSZ, Altwerger G, Ratner ES, Huang GS, Clark M, Andikyan V, Azodi M, Dottino PR, Schwartz PE, Santin AD
Mol Cancer Ther 2023 Dec 1;22(12):1404-1412. doi: 10.1158/1535-7163.MCT-23-0126. PMID: 37676984
Comparison of Management and Outcomes in ERBB2-Low vs ERBB2-Zero Metastatic Breast Cancer in France.
de Calbiac O, Lusque A, Mailliez A, Bachelot T, Uwer L, Mouret-Reynier MA, Emile G, Jouannaud C, Gonçalves A, Patsouris A, Diéras V, Leheurteur M, Petit T, Cottu P, Ferrero JM, D'Hondt V, Desmoulins I, Mourato-Ribeiro J, Martin AL, Frenel JS
JAMA Netw Open 2022 Sep 1;5(9):e2231170. doi: 10.1001/jamanetworkopen.2022.31170. PMID: 36107428Free PMC Article
Clinicopathological value of ErbB2 gene and protein expression in osteochondroma.
Huang Z, Wang SL, Huang QS, Li XD, Chen H, Lin JH
Acta Orthop Traumatol Turc 2020 Jan;54(1):34-41. doi: 10.5152/j.aott.2020.01.484. PMID: 32175895Free PMC Article
Breast Cancer Treatment: A Review.
Waks AG, Winer EP
JAMA 2019 Jan 22;321(3):288-300. doi: 10.1001/jama.2018.19323. PMID: 30667505
Treating the HER2 pathway in early and advanced breast cancer.
Pegram MD
Hematol Oncol Clin North Am 2013 Aug;27(4):751-65, viii. doi: 10.1016/j.hoc.2013.05.007. PMID: 23915743

Clinical prediction guides

Landscape of HER2-low breast cancer: Insights from a six-year study on prevalence and clinicopathological characteristics.
Khalil MA, Habibian L, Martin C, Semaan K, Khaddage A, El Kassis N, Kesserouani C, Kourie HR, Atallah D
Ann Diagn Pathol 2024 Oct;72:152326. Epub 2024 May 12 doi: 10.1016/j.anndiagpath.2024.152326. PMID: 38759564
Comparison of Management and Outcomes in ERBB2-Low vs ERBB2-Zero Metastatic Breast Cancer in France.
de Calbiac O, Lusque A, Mailliez A, Bachelot T, Uwer L, Mouret-Reynier MA, Emile G, Jouannaud C, Gonçalves A, Patsouris A, Diéras V, Leheurteur M, Petit T, Cottu P, Ferrero JM, D'Hondt V, Desmoulins I, Mourato-Ribeiro J, Martin AL, Frenel JS
JAMA Netw Open 2022 Sep 1;5(9):e2231170. doi: 10.1001/jamanetworkopen.2022.31170. PMID: 36107428Free PMC Article
Clinicopathological value of ErbB2 gene and protein expression in osteochondroma.
Huang Z, Wang SL, Huang QS, Li XD, Chen H, Lin JH
Acta Orthop Traumatol Turc 2020 Jan;54(1):34-41. doi: 10.5152/j.aott.2020.01.484. PMID: 32175895Free PMC Article
Breast Cancer Treatment: A Review.
Waks AG, Winer EP
JAMA 2019 Jan 22;321(3):288-300. doi: 10.1001/jama.2018.19323. PMID: 30667505
ERBB2 gene amplification in oral squamous cell malignancies: a correlation with tumor progression and gene expression.
Chu F, Feng Q, Qian Y, Zhang C, Fang Z, Shen G
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2011 Jul;112(1):90-5. Epub 2011 Apr 30 doi: 10.1016/j.tripleo.2011.01.026. PMID: 21531597

Recent systematic reviews

The evolving panorama of HER2-targeted treatments in metastatic urothelial cancer: A systematic review and future perspectives.
Patelli G, Zeppellini A, Spina F, Righetti E, Stabile S, Amatu A, Tosi F, Ghezzi S, Siena S, Sartore-Bianchi A
Cancer Treat Rev 2022 Mar;104:102351. Epub 2022 Jan 31 doi: 10.1016/j.ctrv.2022.102351. PMID: 35180563

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