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ERBB2 Gene Mutation

MedGen UID:
474720
•Concept ID:
C3273087
•
Cell or Molecular Dysfunction
Synonyms: Erb-B2 Receptor Tyrosine Kinase 2 Gene Mutation; HER2 Gene Mutation; HER2/neu Gene Mutation; NEU Gene Mutation; v-Erb-B2 Avian Erythroblastic Leukemia Viral Oncogene Homolog 2 Gene Mutation

Definition

A molecular genetic abnormality indicating the presence of a mutation in the ERBB2 gene on chromosome 17q12. [from NCI]

Professional guidelines

PubMed

Prospective, Multi-Institutional, Real-Time Next-Generation Sequencing of Pancreatic Cyst Fluid Reveals Diverse Genomic Alterations That Improve the Clinical Management of Pancreatic Cysts.
Paniccia A, Polanco PM, Boone BA, Wald AI, McGrath K, Brand RE, Khalid A, Kubiliun N, O'Broin-Lennon AM, Park WG, Klapman J, Tharian B, Inamdar S, Fasanella K, Nasr J, Chennat J, Das R, DeWitt J, Easler JJ, Bick B, Singh H, Fairley KJ, Sarkaria S, Sawas T, Skef W, Slivka A, Tavakkoli A, Thakkar S, Kim V, Vanderveldt HD, Richardson A, Wallace MB, Brahmbhatt B, Engels M, Gabbert C, Dugum M, El-Dika S, Bhat Y, Ramrakhiani S, Bakis G, Rolshud D, Millspaugh G, Tielleman T, Schmidt C, Mansour J, Marsh W, Ongchin M, Centeno B, Monaco SE, Ohori NP, Lajara S, Thompson ED, Hruban RH, Bell PD, Smith K, Permuth JB, Vandenbussche C, Ernst W, Grupillo M, Kaya C, Hogg M, He J, Wolfgang CL, Lee KK, Zeh H, Zureikat A, Nikiforova MN, Singhi AD
Gastroenterology 2023 Jan;164(1):117-133.e7. Epub 2022 Oct 6 doi: 10.1053/j.gastro.2022.09.028. PMID: 36209796Free PMC Article
Genomic and Transcriptomic Landscape of Triple-Negative Breast Cancers: Subtypes and Treatment Strategies.
Jiang YZ, Ma D, Suo C, Shi J, Xue M, Hu X, Xiao Y, Yu KD, Liu YR, Yu Y, Zheng Y, Li X, Zhang C, Hu P, Zhang J, Hua Q, Zhang J, Hou W, Ren L, Bao D, Li B, Yang J, Yao L, Zuo WJ, Zhao S, Gong Y, Ren YX, Zhao YX, Yang YS, Niu Z, Cao ZG, Stover DG, Verschraegen C, Kaklamani V, Daemen A, Benson JR, Takabe K, Bai F, Li DQ, Wang P, Shi L, Huang W, Shao ZM
Cancer Cell 2019 Mar 18;35(3):428-440.e5. Epub 2019 Mar 7 doi: 10.1016/j.ccell.2019.02.001. PMID: 30853353
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

Near Complete Response to Platinum-based Systemic Chemotherapy in High-risk Upper Tract Urothelial Carcinoma With an ERBB2 Gene Mutation: A Case Report.
Weiss K, Abimbola O, Miller K, Kim WY, Rose TL, Bjurlin MA, Gessner KH
Urology 2024 Feb;184:75-78. Epub 2023 Dec 3 doi: 10.1016/j.urology.2023.11.019. PMID: 38052324Free PMC Article
Genomic profiling of gallbladder carcinoma: Targetable mutations and pathways involved.
Mishra S, Kumari S, Srivastava P, Pandey A, Shukla S, Husain N
Pathol Res Pract 2022 Apr;232:153806. Epub 2022 Feb 12 doi: 10.1016/j.prp.2022.153806. PMID: 35231860

Therapy

Near Complete Response to Platinum-based Systemic Chemotherapy in High-risk Upper Tract Urothelial Carcinoma With an ERBB2 Gene Mutation: A Case Report.
Weiss K, Abimbola O, Miller K, Kim WY, Rose TL, Bjurlin MA, Gessner KH
Urology 2024 Feb;184:75-78. Epub 2023 Dec 3 doi: 10.1016/j.urology.2023.11.019. PMID: 38052324Free PMC Article
ERBB2 juxtamembrane domain (trastuzumab binding site) gene mutation is a rare event in invasive breast cancers overexpressing the ERBB2 gene.
Khoury T, Mojica W, Hicks D, Starostik P, Ademuyiwa F, Janarthanan B, Cheney RT
Mod Pathol 2011 Aug;24(8):1055-9. Epub 2011 Apr 15 doi: 10.1038/modpathol.2011.64. PMID: 21499233

Prognosis

Genomic profiling of gallbladder carcinoma: Targetable mutations and pathways involved.
Mishra S, Kumari S, Srivastava P, Pandey A, Shukla S, Husain N
Pathol Res Pract 2022 Apr;232:153806. Epub 2022 Feb 12 doi: 10.1016/j.prp.2022.153806. PMID: 35231860

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