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ERBB2 Protein Variant

MedGen UID:: 475638
•Concept ID:: C3274005
•: Cell or Molecular Dysfunction

Synonyms:

Proto-Oncogene Neu Protein Variant; Receptor Tyrosine-Protein Kinase erbB-2 Protein Variant; Tyrosine Kinase-Type Cell Surface Receptor HER2 Protein Variant

Definition

A variation in the amino acid sequence for the receptor tyrosine-protein kinase erbB-2 protein. [from NCI]

Professional guidelines

PubMed

Incorporating traditional and emerging biomarkers in the clinical management of metastatic colorectal cancer: an update.

Baraibar I, Ros J, Mulet N, Salvà F, Argilés G, Martini G, Cuadra JL, Sardo E, Ciardiello D, Tabernero J, Élez E
Expert Rev Mol Diagn 2020 Jul;20(7):653-664. Epub 2020 Jun 22 doi: 10.1080/14737159.2020.1782194. PMID: 32552041

Association of Germline Genetic Testing Results With Locoregional and Systemic Therapy in Patients With Breast Cancer.

Kurian AW, Ward KC, Abrahamse P, Hamilton AS, Deapen D, Morrow M, Jagsi R, Katz SJ
JAMA Oncol 2020 Apr 1;6(4):e196400. Epub 2020 Apr 9 doi: 10.1001/jamaoncol.2019.6400. PMID: 32027353 Free PMC Article

Genomic classification of lung cancer: toward a personalized treatment.

Mlika M, Laabidi S, Afrit M, Boussen H, El Mezni F
Tunis Med 2015 Jun;93(6):339-44. PMID: 26644092

See all (25)

Recent clinical studies

Etiology

Autophagy in the physiological endometrium and cancer.

Devis-Jauregui L, Eritja N, Davis ML, Matias-Guiu X, Llobet-Navàs D
Autophagy 2021 May;17(5):1077-1095. Epub 2020 May 13 doi: 10.1080/15548627.2020.1752548. PMID: 32401642 Free PMC Article

Randomized Phase II Trial of Carboplatin-Paclitaxel Compared with Carboplatin-Paclitaxel-Trastuzumab in Advanced (Stage III-IV) or Recurrent Uterine Serous Carcinomas that Overexpress Her2/Neu (NCT01367002): Updated Overall Survival Analysis.

Fader AN, Roque DM, Siegel E, Buza N, Hui P, Abdelghany O, Chambers S, Secord AA, Havrilesky L, O'Malley DM, Backes FJ, Nevadunsky N, Edraki B, Pikaart D, Lowery W, ElSahwi K, Celano P, Bellone S, Azodi M, Litkouhi B, Ratner E, Silasi DA, Schwartz PE, Santin AD
Clin Cancer Res 2020 Aug 1;26(15):3928-3935. Epub 2020 Jun 29 doi: 10.1158/1078-0432.CCR-20-0953. PMID: 32601075 Free 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

Targeting HER2 in colorectal cancer: The landscape of amplification and short variant mutations in ERBB2 and ERBB3.

Ross JS, Fakih M, Ali SM, Elvin JA, Schrock AB, Suh J, Vergilio JA, Ramkissoon S, Severson E, Daniel S, Fabrizio D, Frampton G, Sun J, Miller VA, Stephens PJ, Gay LM
Cancer 2018 Apr 1;124(7):1358-1373. Epub 2018 Jan 16 doi: 10.1002/cncr.31125. PMID: 29338072 Free PMC Article

Immunology Update: Biologics.

Starr SP
FP Essent 2016 Nov;450:11-21. PMID: 27869438

See all (201)

Diagnosis

KRAS G12C-Mutant Non-Small Cell Lung Cancer: Biology, Developmental Therapeutics, and Molecular Testing.

Veluswamy R, Mack PC, Houldsworth J, Elkhouly E, Hirsch FR
J Mol Diagn 2021 May;23(5):507-520. Epub 2021 Feb 20 doi: 10.1016/j.jmoldx.2021.02.002. PMID: 33618059

High-Throughput Functional Evaluation of Variants of Unknown Significance in ERBB2.

Nagano M, Kohsaka S, Ueno T, Kojima S, Saka K, Iwase H, Kawazu M, Mano H
Clin Cancer Res 2018 Oct 15;24(20):5112-5122. Epub 2018 Jul 2 doi: 10.1158/1078-0432.CCR-18-0991. PMID: 29967253

Targeting HER2 in colorectal cancer: The landscape of amplification and short variant mutations in ERBB2 and ERBB3.

RNA-Seq of Tumor-Educated Platelets Enables Blood-Based Pan-Cancer, Multiclass, and Molecular Pathway Cancer Diagnostics.

Best MG, Sol N, Kooi I, Tannous J, Westerman BA, Rustenburg F, Schellen P, Verschueren H, Post E, Koster J, Ylstra B, Ameziane N, Dorsman J, Smit EF, Verheul HM, Noske DP, Reijneveld JC, Nilsson RJA, Tannous BA, Wesseling P, Wurdinger T
Cancer Cell 2015 Nov 9;28(5):666-676. Epub 2015 Oct 29 doi: 10.1016/j.ccell.2015.09.018. PMID: 26525104 Free PMC Article

See all (227)

Therapy

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

Comprehensive Molecular Profiling of Intrahepatic and Extrahepatic Cholangiocarcinomas: Potential Targets for Intervention.

Lowery MA, Ptashkin R, Jordan E, Berger MF, Zehir A, Capanu M, Kemeny NE, O'Reilly EM, El-Dika I, Jarnagin WR, Harding JJ, D'Angelica MI, Cercek A, Hechtman JF, Solit DB, Schultz N, Hyman DM, Klimstra DS, Saltz LB, Abou-Alfa GK
Clin Cancer Res 2018 Sep 1;24(17):4154-4161. Epub 2018 May 30 doi: 10.1158/1078-0432.CCR-18-0078. PMID: 29848569 Free PMC Article

Randomized Phase II Trial of Carboplatin-Paclitaxel Versus Carboplatin-Paclitaxel-Trastuzumab in Uterine Serous Carcinomas That Overexpress Human Epidermal Growth Factor Receptor 2/neu.

Fader AN, Roque DM, Siegel E, Buza N, Hui P, Abdelghany O, Chambers SK, Secord AA, Havrilesky L, O'Malley DM, Backes F, Nevadunsky N, Edraki B, Pikaart D, Lowery W, ElSahwi KS, Celano P, Bellone S, Azodi M, Litkouhi B, Ratner E, Silasi DA, Schwartz PE, Santin AD
J Clin Oncol 2018 Jul 10;36(20):2044-2051. Epub 2018 Mar 27 doi: 10.1200/JCO.2017.76.5966. PMID: 29584549

The ErbB/HER family of protein-tyrosine kinases and cancer.

Roskoski R Jr
Pharmacol Res 2014 Jan;79:34-74. Epub 2013 Nov 20 doi: 10.1016/j.phrs.2013.11.002. PMID: 24269963

See all (193)

Prognosis

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: 31553708 Free PMC Article

High-Throughput Functional Evaluation of Variants of Unknown Significance in ERBB2.

Nagano M, Kohsaka S, Ueno T, Kojima S, Saka K, Iwase H, Kawazu M, Mano H
Clin Cancer Res 2018 Oct 15;24(20):5112-5122. Epub 2018 Jul 2 doi: 10.1158/1078-0432.CCR-18-0991. PMID: 29967253

Comprehensive Molecular Profiling of Intrahepatic and Extrahepatic Cholangiocarcinomas: Potential Targets for Intervention.

Targeting HER2 in colorectal cancer: The landscape of amplification and short variant mutations in ERBB2 and ERBB3.

See all (264)

Clinical prediction guides

NRG1 fusions in breast cancer.

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: 33413557 Free PMC Article

KRAS, NRAS, BRAF, HER2 and microsatellite instability in metastatic colorectal cancer - practical implications for the clinician.

High-Throughput Functional Evaluation of Variants of Unknown Significance in ERBB2.

Nagano M, Kohsaka S, Ueno T, Kojima S, Saka K, Iwase H, Kawazu M, Mano H
Clin Cancer Res 2018 Oct 15;24(20):5112-5122. Epub 2018 Jul 2 doi: 10.1158/1078-0432.CCR-18-0991. PMID: 29967253

Comprehensive Molecular Profiling of Intrahepatic and Extrahepatic Cholangiocarcinomas: Potential Targets for Intervention.

Targeting HER2 in colorectal cancer: The landscape of amplification and short variant mutations in ERBB2 and ERBB3.

See all (273)