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ERBB2 NM_004448.1:c.2413T>A

MedGen UID:
1740880
•Concept ID:
C5419232
•
Cell or Molecular Dysfunction
Synonyms: ERBB2 c.2413T>A; HER-2 c.2413T>A; HER-2/neu c.2413T>A; HER2 c.2413T>A; NEU c.2413T>A; NM_004448.1:c.2413T>A; v-erb-b2 Erythroblastic Leukemia Viral Oncogene Homolog 2, Neuro/Glioblastoma Derived Oncogene Homolog (Avian) c.2413T>A

Definition

A nucleotide substitution at position 2413 of the coding sequence of the ERBB2 gene where thymine has been mutated to adenine. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVERBB2 NM_004448.1:c.2413T>A

Professional guidelines

PubMed

Antibody-Drug Conjugate Targeting c-Kit for the Treatment of Small Cell Lung Cancer.
Kim KH, Kim JO, Park JY, Seo MD, Park SG
Int J Mol Sci 2022 Feb 18;23(4) doi: 10.3390/ijms23042264. PMID: 35216379Free PMC Article
Antibody-drug nanoparticle induces synergistic treatment efficacies in HER2 positive breast cancer cells.
Abedin MR, Powers K, Aiardo R, Barua D, Barua S
Sci Rep 2021 Apr 1;11(1):7347. doi: 10.1038/s41598-021-86762-6. PMID: 33795712Free PMC Article
Nab-paclitaxel-based regimens with docetaxel-based regimens as neoadjuvant treatment for early breast cancer.
Chen Y, Bao B, Lv Y, Sun D, Zhang L, Wang J, Zhao W
Invest New Drugs 2021 Apr;39(2):524-529. Epub 2020 Nov 2 doi: 10.1007/s10637-020-01029-7. PMID: 33140143

Recent clinical studies

Etiology

Durvalumab with olaparib and paclitaxel for high-risk HER2-negative stage II/III breast cancer: Results from the adaptively randomized I-SPY2 trial.
Pusztai L, Yau C, Wolf DM, Han HS, Du L, Wallace AM, String-Reasor E, Boughey JC, Chien AJ, Elias AD, Beckwith H, Nanda R, Albain KS, Clark AS, Kemmer K, Kalinsky K, Isaacs C, Thomas A, Shatsky R, Helsten TL, Forero-Torres A, Liu MC, Brown-Swigart L, Petricoin EF, Wulfkuhle JD, Asare SM, Wilson A, Singhrao R, Sit L, Hirst GL, Berry S, Sanil A, Asare AL, Matthews JB, Perlmutter J, Melisko M, Rugo HS, Schwab RB, Symmans WF, Yee D, Van't Veer LJ, Hylton NM, DeMichele AM, Berry DA, Esserman LJ
Cancer Cell 2021 Jul 12;39(7):989-998.e5. Epub 2021 Jun 17 doi: 10.1016/j.ccell.2021.05.009. PMID: 34143979Free PMC Article
Olaparib for Metastatic Breast Cancer in Patients with a Germline BRCA Mutation.
Robson M, Im SA, Senkus E, Xu B, Domchek SM, Masuda N, Delaloge S, Li W, Tung N, Armstrong A, Wu W, Goessl C, Runswick S, Conte P
N Engl J Med 2017 Aug 10;377(6):523-533. Epub 2017 Jun 4 doi: 10.1056/NEJMoa1706450. PMID: 28578601
Adjuvant Capecitabine for Breast Cancer after Preoperative Chemotherapy.
Masuda N, Lee SJ, Ohtani S, Im YH, Lee ES, Yokota I, Kuroi K, Im SA, Park BW, Kim SB, Yanagita Y, Ohno S, Takao S, Aogi K, Iwata H, Jeong J, Kim A, Park KH, Sasano H, Ohashi Y, Toi M
N Engl J Med 2017 Jun 1;376(22):2147-2159. doi: 10.1056/NEJMoa1612645. PMID: 28564564
Ribociclib as First-Line Therapy for HR-Positive, Advanced Breast Cancer.
Hortobagyi GN, Stemmer SM, Burris HA, Yap YS, Sonke GS, Paluch-Shimon S, Campone M, Blackwell KL, André F, Winer EP, Janni W, Verma S, Conte P, Arteaga CL, Cameron DA, Petrakova K, Hart LL, Villanueva C, Chan A, Jakobsen E, Nusch A, Burdaeva O, Grischke EM, Alba E, Wist E, Marschner N, Favret AM, Yardley D, Bachelot T, Tseng LM, Blau S, Xuan F, Souami F, Miller M, Germa C, Hirawat S, O'Shaughnessy J
N Engl J Med 2016 Nov 3;375(18):1738-1748. Epub 2016 Oct 7 doi: 10.1056/NEJMoa1609709. PMID: 27717303
Fulvestrant plus palbociclib versus fulvestrant plus placebo for treatment of hormone-receptor-positive, HER2-negative metastatic breast cancer that progressed on previous endocrine therapy (PALOMA-3): final analysis of the multicentre, double-blind, phase 3 randomised controlled trial.
Cristofanilli M, Turner NC, Bondarenko I, Ro J, Im SA, Masuda N, Colleoni M, DeMichele A, Loi S, Verma S, Iwata H, Harbeck N, Zhang K, Theall KP, Jiang Y, Bartlett CH, Koehler M, Slamon D
Lancet Oncol 2016 Apr;17(4):425-439. Epub 2016 Mar 3 doi: 10.1016/S1470-2045(15)00613-0. PMID: 26947331

Diagnosis

Novel HER2-Targeted Peptide for NIR-II Imaging of Tumor.
Cao R, Li R, Shi H, Liu H, Cheng Z
Mol Pharm 2023 Feb 6;20(2):1394-1403. Epub 2023 Jan 20 doi: 10.1021/acs.molpharmaceut.2c00964. PMID: 36668683
Durvalumab with olaparib and paclitaxel for high-risk HER2-negative stage II/III breast cancer: Results from the adaptively randomized I-SPY2 trial.
Pusztai L, Yau C, Wolf DM, Han HS, Du L, Wallace AM, String-Reasor E, Boughey JC, Chien AJ, Elias AD, Beckwith H, Nanda R, Albain KS, Clark AS, Kemmer K, Kalinsky K, Isaacs C, Thomas A, Shatsky R, Helsten TL, Forero-Torres A, Liu MC, Brown-Swigart L, Petricoin EF, Wulfkuhle JD, Asare SM, Wilson A, Singhrao R, Sit L, Hirst GL, Berry S, Sanil A, Asare AL, Matthews JB, Perlmutter J, Melisko M, Rugo HS, Schwab RB, Symmans WF, Yee D, Van't Veer LJ, Hylton NM, DeMichele AM, Berry DA, Esserman LJ
Cancer Cell 2021 Jul 12;39(7):989-998.e5. Epub 2021 Jun 17 doi: 10.1016/j.ccell.2021.05.009. PMID: 34143979Free PMC Article
Chemotherapy de-escalation using an (18)F-FDG-PET-based pathological response-adapted strategy in patients with HER2-positive early breast cancer (PHERGain): a multicentre, randomised, open-label, non-comparative, phase 2 trial.
Pérez-García JM, Gebhart G, Ruiz Borrego M, Stradella A, Bermejo B, Schmid P, Marmé F, Escrivá-de-Romani S, Calvo L, Ribelles N, Martinez N, Albacar C, Prat A, Dalenc F, Kerrou K, Colleoni M, Afonso N, Di Cosimo S, Sampayo-Cordero M, Malfettone A, Cortés J, Llombart-Cussac A; PHERGain steering committee and trial investigators
Lancet Oncol 2021 Jun;22(6):858-871. Epub 2021 May 18 doi: 10.1016/S1470-2045(21)00122-4. PMID: 34019819
Fulvestrant plus palbociclib versus fulvestrant plus placebo for treatment of hormone-receptor-positive, HER2-negative metastatic breast cancer that progressed on previous endocrine therapy (PALOMA-3): final analysis of the multicentre, double-blind, phase 3 randomised controlled trial.
Cristofanilli M, Turner NC, Bondarenko I, Ro J, Im SA, Masuda N, Colleoni M, DeMichele A, Loi S, Verma S, Iwata H, Harbeck N, Zhang K, Theall KP, Jiang Y, Bartlett CH, Koehler M, Slamon D
Lancet Oncol 2016 Apr;17(4):425-439. Epub 2016 Mar 3 doi: 10.1016/S1470-2045(15)00613-0. PMID: 26947331
Phase I Study of 68Ga-HER2-Nanobody for PET/CT Assessment of HER2 Expression in Breast Carcinoma.
Keyaerts M, Xavier C, Heemskerk J, Devoogdt N, Everaert H, Ackaert C, Vanhoeij M, Duhoux FP, Gevaert T, Simon P, Schallier D, Fontaine C, Vaneycken I, Vanhove C, De Greve J, Lamote J, Caveliers V, Lahoutte T
J Nucl Med 2016 Jan;57(1):27-33. Epub 2015 Oct 8 doi: 10.2967/jnumed.115.162024. PMID: 26449837

Therapy

Ribociclib plus Endocrine Therapy in Early Breast Cancer.
Slamon D, Lipatov O, Nowecki Z, McAndrew N, Kukielka-Budny B, Stroyakovskiy D, Yardley DA, Huang CS, Fasching PA, Crown J, Bardia A, Chia S, Im SA, Ruiz-Borrego M, Loi S, Xu B, Hurvitz S, Barrios C, Untch M, Moroose R, Visco F, Afenjar K, Fresco R, Severin I, Ji Y, Ghaznawi F, Li Z, Zarate JP, Chakravartty A, Taran T, Hortobagyi G
N Engl J Med 2024 Mar 21;390(12):1080-1091. doi: 10.1056/NEJMoa2305488. PMID: 38507751
Olaparib for Metastatic Breast Cancer in Patients with a Germline BRCA Mutation.
Robson M, Im SA, Senkus E, Xu B, Domchek SM, Masuda N, Delaloge S, Li W, Tung N, Armstrong A, Wu W, Goessl C, Runswick S, Conte P
N Engl J Med 2017 Aug 10;377(6):523-533. Epub 2017 Jun 4 doi: 10.1056/NEJMoa1706450. PMID: 28578601
Adjuvant Capecitabine for Breast Cancer after Preoperative Chemotherapy.
Masuda N, Lee SJ, Ohtani S, Im YH, Lee ES, Yokota I, Kuroi K, Im SA, Park BW, Kim SB, Yanagita Y, Ohno S, Takao S, Aogi K, Iwata H, Jeong J, Kim A, Park KH, Sasano H, Ohashi Y, Toi M
N Engl J Med 2017 Jun 1;376(22):2147-2159. doi: 10.1056/NEJMoa1612645. PMID: 28564564
Ribociclib as First-Line Therapy for HR-Positive, Advanced Breast Cancer.
Hortobagyi GN, Stemmer SM, Burris HA, Yap YS, Sonke GS, Paluch-Shimon S, Campone M, Blackwell KL, André F, Winer EP, Janni W, Verma S, Conte P, Arteaga CL, Cameron DA, Petrakova K, Hart LL, Villanueva C, Chan A, Jakobsen E, Nusch A, Burdaeva O, Grischke EM, Alba E, Wist E, Marschner N, Favret AM, Yardley D, Bachelot T, Tseng LM, Blau S, Xuan F, Souami F, Miller M, Germa C, Hirawat S, O'Shaughnessy J
N Engl J Med 2016 Nov 3;375(18):1738-1748. Epub 2016 Oct 7 doi: 10.1056/NEJMoa1609709. PMID: 27717303
Fulvestrant plus palbociclib versus fulvestrant plus placebo for treatment of hormone-receptor-positive, HER2-negative metastatic breast cancer that progressed on previous endocrine therapy (PALOMA-3): final analysis of the multicentre, double-blind, phase 3 randomised controlled trial.
Cristofanilli M, Turner NC, Bondarenko I, Ro J, Im SA, Masuda N, Colleoni M, DeMichele A, Loi S, Verma S, Iwata H, Harbeck N, Zhang K, Theall KP, Jiang Y, Bartlett CH, Koehler M, Slamon D
Lancet Oncol 2016 Apr;17(4):425-439. Epub 2016 Mar 3 doi: 10.1016/S1470-2045(15)00613-0. PMID: 26947331

Prognosis

Human Epidermal Growth Factor Receptor 2-Targeting [(68)Ga]Ga-ABY-025 PET/CT Predicts Early Metabolic Response in Metastatic Breast Cancer.
Alhuseinalkhudhur A, Lindman H, Liss P, Sundin T, Frejd FY, Hartman J, Iyer V, Feldwisch J, Lubberink M, Rönnlund C, Tolmachev V, Velikyan I, Sörensen J
J Nucl Med 2023 Sep;64(9):1364-1370. Epub 2023 Jul 13 doi: 10.2967/jnumed.122.265364. PMID: 37442602Free PMC Article
Durvalumab with olaparib and paclitaxel for high-risk HER2-negative stage II/III breast cancer: Results from the adaptively randomized I-SPY2 trial.
Pusztai L, Yau C, Wolf DM, Han HS, Du L, Wallace AM, String-Reasor E, Boughey JC, Chien AJ, Elias AD, Beckwith H, Nanda R, Albain KS, Clark AS, Kemmer K, Kalinsky K, Isaacs C, Thomas A, Shatsky R, Helsten TL, Forero-Torres A, Liu MC, Brown-Swigart L, Petricoin EF, Wulfkuhle JD, Asare SM, Wilson A, Singhrao R, Sit L, Hirst GL, Berry S, Sanil A, Asare AL, Matthews JB, Perlmutter J, Melisko M, Rugo HS, Schwab RB, Symmans WF, Yee D, Van't Veer LJ, Hylton NM, DeMichele AM, Berry DA, Esserman LJ
Cancer Cell 2021 Jul 12;39(7):989-998.e5. Epub 2021 Jun 17 doi: 10.1016/j.ccell.2021.05.009. PMID: 34143979Free PMC Article
Atezolizumab plus nab-paclitaxel as first-line treatment for unresectable, locally advanced or metastatic triple-negative breast cancer (IMpassion130): updated efficacy results from a randomised, double-blind, placebo-controlled, phase 3 trial.
Schmid P, Rugo HS, Adams S, Schneeweiss A, Barrios CH, Iwata H, Diéras V, Henschel V, Molinero L, Chui SY, Maiya V, Husain A, Winer EP, Loi S, Emens LA; IMpassion130 Investigators
Lancet Oncol 2020 Jan;21(1):44-59. Epub 2019 Nov 27 doi: 10.1016/S1470-2045(19)30689-8. PMID: 31786121
Adjuvant Capecitabine for Breast Cancer after Preoperative Chemotherapy.
Masuda N, Lee SJ, Ohtani S, Im YH, Lee ES, Yokota I, Kuroi K, Im SA, Park BW, Kim SB, Yanagita Y, Ohno S, Takao S, Aogi K, Iwata H, Jeong J, Kim A, Park KH, Sasano H, Ohashi Y, Toi M
N Engl J Med 2017 Jun 1;376(22):2147-2159. doi: 10.1056/NEJMoa1612645. PMID: 28564564
Phase I Study of 68Ga-HER2-Nanobody for PET/CT Assessment of HER2 Expression in Breast Carcinoma.
Keyaerts M, Xavier C, Heemskerk J, Devoogdt N, Everaert H, Ackaert C, Vanhoeij M, Duhoux FP, Gevaert T, Simon P, Schallier D, Fontaine C, Vaneycken I, Vanhove C, De Greve J, Lamote J, Caveliers V, Lahoutte T
J Nucl Med 2016 Jan;57(1):27-33. Epub 2015 Oct 8 doi: 10.2967/jnumed.115.162024. PMID: 26449837

Clinical prediction guides

Human Epidermal Growth Factor Receptor 2-Targeting [(68)Ga]Ga-ABY-025 PET/CT Predicts Early Metabolic Response in Metastatic Breast Cancer.
Alhuseinalkhudhur A, Lindman H, Liss P, Sundin T, Frejd FY, Hartman J, Iyer V, Feldwisch J, Lubberink M, Rönnlund C, Tolmachev V, Velikyan I, Sörensen J
J Nucl Med 2023 Sep;64(9):1364-1370. Epub 2023 Jul 13 doi: 10.2967/jnumed.122.265364. PMID: 37442602Free PMC Article
Novel HER2-Targeted Peptide for NIR-II Imaging of Tumor.
Cao R, Li R, Shi H, Liu H, Cheng Z
Mol Pharm 2023 Feb 6;20(2):1394-1403. Epub 2023 Jan 20 doi: 10.1021/acs.molpharmaceut.2c00964. PMID: 36668683
A randomised phase II study investigating durvalumab in addition to an anthracycline taxane-based neoadjuvant therapy in early triple-negative breast cancer: clinical results and biomarker analysis of GeparNuevo study.
Loibl S, Untch M, Burchardi N, Huober J, Sinn BV, Blohmer JU, Grischke EM, Furlanetto J, Tesch H, Hanusch C, Engels K, Rezai M, Jackisch C, Schmitt WD, von Minckwitz G, Thomalla J, Kümmel S, Rautenberg B, Fasching PA, Weber K, Rhiem K, Denkert C, Schneeweiss A
Ann Oncol 2019 Aug 1;30(8):1279-1288. doi: 10.1093/annonc/mdz158. PMID: 31095287
Phase I Study of 68Ga-HER2-Nanobody for PET/CT Assessment of HER2 Expression in Breast Carcinoma.
Keyaerts M, Xavier C, Heemskerk J, Devoogdt N, Everaert H, Ackaert C, Vanhoeij M, Duhoux FP, Gevaert T, Simon P, Schallier D, Fontaine C, Vaneycken I, Vanhove C, De Greve J, Lamote J, Caveliers V, Lahoutte T
J Nucl Med 2016 Jan;57(1):27-33. Epub 2015 Oct 8 doi: 10.2967/jnumed.115.162024. PMID: 26449837
The neonatal Fc receptor (FcRn) binds independently to both sites of the IgG homodimer with identical affinity.
Abdiche YN, Yeung YA, Chaparro-Riggers J, Barman I, Strop P, Chin SM, Pham A, Bolton G, McDonough D, Lindquist K, Pons J, Rajpal A
MAbs 2015;7(2):331-43. doi: 10.1080/19420862.2015.1008353. PMID: 25658443Free PMC Article

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