Varaico: Literature-Extracted Genetic Variants

Gene:ERBB2
Variant:p.H878Y
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ERBB2

NM_004448.4:p.H878Y

Associated Papers

Exome Sequencing Identifies Variants in MLH1 and ERBB2 as Potential Cancer-Predisposing Factors in Familial Early-Onset Colorectal Cancer.

Bagheri B et al.

The Kaohsiung Journal of Medical Sciences, 2026

The GigaAssay: A combined high throughput and highly accurate platform for variant classification.

Giacoletto CJ et al.

New Biotechnology, 2025

High-throughput characterization of 5886 HER2 variants identifies 112 new in cellulo gain-of-function mutations.

Giacoletto CJ et al.

Genomics, 2025

Genomic landscape of endometrial polyps.

Reinikka S et al.

Genome Medicine, 2025

41137179 (PubMed )
Supplement: 13073_2025_1556_MOESM1_ESM.xlsx › S1

Molecular characterization of colorectal cancer (CRC) using next generation sequencing (NGS) in bridging the gap between research and clinical practice: from biomarker discovery to clinical implementation.

Afolabi HA et al.

Discover Oncology, 2025

New Gain-of-Function Mutations Prioritize Mechanisms of HER2 Activation.

Giacoletto CJ et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Trastuzumab deruxtecan for the treatment of metastatic non-small cell lung cancer harboring HER2 non-exon 19/20 mutations: four case reports.

Meng Y et al.

Frontiers in Immunology, 2025

Somatic mutations in 3929 HPV positive cervical cells associated with infection outcome and HPV type.

Pinheiro M et al.

Nature Communications, 2024

39266536 (PubMed )
Supplement: 41467_2024_51713_MOESM5_ESM.xlsx › Data_2

Targeted next-generation sequencing of 491 lung cancers in clinical practice: Implications for future detection strategy and targeted therapy.

Liu XD et al.

Heliyon, 2024

38496837 (PubMed )
Supplement: mmc1.xlsx › Sheet1

CHB patients with rtA181T-mutated HBV infection are associated with higher risk hepatocellular carcinoma due to increases in mutation rates of tumour suppressor genes.

Ning Q et al.

Journal of Viral Hepatitis, 2023

37735836 (PubMed )
Supplement: supplement_1.doc

Clinical characteristics and treatment outcomes of HER2 mutation and HER2 fusion in 22 patients with advanced breast cancer.

Mu Y et al.

Thoracic Cancer, 2023

Neratinib + fulvestrant + trastuzumab for HR-positive, HER2-negative, HER2-mutant metastatic breast cancer: outcomes and biomarker analysis from the SUMMIT trial.

Jhaveri K et al.

Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2023

Antitumour activity of neratinib in patients with HER2-mutant advanced biliary tract cancers.

Harding JJ et al.

Nature Communications, 2023

36746967 (PubMed )
Supplement: 41467_2023_36399_MOESM1_ESM.pdf

ERBB family fusions are recurrent and actionable oncogenic targets across cancer types.

Schubert L et al.

Frontiers in Oncology, 2023

37168365 (PubMed )
Supplement: Table_3.xlsx › ERBB2_mutations

Diverse Molecular Mechanisms Underlying Pathogenic Protein Mutations: Beyond the Loss-of-Function Paradigm.

Backwell L et al.

Annual Review of Genomics and Human Genetics, 2022

Poziotinib Inhibits HER2-Mutant-Driven Therapeutic Resistance and Multiorgan Metastasis in Breast Cancer.

Kalra R et al.

Cancer Research, 2022

35736563 (PubMed )
Supplement: can-21-3106_supplementary_data_suppst1.xlsx › MSK-IMPACT

Molecular Landscape of ERBB2 Alterations in 14,956 Solid Tumors.

Wang H et al.

Pathology Oncology Research : Por, 2022

Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Asselta R et al.

Thoracic Cancer, 2021

33704917 (PubMed )
Supplement: TCA-12-1271-s003.xls › Foglio1

Genetic aberrations in Chinese pancreatic cancer patients and their association with anatomic location and disease outcomes.

Lu J et al.

Cancer Medicine, 2021

Efficacy and Resistance of Afatinib in Chinese Non-Small Cell Lung Cancer Patients With HER2 Alterations: A Multicenter Retrospective Study.

Song Z et al.

Frontiers in Oncology, 2021

A step towards personalizing next line therapy for resected pancreatic and related cancer patients: A single institution's experience.

Lowder CY et al.

Surgical Oncology, 2020

Emergence of ERBB2 Mutation as a Biomarker and an Actionable Target in Solid Cancers.

Subramanian J et al.

The Oncologist, 2019

Development and validation of a targeted gene sequencing panel for application to disparate cancers.

McCabe MJ et al.

Scientific Reports, 2019

31745186 (PubMed )
Supplement: 41598_2019_52000_MOESM2_ESM.xlsx › Sheet1

Finding driver mutations in cancer: Elucidating the role of background mutational processes.

Brown AL et al.

Plos Computational Biology, 2019

31034466 (PubMed )
Supplement: pcbi.1006981.s010.xlsx › final_benchmark

Targeted mutation detection in breast cancer using MammaSeq™.

Smith NG et al.

Breast Cancer Research : Bcr, 2019

30736836 (PubMed )
Supplement: 13058_2019_1102_MOESM2_ESM.xlsx › Sheet1

Validation of the Oncomine™ focus panel for next-generation sequencing of clinical tumour samples.

Williams HL et al.

Virchows Archiv : an International Journal of Pathology, 2018

30105577 (PubMed )
Supplement: 428_2018_2411_MOESM1_ESM.xlsx › REF4

Fibroblast growth factor receptor 3 (FGFR3) aberrations in muscle-invasive urothelial carcinoma.

Kim YS et al.

Bmc Urology, 2018

30064409 (PubMed )
Supplement: 12894_2018_380_MOESM1_ESM.xlsx › Supplementary_Table_1

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

Ross JS et al.

Cancer, 2018

Molecular Characterization of Urothelial Carcinoma of the Bladder and Upper Urinary Tract.

Lee JY et al.

Translational Oncology, 2018

29161613 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1

Frequency, impact and a preclinical study of novel ERBB gene family mutations in HER2-positive breast cancer.

Elster N et al.

Therapeutic Advances in Medical Oncology, 2018

Integrated Exploitation of the Structural Diversity Space of Chemotherapy Drugs to Selectively Inhibit HER2 T798M Mutant in Lung Cancer.

Wang YW et al.

Chemistry & Biodiversity, 2017

Activating HER2 mutations as emerging targets in multiple solid cancers.

Connell CM et al.

Esmo Open, 2017

Clinical significance of frequent somatic mutations detected by high-throughput targeted sequencing in archived colorectal cancer samples.

Dallol A et al.

Journal of Translational Medicine, 2016

Mutational profiling of brain metastasis from breast cancer: matched pair analysis of targeted sequencing between brain metastasis and primary breast cancer.

Lee JY et al.

Oncotarget, 2015

26527317 (PubMed )
Supplement: oncotarget-06-43731-s002.xlsx › Table_S1

Tumor driven by gain-of-function HER2 H878Y mutant is highly sensitive to HER2 inhibitor.

Hu Z et al.

Oncotarget, 2015

Molecular characterization of patients with pathologic complete response or early failure after neoadjuvant chemotherapy for locally advanced breast cancer using next generation sequencing and nCounter assay.

Park K et al.

Oncotarget, 2015

26009992 (PubMed )
Supplement: oncotarget-06-24499-s002.xlsx › Supplementary_Table_1

Phosphorylation of mutationally introduced tyrosine in the activation loop of HER2 confers gain-of-function activity.

Hu Z et al.

Plos One, 2015

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."