Varaico: Literature-Extracted Genetic Variants

Gene:ERBB2
Variant:p.D769H
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ERBB2

NM_004448.4:p.D769H

Associated Papers

The role of zongertinib, a highly selective tyrosine kinase inhibitor, in targeting HER2-mutant NSCLC: a bench-to-bedside review.

Heymach JV et al.

Expert Review of Anticancer Therapy, 2026

Genomic Profile of Non-Small Cell Lung Cancer in a Spanish Cohort: A 2-Year Descriptive Study Using Next-Generation Sequencing.

Carnero-Gregorio M et al.

Genes, 2026

Integrating evidence from protein domains to identify cancer driver mutations.

Ostroverkhova D et al.

Protein Science : a Publication of the Protein Society, 2026

41556616 (PubMed )
Supplement: PRO-35-e70422-s002.xlsx › Table_S1

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

Giacoletto CJ et al.

New Biotechnology, 2025

Concurrent genomic assessment of circulating tumour cells and ctDNA to guide therapy in metastatic breast cancer.

Allsopp RC et al.

Bmc Cancer, 2025

41351070 (PubMed )
Supplement: 12885_2025_15187_MOESM1_ESM.zip › Supp_Table_1.xlsx › Sheet1

Enhanced computational strategies for categorizing HER2 kinase domain variants of uncertain significance through structural and functional analysis.

Loganathan T et al.

Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2025

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

Giacoletto CJ et al.

Genomics, 2025

Discriminating activating, deactivating and resistance variants in protein kinases.

Singh G et al.

Genome Medicine, 2025

41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S6

Discovery of Novel RASGRF2 Fusions as a Therapeutic Target in Lung Adenocarcinoma of Never or Light Smokers.

Terashima Y et al.

Cancer Science, 2025

40734624 (PubMed )
Supplement: CAS-116-2868-s002.xlsx › Table_S3

Phase II Study of Vismodegib in Patients With SMO- or PTCH1-Mutated Tumors: Results From the National Cancer Institute Molecular Analysis for Therapy Choice Eastern Cooperative Oncology Group-American College of Radiology Imaging Network Trial (EAY131) Subprotocol T.

Tsao AS et al.

Jco Precision Oncology, 2025

41066729 (PubMed )
Supplement: protocol1_PO-25-00119.pdf

Molecular Landscape, Genomic Shift, and Prediction in the Neoadjuvant Setting of Human Epidermal Growth Factor Receptor 2-Positive Breast Cancer.

Pons L et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2025

Mutational Landscape Assessed in Tumor Tissue and Circulating Tumor DNA During Treatment of Patients with HER2/ERBB2-Mutated Solid Tumors.

Egebjerg K et al.

Bmc Cancer, 2025

Genetic landscapes of breast tumors by next-generation sequencing with focus on less common types and genotype-phenotype correlations.

Hoda RS et al.

Human Pathology, 2025

Reannotation of cancer mutations based on expressed RNA transcripts reveals functional non-coding mutations in melanoma.

Pepe D et al.

American Journal of Human Genetics, 2025

40359938 (PubMed )
Supplement: mmc6.xlsx › Sheet_1

Revisiting variation in the somatic mutation landscape of non-small cell lung cancer.

Pathak V et al.

Hgg Advances, 2025

40007122 (PubMed )
Supplement: mmc1.xlsx › TableS1B.ActionableBiomarkers

Comparative analysis of RNA expression in a single institution cohort of pediatric cancer patients.

Vasquez YA et al.

Npj Precision Oncology, 2025

40119139 (PubMed )
Supplement: 41698_2025_852_MOESM11_ESM.xlsx › Supplementary_Data_9

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

Giacoletto CJ et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Advances in predicting breast cancer driver mutations: Tools for precision oncology (Review).

Hao W et al.

International Journal of Molecular Medicine, 2025

Computational molecular insights into ibrutinib as a potent inhibitor of HER2-L755S mutant in breast cancer: gene expression studies, virtual screening, docking, and molecular dynamics analysis.

Loganathan T et al.

Frontiers in Molecular Biosciences, 2025

Real-World Prevalence, Treatment Patterns, and Outcomes for Patients With HER2 (ERBB2)-Mutant Metastatic Non-Small Cell Lung Cancer, From a US-Based Clinico-Genomic Database.

Waliany S et al.

Cancer Medicine, 2024

Plasma-based analysis of ERBB2 mutational status by multiplex digital PCR in a large series of patients with metastatic breast cancer.

Corné J et al.

Molecular Oncology, 2024

The genomic and transcriptomic landscape of metastastic urothelial cancer.

Loriot Y et al.

Nature Communications, 2024

39366934 (PubMed )
Supplement: 41467_2024_52915_MOESM9_ESM.xlsx › SuppTable6_mMIBC-Somatic_alt

Molecular landscape of ERBB2 alterations in 3000 advanced NSCLC patients.

Hong L et al.

Npj Precision Oncology, 2024

HER2 mutations in advanced cervical neuroendocrine carcinoma: implications for trastuzumab deruxtecan therapy.

Chao WR et al.

Naunyn-schmiedeberg's Archives of Pharmacology, 2024

Oncogenic composite mutations can be predicted by co-mutations and their chromosomal location.

Küçükosmanoglu A et al.

Molecular Oncology, 2024

38757376 (PubMed )
Supplement: MOL2-18-2407-s001.xlsx › 1B_Cases_composite_mutations

ERBB2 mutations define a subgroup of endometrial carcinomas associated with high tumor mutational burden and the microsatellite instability-high (MSI-H) molecular subtype.

Brodeur MN et al.

Molecular Oncology, 2024

Novel ERBB2 Variant Potentially Associated with Resistance against Anti-HER2 Monoclonal Antibody-Based Therapy in ERBB2-Amplified Metastatic Colorectal Cancer.

Iida N et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024

39163021 (PubMed )
Supplement: ccr-24-1023_supplementary_data_1_suppds1.xlsx › Supplementary_Table1

HER2 mutation as an emerging target in advanced breast cancer.

Bon G et al.

Cancer Science, 2024

Phase II Trial of Afatinib in Patients With EGFR-Mutated Solid Tumors Excluding Lung Cancer: Results From NCI-MATCH ECOG-ACRIN Trial (EAY131) Subprotocol A.

Gettinger SN et al.

Jco Precision Oncology, 2024

38986051 (PubMed )
Supplement: protocol2_PO.23.00725.pdf

Trastuzumab deruxtecan in patients with solid tumours harbouring specific activating HER2 mutations (DESTINY-PanTumor01): an international, phase 2 study.

Li BT et al.

The Lancet. Oncology, 2024

Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.

Wei J et al.

Plos Biology, 2024

38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar

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

Targeting HER2-mutant metastatic cervical cancer with neratinib: Final results from the phase 2 SUMMIT basket trial.

Friedman CF et al.

Gynecologic Oncology, 2024

Negative Hyperselection of Patients with HER2+ and RAS Wild-Type Metastatic Colorectal Cancer Receiving Dual HER2 Blockade: the PRESSING-HER2 Study.

Randon G et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024

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

Acquired Secondary HER2 Mutations Enhance HER2/MAPK Signaling and Promote Resistance to HER2 Kinase Inhibition in Breast Cancer.

Marín A et al.

Cancer Research, 2023

Standing in the canine precision medicine knowledge gap: Improving annotation of canine cancer genomic biomarkers through systematic comparative analysis of human cancer mutations in COSMIC.

Sakthikumar S et al.

Veterinary and Comparative Oncology, 2023

37248814 (PubMed )
Supplement: supplement_1.xlsx › Supp._Table_5

EGFR exon 20 insertion mutations and ERBB2 mutations in lung cancer: a narrative review on approved targeted therapies from oral kinase inhibitors to antibody-drug conjugates.

Sentana-Lledo D et al.

Translational Lung Cancer Research, 2023

Dramatic Response to Pyrotinib and T-DM1 in HER2-Negative Metastatic Breast Cancer With 2 Activating HER2 Mutations.

Tian H et al.

The Oncologist, 2023

A review of HER2 overexpression and somatic mutations in cancers.

Galogre M et al.

Critical Reviews in Oncology/hematology, 2023

Computational and Functional Analyses of HER2 Mutations Reveal Allosteric Activation Mechanisms and Altered Pharmacologic Effects.

Ishiyama N et al.

Cancer Research, 2023

35503682 (PubMed )
Supplement: can-21-0940_supplementary_data_suppsd.docx

Validation and Clinical Application of ONCOaccuPanel for Targeted Next-Generation Sequencing of Solid Tumors.

Kim M et al.

Cancer Research and Treatment, 2023

ProTarget: a Danish Nationwide Clinical Trial on Targeted Cancer Treatment based on genomic profiling - a national, phase 2, prospective, multi-drug, non-randomized, open-label basket trial.

Kringelbach T et al.

Bmc Cancer, 2023

The predictive role of ERBB2 point mutations in metastatic colorectal cancer: A systematic review.

Vaghi C et al.

Cancer Treatment Reviews, 2023

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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."