Varaico: Literature-Extracted Genetic Variants

Gene:ERBB2
Variant:p.R678Q
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ERBB2

NM_004448.4:p.R678Q

Associated Papers

Identification of the Carcinogenic Process from Lobular Endocervical Glandular Hyperplasia to Gastric-Type Adenocarcinoma of the Uterine Cervix via Whole-Exome Sequencing.

Kuruma A et al.

Cancers, 2026

41749904 (PubMed )
Supplement: cancers-18-00651-s001.zip › Supplementary_Table_S4.xlsx › Supple_Table_4

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

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

HER2 alterations across solid tumors: implications for comprehensive testing.

Ismail A et al.

The Oncologist, 2025

HER2 mutation profiling in mucinous ovarian carcinoma: Inferences for Enhertu (trastuzumab deruxtecan) as a potential therapeutic approach.

Shen HP et al.

Taiwanese Journal of Obstetrics & Gynecology, 2025

Genomic Analyses Reveal the Evolving Characteristics of Intestinal Metaplasia and Gastric Cancer.

Xu X et al.

Cancer Research, 2025

MutationAssessor in cBioPortal.

Su Y et al.

Biorxiv : the Preprint Server for Biology, 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

A neomorphic protein interface catalyzes covalent inhibition of RASG12D aspartic acid in tumors.

Weller C et al.

Science (new York, N.y.), 2025

40705880 (PubMed )
Supplement: science.ads0239_data_s1_to_s6.zip › science.ads0239_data_s4.xlsx › Sheet1

[Characteristics of KRAS and HER-family gene mutations in ampullary cancer].

Zeng LL et al.

Zhonghua Bing Li Xue Za Zhi = Chinese Journal of Pathology, 2025

Potential Resistance to Oxaliplatin-Based Regimens in Gastric Cancer Patients with ERBB2 R678Q Mutation: Evidence from a National Genomic Database.

Suzuki S et al.

Current Issues in Molecular Biology, 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: mmc2.xlsx › nSMs

Molecular and functional profiling unravels targetable vulnerabilities in colorectal cancer.

Vlachavas EI et al.

Molecular Oncology, 2025

Comprehensive Genomic Profiling of Indian Patients With Lung Cancer.

Sharma S et al.

Jco Global Oncology, 2025

40324118 (PubMed )
Supplement: DS1_GO-24-00587.pdf

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

Diverse ERBB2/ERBB3 Activating Alterations and Coalterations Have Implications for HER2/3-Targeted Therapies across Solid Tumors.

Liu D et al.

Cancer Research Communications, 2025

Comprehensive immunophenotyping of gastric adenocarcinoma identifies an inflamed class of tumors amenable to immunotherapies.

Veas Rodriguez J et al.

Journal for Immunotherapy of Cancer, 2025

40102027 (PubMed )
Supplement: jitc-13-3-s003.xlsx › Table_S3

Targetable ERBB2/HER2 Mutations in Gynecologic Malignancies: Clinicopathological, Immunohistochemical, and Molecular Correlations.

Manrai PA et al.

International Journal of Gynecological Pathology : Official Journal of the International Society of Gynecological Pathologists, 2025

Single-center analysis of a real-world cohort of patients with metastatic urothelial carcinoma evaluated by NGS: molecular landscape and efficacy of targeted therapies.

Gutiérrez Pérez C et al.

Clinical & Translational Oncology : Official Publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico, 2025

Decoding the functional impact of the cancer genome through protein-protein interactions.

Fu H et al.

Nature Reviews. Cancer, 2025

De novo familial adenomatous polyposis with germline double heterozygosity of APC/BRCA2: a case report and literature review.

Zhang TQ et al.

Hereditary Cancer in Clinical Practice, 2025

DNA damage response and repair gene mutations predict clinical outcomes in biliary tract cancer.

Tan S et al.

Cancer, 2025

39876053 (PubMed )
Supplement: supplement_1.pdf

Clinical implementation of next-generation sequencing testing and genomically-matched therapy: a real-world data in a tertiary hospital.

Kim JW et al.

Scientific Reports, 2025

Unveiling immunogenic characteristics and neoantigens in endometrial cancer with POLE hotspot mutations for improved immunotherapy.

Huang J et al.

Frontiers in Immunology, 2025

39931062 (PubMed )
Supplement: Table1.xlsx › Sheet1

The mutational landscape and actionable targets of gallbladder cancer: an ancestry-informed and comparative analysis of a Chilean population.

Erices JI et al.

Frontiers in Oncology, 2025

Genomic profiles and their associations with microsatellite instability status, tumor mutational burden, and programmed death ligand 1 expression in Chinese patients with colorectal cancer.

Luo B et al.

Journal of Gastrointestinal Oncology, 2024

The theory of massively repeated evolution and full identifications of cancer-driving nucleotides (CDNs).

Zhang L et al.

Elife, 2024

39688960 (PubMed )
Supplement: elife-99340-supp1.xlsx › CDN.Missense.gnomad

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

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

Identification of molecular subtypes for endometrial carcinoma using a 46-gene next-generation sequencing panel: a retrospective study on a consecutive cohort.

Guo Q et al.

Esmo Open, 2024

Clinical and Genomic Characterization of ERBB2-Altered Gallbladder Cancer: Exploring Differences Between an American and a Chilean Cohort.

Mondaca S et al.

Jco Global Oncology, 2024

Integrating Genetic Alterations and Histopathological Features for Enhanced Risk Stratification in Non-Muscle-Invasive Bladder Cancer.

Lillesand M et al.

Diagnostics (basel, Switzerland), 2024

39410541 (PubMed )
Supplement: diagnostics-14-02137-s001.zip › Table_S2.xlsx › Table_S2

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

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

Pinheiro M et al.

Nature Communications, 2024

Poor Prognosis among Radiation-Associated Bladder Cancer Is Defined by Clinicogenomic Features.

Wijetunga NA et al.

Cancer Research Communications, 2024

39113632 (PubMed )
Supplement: crc-24-0352_supplementary_table_s2_suppst2.xlsx › Supplementary__Table_S2

Molecular characterization of Chinese patients with small bowel adenocarcinoma.

Jin B et al.

Clinical & Translational Oncology : Official Publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico, 2024

Similar genetic profile in early and late stage urothelial tract cancer.

Stormoen DR et al.

Journal of Cancer Research and Clinical Oncology, 2024

38976041 (PubMed )
Supplement: 432_2024_5850_MOESM2_ESM.xlsx › TCGA-cohort

HER2 mutation as an emerging target in advanced breast cancer.

Bon G et al.

Cancer Science, 2024

Efficacy of immunotherapy in ARID1A-mutant solid tumors: a single-center retrospective study.

Zhou H et al.

Discover Oncology, 2024

38847966 (PubMed )
Supplement: 12672_2024_1074_MOESM2_ESM.xlsx › Sheet1
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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."