Varaico: Literature-Extracted Genetic Variants

Gene:ERBB2
Variant:p.I654V
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ERBB2

NM_004448.4:p.I654V

Associated Papers

From sample to clinical insight: a review of exome sequencing in disease diagnostics.

Manjunath GK et al.

Methods (san Diego, Calif.), 2026

Comparative genomic and clinicopathological analysis uncovers contrasting molecular profiles of canine and human thyroid carcinomas.

Das S et al.

Communications Biology, 2025

41353477 (PubMed )
Supplement: 42003_2025_9225_MOESM3_ESM.xlsx › Supplementary_Data_7

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

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_S5

Comprehensive mapping elucidates high risk genotypes in primary metastatic breast cancer.

Berg T et al.

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

40121945 (PubMed )
Supplement: mmc5.xlsx › Ark1

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

Molecular Characterization and Subtyping of Breast Cancer Cell Lines Provide Novel Insights into Cancer Relevant Genes.

Pommerenke C et al.

Cells, 2024

38391914 (PubMed )
Supplement: cells-13-00301-s001.zip › Table_S2.xlsx › Mutations

Clinically relevant glioblastoma patient-derived xenograft models to guide drug development and identify molecular signatures.

Alcaniz J et al.

Frontiers in Oncology, 2023

37114125 (PubMed )
Supplement: Table_1.xlsx › Mutations

The spindle assembly checkpoint is a therapeutic vulnerability of CDK4/6 inhibitor-resistant ER+ breast cancer with mitotic aberrations.

Soria-Bretones I et al.

Science Advances, 2022

36070391 (PubMed )
Supplement: sciadv.abq4293_tables_s2_and_s3.zip › sciadv.abq4293_table_s2.xlsx › Table_S2

Targeted Next-Generation Sequencing of Thymic Epithelial Tumours Revealed Pathogenic Variants in KIT, ERBB2, KRAS, and TP53 in 30% of Thymic Carcinomas.

Szpechcinski A et al.

Cancers, 2022

Custom multi‑tumor next‑generation sequencing panel for routine molecular diagnosis of solid tumors: Validation and results from three‑year clinical use.

Chevrier S et al.

International Journal of Molecular Medicine, 2022

35244186 (PubMed )
Supplement: Supplementary_Data2.xlsx › Feuil1

Case Report: A Novel Pathomechanism in PEComa by the Loss of Heterozygosity of TP53.

Butz H et al.

Frontiers in Oncology, 2022

35419288 (PubMed )
Supplement: Table_1.xlsx › exome_variants_MAF_0.01

Aberrant Signaling Pathways in Sinonasal Intestinal-Type Adenocarcinoma.

Riobello C et al.

Cancers, 2021

34638506 (PubMed )
Supplement: cancers-13-05022-s001.zip › cancers-1416120-supplementary.pdf

Circulating tumor DNA sequencing in colorectal cancer patients treated with first-line chemotherapy with anti-EGFR.

Lim Y et al.

Scientific Reports, 2021

34381078 (PubMed )
Supplement: 41598_2021_95345_MOESM4_ESM.xlsx › Suppl._Table_3

Somatic Mutations in Circulating Cell-Free DNA and Risk for Hepatocellular Carcinoma in Hispanics.

Jiao J et al.

International Journal of Molecular Sciences, 2021

34299031 (PubMed )
Supplement: ijms-22-07411-s001.zip › Supplementary_Table_S6_Final.pdf

Germline ERBB2/HER2 Coding Variants Are Associated with Increased Risk of Myeloproliferative Neoplasms.

Braunstein EM et al.

Cancers, 2021

Functional Common and Rare ERBB2 Germline Variants Cooperate in Familial and Sporadic Cancer Susceptibility.

Bao R et al.

Cancer Prevention Research (philadelphia, Pa.), 2021

Limited Practical Utility of Liquid Biopsy in the Treated Patients with Advanced Breast Cancer.

Niwinska A et al.

Diagnostics (basel, Switzerland), 2020

Validation and clinical application of a targeted next-generation sequencing gene panel for solid and hematologic malignancies.

Prieto-Potin I et al.

Peerj, 2020

33083132 (PubMed )
Supplement: peerj-08-10069-s009.xlsx › Table_S4

Transcriptome Characterization of Matched Primary Breast and Brain Metastatic Tumors to Detect Novel Actionable Targets.

Varešlija D et al.

Journal of the National Cancer Institute, 2019

29961873 (PubMed )
Supplement: djy110_supplementary_data.zip › djy110_Supplementary_Data › djy110.xlsx › S4

The identification of patient-specific mutations reveals dual pathway activation in most patients with melanoma and activated receptor tyrosine kinases in BRAF/NRAS wild-type melanomas.

Appenzeller S et al.

Cancer, 2019

Targeted mutation detection in breast cancer using MammaSeq™.

Smith NG et al.

Breast Cancer Research : Bcr, 2019

BRAF(V600E) Kinase Domain Duplication Identified in Therapy-Refractory Melanoma Patient-Derived Xenografts.

Kemper K et al.

Cell Reports, 2016

27320919 (PubMed )
Supplement: mmc2.xlsx › Mutation_matrix

Analysis of different HER-2 mutations in breast cancer progression and drug resistance.

Sun Z et al.

Journal of Cellular and Molecular Medicine, 2015

Pro1170 Ala polymorphism in HER2-neu is associated with risk of trastuzumab cardiotoxicity.

Stanton SE et al.

Bmc Cancer, 2015

HER family kinase domain mutations promote tumor progression and can predict response to treatment in human breast cancer.

Boulbes DR et al.

Molecular Oncology, 2015

A steroid metabolizing gene variant in a polyfactorial model improves risk prediction in a high incidence breast cancer population.

Jupe ER et al.

Bba Clinical, 2014

26673457 (PubMed )
Supplement: mmc1.pdf

Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Bodian DL et al.

Plos One, 2014

24728327 (PubMed )
Supplement: pone.0094554.s002.xlsx › Table_S1

Epistatic interaction of Arg72Pro TP53 and -710 C/T VEGFR1 polymorphisms in breast cancer: predisposition and survival.

Rodrigues P et al.

Molecular and Cellular Biochemistry, 2013

Heritable variation of ERBB2 and breast cancer risk.

Breyer JP et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2009

Effect of deleterious nsSNP on the HER2 receptor based on stability and binding affinity with herceptin: a computational approach.

Rajasekaran R et al.

Comptes Rendus Biologies, 2008

Association of a common AKAP9 variant with breast cancer risk: a collaborative analysis.

Frank B et al.

Journal of the National Cancer Institute, 2008

A case-control study of the HER2 Ile655Val polymorphism and risk of breast cancer in Taiwan.

Lee SC et al.

Clinical Biochemistry, 2008

Role of the HER2 [Ile655Val] genetic polymorphism in tumorogenesis and in the risk of trastuzumab-related cardiotoxicity.

Beauclair S et al.

Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2007

Role of receptor tyrosine kinase transmembrane domains in cell signaling and human pathologies.

Li E et al.

Biochemistry, 2006

Reply: a bias in genotyping of the ERBB2 (HER2) Ile655Val variant.

Benusiglio PR et al.

Carcinogenesis, 2005

A bias in genotyping the ERBB2 (HER2) Ile655Val variant.

Frank B et al.

Carcinogenesis, 2005

Familial cancer and ARLTS1.

De Brakeleer S et al.

The New England Journal of Medicine, 2005

A haplotype analysis of HER-2 gene polymorphisms: association with breast cancer risk, HER-2 protein expression in the tumor, and disease recurrence in Korea.

Han W et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2005

The rare ERBB2 variant Ile654Val is associated with an increased familial breast cancer risk.

Frank B et al.

Carcinogenesis, 2005

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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."