Varaico: Literature-Extracted Genetic Variants

Gene:ERBB2
Variant:p.R143Q
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ERBB2

NM_004448.4:p.R143Q

Associated Papers

Genomic alterations linked to recurrence risk in high-grade serous ovarian cancer revealed by deep targeted sequencing.

Park YH et al.

Scientific Reports, 2025

41413429 (PubMed )
Supplement: 41598_2025_26481_MOESM2_ESM.xlsx › Supplementary_Table_S2

A First-in-Human Study of ATM Inhibitor Lartesertib as Monotherapy in Patients with Advanced Solid Tumors.

Siu LL et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

40875525 (PubMed )
Supplement: ccr-25-1648_supplementary_table_s5_suppts5.xlsx › Sheet1

Precision in prediction: tailoring machine learning models for breast cancer missense variants pathogenicity prediction.

Ahmad RM et al.

Briefings in Bioinformatics, 2025

41263939 (PubMed )
Supplement: supplementary_materials_bbaf611_1_.zip › Supplementary_materials_bbaf611 › Supplementary_Table_S8.xlsx › Sheet1

Lazertinib for Patients with NSCLC Harboring Uncommon EGFR Mutations: A Phase II Multicenter Trial.

Park S et al.

Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer, 2025

Integrating genomic and transcriptome features for characterization and prognostic prediction of angioimmunoblastic T-cell lymphoma.

Wei C et al.

Annals of Hematology, 2025

40906017 (PubMed )
Supplement: 277_2025_6589_MOESM3_ESM.xlsx › Sheet1

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

Multi-gene panel sequencing reveals the relationship between driver gene mutation and clinical characteristics in lung adenocarcinoma.

Li J et al.

Discover Oncology, 2025

40053265 (PubMed )
Supplement: 12672_2025_2008_MOESM1_ESM.xlsx › Table_S2

Identification of potentially deleterious mutations in gastric cancer using patient-derived xenograft models.

Kong L et al.

Frontiers in Genetics, 2025

41696640 (PubMed )
Supplement: Supplementaryfile1.zip › 20260103_SupMaterial › Supplementary_Table_S4.XLSX › Sheet1

Molecular landscape of ERBB2 alterations in 3000 advanced NSCLC patients.

Hong L et al.

Npj Precision Oncology, 2024

Clinical Applications of Comprehensive Genomic Profiling in Advanced Non-Small-Cell Lung Cancer-A Case Series.

Tsai CM et al.

Current Oncology (toronto, Ont.), 2024

Somatic mutations that affect early genetic progression and immune microenvironment in gastric carcinoma.

Li X et al.

Pathology, Research and Practice, 2024

ERBB2-Mutant Gastrointestinal Tumors Represent Heterogeneous Molecular Biology, Particularly in Microsatellite Instability, Tumor Mutation Burden, and Co-Mutated Genes: An In Silico Study.

Uchida S et al.

Current Issues in Molecular Biology, 2023

37754252 (PubMed )
Supplement: cimb-45-00468-s001.zip › Table_S1.xlsx › Sheet1

Clinical Implication of HER2 Aberration in Patients With Metastatic Cancer Using Next-Generation Sequencing: A Pan-Tumor Analysis.

Jung J et al.

Jco Precision Oncology, 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

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

Vaghi C et al.

Cancer Treatment Reviews, 2023

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

Schubert L et al.

Frontiers in Oncology, 2023

37168365 (PubMed )
Supplement: Table_4.xlsx › ERBB2_mutations

Whole-exome sequencing reveals a comprehensive germline mutation landscape and identifies twelve novel predisposition genes in Chinese prostate cancer patients.

Liang Y et al.

Plos Genetics, 2022

Germline Variants Associated with Nasopharyngeal Carcinoma Predisposition Identified through Whole-Exome Sequencing.

Lee NY et al.

Cancers, 2022

35954343 (PubMed )
Supplement: cancers-14-03680-s001.zip › NPC_WES_study_Table_S3.xlsx › All

Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Yu H et al.

Frontiers in Oncology, 2022

36072793 (PubMed )
Supplement: Table_2.xlsx › germline_alterations

Clinical Utility of Circulating Cell-Free DNA Mutations in Anaplastic Thyroid Carcinoma.

Qin Y et al.

Thyroid : Official Journal of the American Thyroid Association, 2021

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

Braunstein EM et al.

Cancers, 2021

Correlation of mutational landscape and survival outcome of peripheral T-cell lymphomas.

Ye Y et al.

Experimental Hematology & Oncology, 2021

33546774 (PubMed )
Supplement: 40164_2021_200_MOESM2_ESM.xlsx › Table_S2

Clinical implications of plasma circulating tumor DNA in gynecologic cancer patients.

Charo LM et al.

Molecular Oncology, 2021

32881280 (PubMed )
Supplement: MOL2-15-67-s001.docx

Mutation Profile Assessed by Next-Generation Sequencing (NGS) of Circulating Tumor DNA (ctDNA) in Chinese Lung Adenocarcinoma Patients: Analysis of Real-World Data.

Zhao S et al.

Biomed Research International, 2021

Identifying Actionable Variants Using Capture-Based Targeted Sequencing in 563 Patients With Non-Small Cell Lung Carcinoma.

Jiang H et al.

Frontiers in Oncology, 2021

35186718 (PubMed )
Supplement: Table_1.xlsx › Supplementary_Table_2

Circulating Tumour DNA Sequencing Identifies a Genetic Resistance-Gap in Colorectal Cancers with Acquired Resistance to EGFR-Antibodies and Chemotherapy.

Knebel FH et al.

Cancers, 2020

Repotrectinib Exhibits Potent Antitumor Activity in Treatment-Naïve and Solvent-Front-Mutant ROS1-Rearranged Non-Small Cell Lung Cancer.

Yun MR et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2020

Clinicopathological and Molecular Analysis of 45 Cases of Pure Mucinous Breast Cancer.

Yim HE et al.

Frontiers in Oncology, 2020

Resectable lung lesions malignancy assessment and cancer detection by ultra-deep sequencing of targeted gene mutations in plasma cell-free DNA.

Peng M et al.

Journal of Medical Genetics, 2019

30981987 (PubMed )
Supplement: jmedgenet-2018-105825supp001.xlsx › Table_S3

Molecular alterations and poziotinib efficacy, a pan-HER inhibitor, in human epidermal growth factor receptor 2 (HER2)-positive breast cancers: Combined exploratory biomarker analysis from a phase II clinical trial of poziotinib for refractory HER2-positive breast cancer patients.

Kim JY et al.

International Journal of Cancer, 2019

A germline alteration of ERBB2 increases the risk of breast cancer in Chinese Han women with a familial history of malignant tumors.

Ju Y et al.

Oncology Letters, 2019

Clinical Implications of Plasma-Based Genotyping With the Delivery of Personalized Therapy in Metastatic Non-Small Cell Lung Cancer.

Aggarwal C et al.

Jama Oncology, 2019

Blood-based monitoring identifies acquired and targetable driver HER2 mutations in endocrine-resistant metastatic breast cancer.

Medford AJ et al.

Npj Precision Oncology, 2019

Discovery of actionable genetic alterations with targeted panel sequencing in children with relapsed or refractory solid tumors.

Lee JW et al.

Plos One, 2019

31747416 (PubMed )
Supplement: pone.0224227.s002.xlsx › SNV

Molecular Landscape of ERBB2/ERBB3 Mutated Colorectal Cancer.

Loree JM et al.

Journal of the National Cancer Institute, 2018

The Clinical Impact of Comprehensive Genomic Testing of Circulating Cell-Free DNA in Advanced Lung Cancer.

Laufer-Geva S et al.

Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer, 2018

Molecular characterization and integrative genomic analysis of a panel of newly established penile cancer cell lines.

Zhou QH et al.

Cell Death & Disease, 2018

Analysis of Tissue and Circulating Tumor DNA by Next-Generation Sequencing of Hepatocellular Carcinoma: Implications for Targeted Therapeutics.

Ikeda S et al.

Molecular Cancer Therapeutics, 2018

Therapeutic strategies and genetic profile comparisons in small cell carcinoma and large cell neuroendocrine carcinoma of the lung using next-generation sequencing.

Ito M et al.

Oncotarget, 2017

ARID1B alterations identify aggressive tumors in neuroblastoma.

Lee SH et al.

Oncotarget, 2017

28521285 (PubMed )
Supplement: oncotarget-08-45943-s002.xlsx › SupplTable2

Impact of ERBB2 mutations on in vitro sensitivity of bladder cancer to lapatinib.

de Martino M et al.

Cancer Biology & Therapy, 2014

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
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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."