Varaico: Literature-Extracted Genetic Variants

Gene:ERBB2
Variant:p.G309A
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ERBB2

NM_004448.4:p.G309A

Associated Papers

Hotspot mutations in HER2 interfaces destabilize structure, causing breast cancer treatment failure.

Dey P et al.

Oncogene, 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

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

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

Hotspot mutations in HER2 interfaces destabilize structure, causing breast cancer treatment failure.

De A et al.

Research Square, 2025

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

Hao W et al.

International Journal of Molecular Medicine, 2025

HER2 mutation as an emerging target in advanced breast cancer.

Bon G et al.

Cancer Science, 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

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

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

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

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

Clinical value of next-generation sequencing in guiding decisions regarding endocrine therapy for advanced HR-positive/HER-2-negative breast cancer.

Lyu D et al.

Chinese Journal of Cancer Research = Chung-kuo Yen Cheng Yen Chiu, 2022

36199538 (PubMed )
Supplement: 58b8d823-4627-4df2-9d8a-2dd4e61c9057.pdf

Detection of oncogenic and clinically actionable mutations in cancer genomes critically depends on variant calling tools.

Garcia-Prieto CA et al.

Bioinformatics (oxford, England), 2022

35512388 (PubMed )
Supplement: btac306_supplementary_data.zip › Supplementary_files.zip › Supplementary_files › Supplementary_file_7.xlsx › Sheet1

Clinically actionable cancer somatic variants (CACSV): a tumor interpreted dataset for analytical workflows.

Sobahy TM et al.

Bmc Medical Genomics, 2022

35468810 (PubMed )
Supplement: 12920_2022_1235_MOESM3_ESM.xlsx › OncoKB_unspecified-alterations.

Ensemble of nucleic acid absolute quantitation modules for copy number variation detection and RNA profiling.

Wu LR et al.

Nature Communications, 2022

35379811 (PubMed )
Supplement: 41467_2022_29487_MOESM4_ESM.xlsx › 175_plex_primers

Molecular Pathology of Breast Tumors: Diagnostic and Actionable Genetic Alterations.

Ross DS et al.

Surgical Pathology Clinics, 2021

Targeting HER2 genomic alterations in non-small cell lung cancer.

Zeng J et al.

Journal of the National Cancer Center, 2021

Clinicopathological Features, Tumor Mutational Burden, and Tumour-Infiltrating Lymphocyte Interplay in ERBB2-Mutated Breast Cancer: In Silico Analysis.

Uchida S et al.

Pathology Oncology Research : Por, 2021

34257600 (PubMed )
Supplement: Table1.XLSX › Sheet1

Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Hescheler DA et al.

Frontiers in Endocrinology, 2021

34630336 (PubMed )
Supplement: Table_1.xlsx › Tab2

First Nationwide Molecular Screening Program in Spain for Patients With Advanced Breast Cancer: Results From the AGATA SOLTI-1301 Study.

Pernas S et al.

Frontiers in Oncology, 2021

Targetable ERBB2 mutation status is an independent marker of adverse prognosis in estrogen receptor positive, ERBB2 non-amplified primary lobular breast carcinoma: a retrospective in silico analysis of public datasets.

Kurozumi S et al.

Breast Cancer Research : Bcr, 2020

Somatic Mutations in HER2 and Implications for Current Treatment Paradigms in HER2-Positive Breast Cancer.

Gaibar M et al.

Journal of Oncology, 2020

Molecular landscape and efficacy of HER2-targeted therapy in patients with HER2-mutated metastatic breast cancer.

Yi Z et al.

Npj Breast Cancer, 2020

The HER2 S310F Mutant Can Form an Active Heterodimer with the EGFR, Which Can Be Inhibited by Cetuximab but Not by Trastuzumab as well as Pertuzumab.

Shin JW et al.

Biomolecules, 2019

Pan-Cancer Landscape and Analysis of ERBB2 Mutations Identifies Poziotinib as a Clinically Active Inhibitor and Enhancer of T-DM1 Activity.

Robichaux JP et al.

Cancer Cell, 2019

Prevalence and role of HER2 mutations in cancer.

Cocco E et al.

Pharmacology & Therapeutics, 2019

HER2-L755S mutation induces hyperactive MAPK and PI3K-mTOR signaling, leading to resistance to HER2 tyrosine kinase inhibitor treatment.

Li J et al.

Cell Cycle (georgetown, Tex.), 2019

Recent advances of therapeutic targets based on the molecular signature in breast cancer: genetic mutations and implications for current treatment paradigms.

Lima ZS et al.

Journal of Hematology & Oncology, 2019

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

Combined Blockade of Activating ERBB2 Mutations and ER Results in Synthetic Lethality of ER+/HER2 Mutant Breast Cancer.

Croessmann S et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2019

Identification of Genetic Mutations in Cancer: Challenge and Opportunity in the New Era of Targeted Therapy.

Jin J et al.

Frontiers in Oncology, 2019

Identification of an Activating Mutation in the Extracellular Domain of HER2 Conferring Resistance to Pertuzumab.

Zhang Y et al.

Oncotargets and Therapy, 2019

Integrative omics analyses broaden treatment targets in human cancer.

Sengupta S et al.

Genome Medicine, 2018

30053901 (PubMed )
Supplement: 13073_2018_564_MOESM2_ESM.xlsx › 10

Genomic alterations of ERBB receptors in cancer: clinical implications.

Mishra R et al.

Oncotarget, 2017

Clinical and pathological characterization of HER2 mutations in human breast cancer: a systematic review of the literature.

Petrelli F et al.

Breast Cancer Research and Treatment, 2017

How is Herstatin, a tumor suppressor splice variant of the oncogene HER2, regulated?

Silipo M et al.

Rna Biology, 2017

Determination of somatic oncogenic mutations linked to target-based therapies using MassARRAY technology.

Ibarrola-Villava M et al.

Oncotarget, 2016

26968814 (PubMed )
Supplement: oncotarget-07-22543-s001.pdf

Functional annotation of rare gene aberration drivers of pancreatic cancer.

Tsang YH et al.

Nature Communications, 2016

26806015 (PubMed )
Supplement: ncomms10500-s2.xls › Sheet1

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

Sun Z et al.

Journal of Cellular and Molecular Medicine, 2015

HER2 missense mutations have distinct effects on oncogenic signaling and migration.

Zabransky DJ et al.

Proceedings of the National Academy of Sciences of the United States of America, 2015

Role of HER2 mutations in refractory metastatic breast cancers: targeted sequencing results in patients with refractory breast cancer.

Park YH et al.

Oncotarget, 2015

26397225 (PubMed )
Supplement: oncotarget-06-32027-s001.pdf
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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."