Varaico: Literature-Extracted Genetic Variants

Gene:ERBB2
Variant:p.H1047R
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ERBB2

NM_004448.4:p.H1047R

Associated Papers

Analytical and clinical validation of a novel CE-IVD kit for PIK3CA hotspot mutations in liquid biopsy samples.

Stergiopoulou D et al.

The Journal of Liquid Biopsy, 2026

PIK3CA mutation in ER-negative and HER2-positive breast cancer with apocrine differentiation.

Nozaki F et al.

Breast Cancer (tokyo, Japan), 2026

PIK3CA Alterations in NSCLC: Clinical Characteristics of a "Neglected" Population of Oncogene-Addicted Patients.

Rossi S et al.

Biomedicines, 2026

A prospective, multicenter, comprehensive genomic profile signature study in patients with EGFR-mutant advanced non-small cell lung cancer at the first-line treatment failure of osimertinib.

Shi Y et al.

Signal Transduction and Targeted Therapy, 2025

41326340 (PubMed )
Supplement: 41392_2025_2481_MOESM1_ESM.docx

Genetic Analysis of Early Neoplasia in the Breast: Next-Generation Sequencing of Flat Epithelial Atypia and Associated Ductal and Lobular Lesions.

Krings G et al.

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

Clinical impact of single-gene vs. panel sequencing in advanced HR + /HER2- breast cancer: insights and implications.

Klocker EV et al.

Npj Breast Cancer, 2025

Prolonged response to PIK3CA inhibition in an advanced hormone-positive breast cancer patient with 3 mutations in the alpha subunit of PI-3 kinase.

Merose R et al.

The Oncologist, 2025

Identification of Somatic Genetic Variants in Superficial Vascular Malformations by Liquid Biopsy in a Cohort of 88 Patients from a French Hospital.

El Sissy FN et al.

Molecular Diagnosis & Therapy, 2025

Subtype-specific prognostic implications of plasma-detected PIK3CA mutations in Vietnamese breast cancer patients.

Thao DT et al.

Frontiers in Oncology, 2025

Molecular Basis of Oncogenic PI3K Proteins.

Sheng Z et al.

Cancers, 2024

Molecular characteristics of advanced colorectal cancer and multi-hit PIK3CA mutations.

Yasin F et al.

The Oncologist, 2024

Targeted Sequencing of HER2-Positive Breast Cancer Mutations Revealed a Potential Association between PIK3CA and Trastuzumab Resistance.

Mekhamer AM et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2024

39611930 (PubMed )
Supplement: APJCP-25-4051-s001.pdf

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

Association of ESR1 Germline Variants with TP53 Somatic Variants in Breast Tumors in a Genome-wide Study.

Tjader NP et al.

Cancer Research Communications, 2024

Variation Analysis in Premenopausal and Postmenopausal Breast Cancer Cases.

Erdogdu IH et al.

Journal of Personalized Medicine, 2024

Negative Hyperselection of Resistance Mutations for Panitumumab Maintenance in RAS Wild-Type Metastatic Colorectal Cancer (PanaMa Phase II Trial, AIO KRK 0212).

Stahler A et al.

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

38289994 (PubMed )
Supplement: ccr-23-3023_supplementary_data_1_suppds1.pdf

Somatic Mutations in Latin American Breast Cancer Patients: A Systematic Review and Meta-Analysis.

Martínez-Nava GA et al.

Diagnostics (basel, Switzerland), 2024

The Study of PIK3CA Hotspot Mutations and Co-Occurring with EGFR, KRAS, and TP53 Mutations in Non-Small Cell Lung Cancer.

Zhang Y et al.

Oncotargets and Therapy, 2024

PI3K Mutation Profiles on Exons 9 (E545K and E542K) and 20 (H1047R) in Mexican Patients With HER-2 Overexpressed Breast Cancer and Its Relevance on Clinical-Pathological and Survival Biological Effects.

Nieto-Coronel T et al.

International Journal of Breast Cancer, 2024

Mutational Landscape and In-Silico Analysis of TP53, PIK3CA, and PTEN in Patients with Breast Cancer from Khyber Pakhtunkhwa.

Ahmad H et al.

Acs Omega, 2023

Whole exome sequencing identifies novel variants of PIK3CA and validation of hotspot mutation by droplet digital PCR in breast cancer among Indian population.

Kumar R et al.

Cancer Cell International, 2023

Modeling the novel SERD elacestrant in cultured fulvestrant-refractory HR-positive breast circulating tumor cells.

Dubash TD et al.

Breast Cancer Research and Treatment, 2023

Frequency and mutational spectrum of PIK3CA gene mutations in breast cancer patients: Largest and first report from Lebanon.

Hamadeh LN et al.

Gene, 2023

Molecular Characterization and Landscape of Breast cancer Models from a multi-omics Perspective.

Ortiz MMO et al.

Journal of Mammary Gland Biology and Neoplasia, 2023

Alpelisib and fulvestrant in PIK3CA-mutated hormone receptor-positive HER2-negative advanced breast cancer included in the French early access program.

Bello Roufai D et al.

Oncogene, 2023

Genetic Characterization of Ovarian Tumor Tissues from Patients with Epithelial Ovarian Cancer in a Philippine Tertiary Hospital: A Descriptive Study.

Lintao RCV et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2023

Genetic landscape and personalized tracking of tumor mutations in Vietnamese women with breast cancer.

Nguyen Hoang VA et al.

Molecular Oncology, 2023

36495126 (PubMed )
Supplement: MOL2-17-598-s001.docx

Whole exome sequencing analysis of canine urothelial carcinomas without BRAF V595E mutation: Short in-frame deletions in BRAF and MAP2K1 suggest alternative mechanisms for MAPK pathway disruption.

Thomas R et al.

Plos Genetics, 2023

Evaluation of PIK3CA mutations in advanced ER+/HER2-breast cancer in Portugal - U-PIK Project.

Peixoto A et al.

Frontiers in Molecular Biosciences, 2023

Chip-based digital Polymerase Chain Reaction as quantitative technique for the detection of PIK3CA mutations in breast cancer patients.

Giannoni-Luza S et al.

Heliyon, 2022

HER2 G776S mutation promotes oncogenic potential in colorectal cancer cells when accompanied by loss of APC function.

Mitani Y et al.

Scientific Reports, 2022

35654814 (PubMed )
Supplement: 41598_2022_13189_MOESM1_ESM.docx

Intertumor and intratumor heterogeneity of PIK3CA mutations in extramammary Paget's disease.

Kusaba Y et al.

The Journal of Dermatology, 2022

Use of Liquid Biopsy to Detect PIK3CA Mutation in Metastatic Breast Cancer.

Nakai M et al.

Journal of Nippon Medical School = Nippon Ika Daigaku Zasshi, 2022

Sclerosing Polycystic Adenoma of Salivary Glands: A Novel Neoplasm Characterized by PI3K-AKT Pathway Alterations-New Insights Into a Challenging Entity.

Skálová A et al.

The American Journal of Surgical Pathology, 2022

Sensitive and robust liquid biopsy-based detection of PIK3CA mutations in hormone-receptor-positive metastatic breast cancer patients.

Suppan C et al.

British Journal of Cancer, 2022

PIK3CA mutation in a case of CTNNB1-mutant sinonasal glomangiopericytoma.

Hong CS et al.

Cold Spring Harbor Molecular Case Studies, 2022

Circulating PIK3CA mutation detection at diagnosis in non-metastatic inflammatory breast cancer patients.

Allouchery V et al.

Scientific Reports, 2021

Oncomine™ Comprehensive Assay v3 vs. Oncomine™ Comprehensive Assay Plus.

Vestergaard LK et al.

Cancers, 2021

PIK3CA somatic alterations in invasive breast cancers: different spectrum from Caucasians to Chinese detected by next generation sequencing.

Jia M et al.

Breast Cancer (tokyo, Japan), 2021

Nanopore Identification of Single Nucleotide Mutations in Circulating Tumor DNA by Multiplexed Ligation.

Burck N et al.

Clinical Chemistry, 2021

The Correlation of Mutations and Expressions of Genes within the PI3K/Akt/mTOR Pathway in Breast Cancer-A Preliminary Study.

Kołodziej P et al.

International Journal of Molecular Sciences, 2021

Targetable alterations in invasive pleomorphic lobular carcinoma of the breast.

Riedlinger GM et al.

Breast Cancer Research : Bcr, 2021

Clinical Application of Targeted Deep Sequencing in Metastatic Colorectal Cancer Patients: Actionable Genomic Alteration in K-MASTER Project.

Lee Y et al.

Cancer Research and Treatment, 2021

The Mutational Landscape of Early-Onset Breast Cancer: A Next-Generation Sequencing Analysis.

Andrikopoulou A et al.

Frontiers in Oncology, 2021

Induction of PIK3CA alterations during neoadjuvant letrozole may improve outcome in postmenopausal breast cancer patients.

Skriver SK et al.

Breast Cancer Research and Treatment, 2020

Discovery of Targetable Genetic Alterations in NSCLC Patients with Different Metastatic Patterns Using a MassARRAY-Based Circulating Tumor DNA Assay.

Belloum Y et al.

Cells, 2020

33105541 (PubMed )
Supplement: cells-09-02337-s001.zip › cells-953206_suppl-re › Table_S1_and_S2_Updated.pdf

Detection of genomic alterations in breast cancer with circulating tumour DNA sequencing.

Kleftogiannis D et al.

Scientific Reports, 2020

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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."