Varaico: Literature-Extracted Genetic Variants

Gene:ERBB2
Variant:p.H1047L
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ERBB2

NM_004448.4:p.H1047L

Associated Papers

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

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

Yasin F et al.

The Oncologist, 2024

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

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

Hamadeh LN et al.

Gene, 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

Serial circulating tumor DNA monitoring of CDK4/6 inhibitors response in metastatic breast cancer.

Chin YM et al.

Cancer Science, 2022

35201661 (PubMed )
Supplement: CAS-113-1808-s001.docx

Utility of Select Gene Mutation Detection in Tumors by the Idylla Rapid Multiplex PCR Platform in Comparison to Next-Generation Sequencing.

Nkosi D et al.

Genes, 2022

35627184 (PubMed )
Supplement: genes-13-00799-s001.zip › genes-1613678-supplementary.pdf

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

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

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

Triplet Therapy with Palbociclib, Taselisib, and Fulvestrant in PIK3CA-Mutant Breast Cancer and Doublet Palbociclib and Taselisib in Pathway-Mutant Solid Cancers.

Pascual J et al.

Cancer Discovery, 2021

PIK3CA mutation enrichment and quantitation from blood and tissue.

Keraite I et al.

Scientific Reports, 2020

Genetic mutation profile of Chinese HER2-positive breast cancers and genetic predictors of responses to Neoadjuvant anti-HER2 therapy.

Li K et al.

Breast Cancer Research and Treatment, 2020

Frequency and spectrum of PIK3CA somatic mutations in breast cancer.

Martínez-Sáez O et al.

Breast Cancer Research : Bcr, 2020

A Systematic Review of the Prevalence and Diagnostic Workup of PIK3CA Mutations in HR+/HER2- Metastatic Breast Cancer.

Anderson EJ et al.

International Journal of Breast Cancer, 2020

Comparison of TCGA and GENIE genomic datasets for the detection of clinically actionable alterations in breast cancer.

Kaur P et al.

Scientific Reports, 2019

30728399 (PubMed )
Supplement: 41598_2018_37574_MOESM1_ESM.pdf

Correlation between circulating cell-free PIK3CA tumor DNA levels and treatment response in patients with PIK3CA-mutated metastatic breast cancer.

Kodahl AR et al.

Molecular Oncology, 2018

The landscape of somatic mutations in Indonesian cervical cancer is predominated by the PI3K pathway.

Spaans VM et al.

Gynecologic Oncology, 2018

Identification of frequent somatic mutations in inflammatory breast cancer.

Matsuda N et al.

Breast Cancer Research and Treatment, 2017

Frequent PIK3CA activating mutations in nipple adenomas.

Liau JY et al.

Histopathology, 2017

Clinical implications of routine genomic mutation sequencing in PIK3CA/AKT1 and KRAS/NRAS/BRAF in metastatic breast cancer.

Cejalvo JM et al.

Breast Cancer Research and Treatment, 2016

Comparison of KRAS mutation status between primary tumor and metastasis in Chinese colorectal cancer patients.

Li ZZ et al.

Medical Oncology (northwood, London, England), 2016

Molecular evaluation of PIK3CA gene mutation in breast cancer: determination of frequency, distribution pattern and its association with clinicopathological findings in Indian patients.

Ahmad F et al.

Medical Oncology (northwood, London, England), 2016

Somatic Mutations of PI3K in Early and Advanced Gallbladder Cancer: Additional Options for an Orphan Cancer.

Roa I et al.

The Journal of Molecular Diagnostics : Jmd, 2016

Distinct Subtypes of Gastric Cancer Defined by Molecular Characterization Include Novel Mutational Signatures with Prognostic Capability.

Li X et al.

Cancer Research, 2016

Diagnostic Accuracy of PIK3CA Mutation Detection by Circulating Free DNA in Breast Cancer: A Meta-Analysis of Diagnostic Test Accuracy.

Zhou Y et al.

Plos One, 2016

Impact of Concurrent PIK3CA Mutations on Response to EGFR Tyrosine Kinase Inhibition in EGFR-Mutant Lung Cancers and on Prognosis in Oncogene-Driven Lung Adenocarcinomas.

Eng J et al.

Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer, 2015

Identification of KRAS and PIK3CA but not BRAF mutations in patients with gastric cancer.

Lu W et al.

Molecular Medicine Reports, 2015

Profiling of actionable gene alterations in ovarian cancer by targeted deep sequencing.

Takenaka M et al.

International Journal of Oncology, 2015

Significance of PIK3CA Mutations in Patients with Early Breast Cancer Treated with Adjuvant Chemotherapy: A Hellenic Cooperative Oncology Group (HeCOG) Study.

Papaxoinis G et al.

Plos One, 2015

PIK3CA mutations in Peruvian patients with HER2-amplified and triple negative non-metastatic breast cancers.

Castaneda CA et al.

Hematology/oncology and Stem Cell Therapy, 2014

Targeted PI3K/AKT/mTOR therapy for metastatic carcinomas of the cervix: A phase I clinical experience.

Hou MM et al.

Oncotarget, 2014

Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.

Keppler-Noreuil KM et al.

American Journal of Medical Genetics. Part A, 2014

Analysis of PIK3CA exon 9 and 20 mutations in breast cancers using PCR-HRM and PCR-ARMS: correlation with clinicopathological criteria.

Harlé A et al.

Oncology Reports, 2013

Mutational analysis of cutaneous squamous cell carcinomas and verrucal keratosis in patients taking BRAF inhibitors.

Anforth R et al.

Pigment Cell & Melanoma Research, 2012

Detection of tumor PIK3CA status in metastatic breast cancer using peripheral blood.

Higgins MJ et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2012

PIK3CA mutation impact on survival in breast cancer patients and in ERα, PR and ERBB2-based subgroups.

Cizkova M et al.

Breast Cancer Research : Bcr, 2012

Phosphatidylinositol-3-kinase and AKT1 mutations occur early in breast carcinoma.

Dunlap J et al.

Breast Cancer Research and Treatment, 2010

Detection of PIK3CA mutations in circulating free DNA in patients with breast cancer.

Board RE et al.

Breast Cancer Research and Treatment, 2010

PIK3CA in breast carcinoma: a mutational analysis of sporadic and hereditary cases.

Michelucci A et al.

Diagnostic Molecular Pathology : the American Journal of Surgical Pathology, Part B, 2009

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