Varaico: Literature-Extracted Genetic Variants

Gene:PIK3CA
Variant:p.N1044K
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PIK3CA

NM_006218.4:p.N1044K

Associated Papers

Genomic and clinicopathological characteristics of low oncotype recurrent score breast cancers with subsequent metastasis.

Liu L et al.

Histopathology, 2026

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

Rossi S et al.

Biomedicines, 2026

Comparative Analysis of a Dual DNA-RNA Panel and a DNA-Only Panel for Sarcoma: Real-World Data From a Nationwide Genomic Database.

Nakata E et al.

Cancer Science, 2026

41128349 (PubMed )
Supplement: CAS-117-156-s003.xlsx › Sheet1

Molecular basis for regulation of the class I phosphoinositide 3-kinases (PI3Ks), and their targeting in human disease.

Shaw AL et al.

Biochimica Et Biophysica Acta. Molecular and Cell Biology of Lipids, 2025

Somatic mutations in Middle East and North Africa breast cancer patients: a systematic review.

Abujamous L et al.

The Oncologist, 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

40775238 (PubMed )
Supplement: 41523_2025_805_MOESM1_ESM.pdf

Mutation profile and chromosomal abnormality in adenomyosis.

Suda K et al.

Reproduction (cambridge, England), 2025

40679511 (PubMed )
Supplement: supplementary_tables_1-12.xlsx › Suppl.Table_5

Frequent PIK3CA and GNAQ mutations in solitary pulmonary capillary haemangioma and pulmonary cavernous haemangioma: genetic link to vascular malformations.

Yeh YC et al.

Pathology, 2025

PIK3CB Inhibitor GSK2636771 in Cancers With PTEN Mutation/Deletion or Loss of PTEN Protein Expression: Results From the NCI-MATCH ECOG-ACRIN Trial (EAY131) Subprotocols N and P.

Janku F et al.

Jco Precision Oncology, 2025

40865033 (PubMed )
Supplement: protocol1_PO-25-00265.pdf

The Prevalence, Distribution, and Clinicopathological Features of Seven Lung Cancer Actionable Driver Mutations in Taiwan.

Lin YC et al.

Thoracic Cancer, 2025

Corrigendum to "POLE-Mutated Uterine Carcinosarcomas: A Clinicopathologic and Molecular Study of 11 Cases": [Modern Pathology 38 (2025) 100676].

Hammer PM et al.

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

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

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

POLE-Mutated Uterine Carcinosarcomas: A Clinicopathologic and Molecular Study of 11 Cases.

Hammer PM et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2025

Primary urethral adenocarcinoma harbors recurrent KRAS and EGFR alterations.

Zhao T et al.

Human Pathology, 2025

Clinical Impact of a Next-Generation Sequencing Approach for Glioblastoma Patients.

Vivancos Sánchez C et al.

Cancers, 2025

Non-Hotspot PIK3CA Variants Have Higher Variant Allele Frequency and are More Common in Syndromic Vascular Malformations.

Andreoti TA et al.

American Journal of Medical Genetics. Part A, 2025

The theory of massively repeated evolution and full identifications of cancer-driving nucleotides (CDNs).

Zhang L et al.

Elife, 2024

39688960 (PubMed )
Supplement: elife-99340-supp1.xlsx › CDN.Missense.gnomad

Oncogenic composite mutations can be predicted by co-mutations and their chromosomal location.

Küçükosmanoglu A et al.

Molecular Oncology, 2024

38757376 (PubMed )
Supplement: MOL2-18-2407-s001.xlsx › 1B_Cases_composite_mutations

Organismal metabolism regulates the expansion of oncogenic PIK3CA mutant clones in normal esophagus.

Herms A et al.

Nature Genetics, 2024

39169259 (PubMed )
Supplement: 41588_2024_1891_MOESM5_ESM.xlsx › Supplementary_Table_5

Mutation patterns in colorectal cancer and their relationship with prognosis.

Su Z et al.

Heliyon, 2024

39263143 (PubMed )
Supplement: mmc1.xlsx › Tabelle1

The genetic evolution of acral melanoma.

Wang M et al.

Nature Communications, 2024

39034322 (PubMed )
Supplement: 41467_2024_50233_MOESM1_ESM.pdf

Delineation of the phenotypes and genotypes of PIK3CA-related overgrowth spectrum in East asians.

Chen H et al.

Molecular Genetics and Genomics : Mgg, 2024

Characterizing multi-PIK3CA mutations across cancer types: Toward precision oncology.

Nakamura K et al.

Cancer Medicine, 2024

39054873 (PubMed )
Supplement: CAM4-13-e70052-s002.xlsx › Table_S2

NGS detection of gene rearrangements and METexon14 mutations in liquid biopsy of advanced NSCLC patients: A study of two Italian centers.

Verzè M et al.

The Journal of Liquid Biopsy, 2024

Targeted next-generation sequencing of 491 lung cancers in clinical practice: Implications for future detection strategy and targeted therapy.

Liu XD et al.

Heliyon, 2024

38496837 (PubMed )
Supplement: mmc1.xlsx › Sheet1

AutoEpiCollect, a Novel Machine Learning-Based GUI Software for Vaccine Design: Application to Pan-Cancer Vaccine Design Targeting PIK3CA Neoantigens.

Samudrala M et al.

Bioengineering (basel, Switzerland), 2024

Exploring Co-occurring POLE Exonuclease and Non-exonuclease Domain Mutations and Their Impact on Tumor Mutagenicity.

Shah SM et al.

Cancer Research Communications, 2024

38282550 (PubMed )
Supplement: crc-23-0312-s02.xlsx › Fig3A_CRC_data

APC/PIK3CA mutations and β-catenin status predict tankyrase inhibitor sensitivity of patient-derived colorectal cancer cells.

Chen M et al.

British Journal of Cancer, 2024

Genomic profiling and pre-clinical modelling of breast cancer leptomeningeal metastasis reveals acquisition of a lobular-like phenotype.

Fitzpatrick A et al.

Nature Communications, 2023

37973922 (PubMed )
Supplement: 41467_2023_43242_MOESM1_ESM.pdf

Identification of cancer driver mutations in liquid-based cytology samples for the screening of endometrial diseases.

Matsuura M et al.

Bjc Reports, 2023

39516270 (PubMed )
Supplement: 44276_2023_20_MOESM3_ESM.xlsx › Table_S6

The genetic evolution of acral melanoma.

Wang M et al.

Biorxiv : the Preprint Server for Biology, 2023

Baseline Mutations and ctDNA Dynamics as Prognostic and Predictive Factors in ER-Positive/HER2-Negative Metastatic Breast Cancer Patients.

Pascual J et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023

37490393 (PubMed )
Supplement: ccr-23-0956_supplementary_table_s2_suppts2.xlsx › PEARL_baseline_mutations

Concordance of Targeted Sequencing from Circulating Tumor DNA and Paired Tumor Tissue for Early Breast Cancer.

Huang CC et al.

Cancers, 2023

Concordance between cancer gene alterations in tumor and circulating tumor DNA correlates with poor survival in a real-world precision-medicine population.

Rosenberg S et al.

Molecular Oncology, 2023

36694946 (PubMed )
Supplement: MOL2-17-1844-s003.xlsx › 2a.Studied_gene

Standing in the canine precision medicine knowledge gap: Improving annotation of canine cancer genomic biomarkers through systematic comparative analysis of human cancer mutations in COSMIC.

Sakthikumar S et al.

Veterinary and Comparative Oncology, 2023

37248814 (PubMed )
Supplement: supplement_1.xlsx › Suppl._Table_6

Molecular profiling of a real-world breast cancer cohort with genetically inferred ancestries reveals actionable tumor biology differences between European ancestry and African ancestry patient populations.

Miyashita M et al.

Breast Cancer Research : Bcr, 2023

37231433 (PubMed )
Supplement: 13058_2023_1627_MOESM4_ESM.xlsx › HR_HER2-__mutations_

Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants.

Mussa A et al.

Journal of Medical Genetics, 2023

Oncogenic mutations of PIK3CA lead to increased membrane recruitment driven by reorientation of the ABD, p85 and C-terminus.

Jenkins ML et al.

Nature Communications, 2023

PIK3CA gain-of-function mutation in adipose tissue induces metabolic reprogramming with Warburg-like effect and severe endocrine disruption.

Ladraa S et al.

Science Advances, 2022

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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."