Varaico: Literature-Extracted Genetic Variants

Gene:PIK3CA
Variant:p.H1047Q
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PIK3CA

NM_006218.4:p.H1047Q

Associated Papers

Comparison of somatic variant oncogenicity classification using ClinGen/CGC/VICC guidelines and QIAGEN Clinical Insight Interpret decision support software.

Goverdhan A et al.

Cancer Genetics, 2025

Efficacy of ATR Kinase Inhibitor Elimusertib Monotherapy or Combination in Tumors with DNA Damage Response Pathway and Other Genomic Alterations.

Varadarajan K et al.

Molecular Cancer Therapeutics, 2025

40300249 (PubMed )
Supplement: mct-24-0884_supplementary_table_2_suppst2.pdf

Clinicogenomic landscape and function of PIK3CA , AKT1 , and PTEN mutations in breast cancer.

Tao JJ et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Genetic Alterations, Therapy Response, and Survival Among Patients With Triple-Negative Breast Cancer: A Secondary Analysis of a Randomized Clinical Trial.

Richters L et al.

Jama Network Open, 2025

40009381 (PubMed )
Supplement: jamanetwopen-e2461639-s002.pdf

An Analysis of Genetic Polymorphisms in 76 Genes Related to the Development of Ovarian Tumors of Different Aggressiveness.

Szafron LA et al.

International Journal of Molecular Sciences, 2024

39456660 (PubMed )
Supplement: ijms-25-10876-s001.zip › Supplement-variants.xlsx › 44.genes.SNP_all_variants

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

Functional characterization of PI3K C2 domain mutations detected in breast cancer circulating tumor cells and metastatic cells.

Smit DJ et al.

Cellular Signalling, 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

Detection of driver mutations and genomic signatures in endometrial cancers using artificial intelligence algorithms.

Stan A et al.

Plos One, 2024

38408048 (PubMed )
Supplement: pone.0299114.s011.xlsx › Supplementary_Table_S6

Intragenic EGFR::EGFR.E1E8 Fusion (EGFRvIII) in 4331 Solid Tumors.

Zheng L et al.

Cancers, 2023

38201434 (PubMed )
Supplement: cancers-16-00006-s001.zip › cancers-2545478-supplementary.pdf

Mining cancer genomes for change-of-metabolic-function mutations.

Tu KJ et al.

Communications Biology, 2023

37950065 (PubMed )
Supplement: 42003_2023_5475_MOESM2_ESM.pdf

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

Circulating Tumor DNA Analysis on Metastatic Prostate Cancer with Disease Progression.

Bang S et al.

Cancers, 2023

37568814 (PubMed )
Supplement: cancers-15-03998-s001.zip › Supplementary_Table_S3_Gene_Panel_Information.xlsx › Somatic_variants

Multigene panel next generation sequencing in metastatic colorectal cancer in an Australian population.

Nindra U et al.

Plos One, 2023

37796807 (PubMed )
Supplement: pone.0292087.s001.xlsx › Sheet1

Profiling PIK3CA variants in disorders of somatic mosaicism.

Mojarad BA et al.

Genetics in Medicine Open, 2023

39669231 (PubMed )
Supplement: mmc2.xlsx › Sheet1

[PIK3CA gene mutations in Chinese women with HR+/HER2- breast cancer].

Wu SF et al.

Zhonghua Bing Li Xue Za Zhi = Chinese Journal of Pathology, 2022

Phenotypic plasticity and genetic control in colorectal cancer evolution.

Househam J et al.

Nature, 2022

36289336 (PubMed )
Supplement: 41586_2022_5311_MOESM7_ESM.xlsx › Table_S4

Uterine lavage identifies cancer mutations and increased TP53 somatic mutation burden in individuals with ovarian cancer.

Ghezelayagh TS et al.

Cancer Research Communications, 2022

36311816 (PubMed )
Supplement: crc-22-0314-s02.xlsx › Table_S6_List_of_mutations

Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

White JA et al.

Cancer Research Communications, 2022

36922933 (PubMed )
Supplement: crc-22-0136-s01.xlsx › ST3_Known_Somatic_Variants

Somatic mutation analysis of Mesonephric-Like adenocarcinoma and associated putative precursor Lesions: Insight into pathogenesis and potential molecular treatment targets.

Arslanian E et al.

Gynecologic Oncology Reports, 2022

Mutational Analysis of Triple-Negative Breast Cancer Using Targeted Kinome Sequencing.

Yoo TK et al.

Journal of Breast Cancer, 2022

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

Multifocal Organoid Capturing of Colon Cancer Reveals Pervasive Intratumoral Heterogenous Drug Responses.

Kim SC et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2022

34918496 (PubMed )
Supplement: ADVS-9-2103360-s002.xlsx › Table_S2A

Usefulness of Circulating Tumor DNA in Identifying Somatic Mutations and Tracking Tumor Evolution in Patients With Non-small Cell Lung Cancer.

Roosan MR et al.

Chest, 2021

33878340 (PubMed )
Supplement: mmc1.pdf

Morphological, immunohistochemical, and genetic analyses of bronchiolar adenoma and its putative variants.

Shao J et al.

The Journal of Pathology. Clinical Research, 2021

Genomic profile of advanced breast cancer in circulating tumour DNA.

Kingston B et al.

Nature Communications, 2021

33893289 (PubMed )
Supplement: 41467_2021_22605_MOESM4_ESM.xlsx › SNVs_Indels

Spatially interacting phosphorylation sites and mutations in cancer.

Huang KL et al.

Nature Communications, 2021

33875650 (PubMed )
Supplement: 41467_2021_22481_MOESM4_ESM.xlsx › TableS5.ActMutationClusters

The Spectrum, Tendency and Predictive Value of PIK3CA Mutation in Chinese Colorectal Cancer Patients.

Fu X et al.

Frontiers in Oncology, 2021

RBM10 Deficiency Is Associated With Increased Immune Activity in Lung Adenocarcinoma.

Liu B et al.

Frontiers in Oncology, 2021

34367963 (PubMed )
Supplement: Table_3.xlsx › Table_S3

Utility of a custom designed next generation DNA sequencing gene panel to molecularly classify endometrial cancers according to The Cancer Genome Atlas subgroups.

Miller EM et al.

Bmc Medical Genomics, 2020

33256706 (PubMed )
Supplement: 12920_2020_824_MOESM5_ESM.xlsx › Sheet1

Detailed analysis of phenotypes and genotypes in megalencephaly-capillary malformation-polymicrogyria syndrome caused by somatic mosaicism of PIK3CA mutations.

Park HJ et al.

Orphanet Journal of Rare Diseases, 2020

Whole-genome sequencing of glioblastoma reveals enrichment of non-coding constraint mutations in known and novel genes.

Sakthikumar S et al.

Genome Biology, 2020

32513296 (PubMed )
Supplement: 13059_2020_2035_MOESM3_ESM.xlsx › Additional_file_3_-_Table_S2

Phase and context shape the function of composite oncogenic mutations.

Gorelick AN et al.

Nature, 2020

32461694 (PubMed )
Supplement: NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx › Table_S2._Composite_mutations

Prevalence and characteristics of PIK3CA mutation in mismatch repair-deficient colorectal cancer.

Li W et al.

Journal of Cancer, 2020

32328187 (PubMed )
Supplement: jcav11p3827s1.pdf

The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.

Punta M et al.

Frontiers in Immunology, 2020

33133066 (PubMed )
Supplement: Table_1.xlsx › Drivers-not-HR

Analysis of error profiles in deep next-generation sequencing data.

Ma X et al.

Genome Biology, 2019

30867008 (PubMed )
Supplement: 13059_2019_1659_MOESM1_ESM.xlsx › S3_b

Targeted mutation detection in breast cancer using MammaSeq™.

Smith NG et al.

Breast Cancer Research : Bcr, 2019

30736836 (PubMed )
Supplement: 13058_2019_1102_MOESM7_ESM.xlsx › Solid_Tumors

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

Clinicopathological characterization of SMAD4-mutated intestinal adenocarcinomas: A case-control study.

Liao X et al.

Plos One, 2019

30730996 (PubMed )
Supplement: pone.0212142.s001.xlsx › SMAD4_cases

Genomic Comparison of Endometrioid Endometrial Carcinoma and Its Precancerous Lesions in Chinese Patients by High-Depth Next Generation Sequencing.

Wang Y et al.

Frontiers in Oncology, 2019

30886832 (PubMed )
Supplement: Table_2.xls › Table_2

The PIK3CA E542K and E545K mutations promote glycolysis and proliferation via induction of the β-catenin/SIRT3 signaling pathway in cervical cancer.

Jiang W et al.

Journal of Hematology & Oncology, 2018

The prognostic effects of somatic mutations in ER-positive breast cancer.

Griffith OL et al.

Nature Communications, 2018

30181556 (PubMed )
Supplement: 41467_2018_5914_MOESM6_ESM.xlsx › Combined_All_HR_
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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."