Varaico: Literature-Extracted Genetic Variants

Gene:PIK3CA
Variant:p.C378R
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PIK3CA

NM_006218.4:p.C378R

Associated Papers

Landscape of cancer associated EpCAM mutations: molecular modeling, predictive insights and impact on patient survival.

Dhotare PS et al.

Bmc Cancer, 2025

40597801 (PubMed )
Supplement: 12885_2025_14455_MOESM1_ESM.zip › Supplementary_tables.pdf

Stratified Medicine Pediatrics: Cell-Free DNA and Serial Tumor Sequencing Identifies Subtype-Specific Cancer Evolution and Epigenetic States.

George SL et al.

Cancer Discovery, 2025

39693475 (PubMed )
Supplement: cd-24-0916_supplementary_table_2_suppst2.xlsx › Sheet1

Comprehensive immunophenotyping of gastric adenocarcinoma identifies an inflamed class of tumors amenable to immunotherapies.

Veas Rodriguez J et al.

Journal for Immunotherapy of Cancer, 2025

40102027 (PubMed )
Supplement: jitc-13-3-s003.xlsx › Table_S3

Patient-derived rhabdomyosarcoma cells recapitulate the genetic and transcriptomic landscapes of primary tumors.

Hu Y et al.

Iscience, 2024

39319271 (PubMed )
Supplement: mmc5.xlsx › Table_S4

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

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

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 › Fig3B_EC_data

Genomic landscape and tumor mutational features of resected preinvasive to invasive lung adenocarcinoma.

Lin Y et al.

Frontiers in Oncology, 2024

38803537 (PubMed )
Supplement: Table_1.xlsx › Table_S3

Case report: Characterization of the immunologic and molecular landscape in a unique presentation of invasive lobular carcinoma with concurrent uterine carcinosarcoma treated with immunotherapy.

Riedinger CJ et al.

Frontiers in Immunology, 2024

Epidemiology of the disorders of the Pik3ca-related overgrowth spectrum (Pros).

Reynolds G et al.

European Journal of Human Genetics : Ejhg, 2023

Altered cytoplasmic and nuclear ADP-ribosylation levels analyzed with an improved ADP-ribose binder are a prognostic factor in renal cell carcinoma.

Schraml P et al.

The Journal of Pathology. Clinical Research, 2023

36999983 (PubMed )
Supplement: CJP2-9-273-s001.xlsx › Tumor_14

Integrated multi-omics for rapid rare disease diagnosis on a national scale.

Lunke S et al.

Nature Medicine, 2023

37291213 (PubMed )
Supplement: 41591_2023_2401_MOESM1_ESM.pdf

PIK3CA and PIK3R1 tumor mutational landscape in a pan-cancer patient cohort and its association with pathway activation and treatment efficacy.

Tharin Z et al.

Scientific Reports, 2023

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

Profiling PIK3CA variants in disorders of somatic mosaicism.

Mojarad BA et al.

Genetics in Medicine Open, 2023

39669231 (PubMed )
Supplement: mmc2.xlsx › Sheet1

Phenotypic plasticity and genetic control in colorectal cancer evolution.

Househam J et al.

Nature, 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

Complex vascular anomalies and tissue overgrowth of limbs associated with increased skin temperature and peripheral venous dilatation: parks weber syndrome or PROS?

Su LX et al.

Hereditas, 2022

Mismatch Repair Deficiency and Somatic Mutations in Human Sinonasal Tumors.

Hieggelke L et al.

Cancers, 2021

34885191 (PubMed )
Supplement: cancers-13-06081-s001.zip › Table_S3_Targeted_panel_sequencing_result_of_sinonasal_tumor_cohort.pdf

Aberrant muscular hyperplasia of the hand and PIK3CA related overgrowth spectrum disorders. A case series study.

Delgado-Miguel C et al.

Cirugia Pediatrica : Organo Oficial De La Sociedad Espanola De Cirugia Pediatrica, 2021

Characterization of Clonal Evolution in Microsatellite Unstable Metastatic Cancers through Multiregional Tumor Sequencing.

Bonneville R et al.

Molecular Cancer Research : Mcr, 2021

Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.

Sivapiragasam A et al.

Cancer Medicine, 2021

33314633 (PubMed )
Supplement: CAM4-10-53-s002.xlsx › Sheet1

Precision Oncology in Metastatic Uterine Cancer; Croatian First-Year Experience of the Comprehensive Genomic Profiling in Everyday Clinical Practice.

Čerina D et al.

Pathology Oncology Research : Por, 2021

34646088 (PubMed )
Supplement: DataSheet3.xlsx › Sheet1

Somatic Variant Analysis Identifies Targets for Tailored Therapies in Patients with Vascular Malformations.

Paolacci S et al.

Journal of Clinical Medicine, 2020

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

Pik3ca mutations significantly enhance the growth of SHH medulloblastoma and lead to metastatic tumour growth in a novel mouse model.

Niesen J et al.

Cancer Letters, 2020

The mutational landscape of normal human endometrial epithelium.

Moore L et al.

Nature, 2020

Stage IV Colorectal Cancer Patients with High Risk Mutation Profiles Survived 16 Months Longer with Individualized Therapies.

Hendricks A et al.

Cancers, 2020

32046290 (PubMed )
Supplement: cancers-12-00393-s001.zip › cancers-698395-2.revision.supplementary_materials › SuppTables_S1-S7_.xlsx › S6_German_patients_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

High Proportion of Potential Candidates for Immunotherapy in a Chilean Cohort of Gastric Cancer Patients: Results of the FORCE1 Study.

Cordova-Delgado M et al.

Cancers, 2019

Prevalence of recurrent oncogenic fusion in mismatch repair-deficient colorectal carcinoma with hypermethylated MLH1 and wild-type BRAF and KRAS.

Wang J et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2019

Class I Phosphoinositide 3-Kinase PIK3CA/p110α and PIK3CB/p110β Isoforms in Endometrial Cancer.

Mazloumi Gavgani F et al.

International Journal of Molecular Sciences, 2018

SMAD4 and NF1 mutations as potential biomarkers for poor prognosis to cetuximab-based therapy in Chinese metastatic colorectal cancer patients.

Mei Z et al.

Bmc Cancer, 2018

29703253 (PubMed )
Supplement: 12885_2018_4298_MOESM2_ESM.xlsx › Sheet1

Rapid, ultra low coverage copy number profiling of cell-free DNA as a precision oncology screening strategy.

Hovelson DH et al.

Oncotarget, 2017

29163793 (PubMed )
Supplement: oncotarget-08-89848-s005.xlsx › TableS4

Molecular Diagnosis of Mosaic Overgrowth Syndromes Using a Custom-Designed Next-Generation Sequencing Panel.

Chang F et al.

The Journal of Molecular Diagnostics : Jmd, 2017

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

Li X et al.

Cancer Research, 2016

Comprehensive molecular characterization of gastric adenocarcinoma.

Unknown Author

Nature, 2014

Predicting the functional impact of protein mutations: application to cancer genomics.

Reva B et al.

Nucleic Acids Research, 2011

21727090 (PubMed )
Supplement: supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls › Sheet1

High frequency of PIK3R1 and PIK3R2 mutations in endometrial cancer elucidates a novel mechanism for regulation of PTEN protein stability.

Cheung LW et al.

Cancer Discovery, 2011

The structural impact of cancer-associated missense mutations in oncogenes and tumor suppressors.

Stehr H et al.

Molecular Cancer, 2011

21575214 (PubMed )
Supplement: 1476-4598-10-54-S3.XLS › mutations.txt

Structural effects of oncogenic PI3Kα mutations.

Gabelli SB et al.

Current Topics in Microbiology and Immunology, 2010

PIK3CA mutations in human solid tumors: role in sensitivity to various therapeutic approaches.

Ligresti G et al.

Cell Cycle (georgetown, Tex.), 2009

Oncogenic signaling of class I PI3K isoforms.

Denley A et al.

Oncogene, 2008

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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."