Varaico: Literature-Extracted Genetic Variants

Gene:PIK3CA
Variant:p.M1004I
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PIK3CA

NM_006218.4:p.M1004I

Associated Papers

Pan-cancer inference and validation of hypermorphic, hypomorphic and neomorphic mutations.

Tagore S et al.

Nature Genetics, 2026

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

Rossi S et al.

Biomedicines, 2026

Integrating ctDNA Dynamics and Sequential Organoid Drug Screening Enhances Breast Cancer Treatment Efficacy.

Liu J et al.

Cancer Research, 2026

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

Clinical, genomic, and histopathologic diversity in cerebral cavernous malformations.

Ren J et al.

Acta Neuropathologica Communications, 2025

Recapitulating the adenoma-carcinoma sequence by selection of four spontaneous oncogenic mutations in mismatch-repair-deficient human colon organoids.

Mizutani T et al.

Nature Cancer, 2024

39487295 (PubMed )
Supplement: 43018_2024_841_MOESM8_ESM.xlsx › Fig.4e

Exploring Genomic Biomarkers for Pembrolizumab Response: A Real-World Approach and Patient Similarity Network Analysis Reveal DNA Response and Repair Gene Mutations as a Signature.

Filetti M et al.

Cancers, 2024

39682144 (PubMed )
Supplement: cancers-16-03955-s001.zip › Table_S4.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

Activating Point Mutations in the MET Kinase Domain Represent a Unique Molecular Subset of Lung Cancer and Other Malignancies Targetable with MET Inhibitors.

Pecci F et al.

Cancer Discovery, 2024

38564707 (PubMed )
Supplement: cd-23-1217_supplementary_table_18_suppst18.xlsx › Sheet1

Unravelling the role of PLK1 in tumorigenesis by revealing the mutational landscape of colorectal and lung cancer with PLK1 mutations.

Wang S et al.

Journal of Cellular and Molecular Medicine, 2024

38887977 (PubMed )
Supplement: JCMM-28-e18497-s002.xlsx › Sheet1

Alpelisib for PIK3CA-mutated advanced gynecological cancers: First clues of clinical activity.

Passarelli A et al.

Gynecologic Oncology, 2024

ER+, HER2- advanced breast cancer treated with taselisib and fulvestrant: genomic landscape and associated clinical outcomes.

Chen JW et al.

Molecular Oncology, 2023

36892268 (PubMed )
Supplement: MOL2-17-2000-s008.pdf

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

Protein Tyrosine Phosphatase Non-Receptor 11 (PTPN11/Shp2) as a Driver Oncogene and a Novel Therapeutic Target in Non-Small Cell Lung Cancer (NSCLC).

Richards CE et al.

International Journal of Molecular Sciences, 2023

37445722 (PubMed )
Supplement: ijms-24-10545-s001.zip › PTPN11_paper_supplementary_tables_25042023.pdf

Systematic Pan-cancer Functional Inference and Validation of Hyper, Hypo and Neomorphic Mutations.

Tagore S et al.

Biorxiv : the Preprint Server for Biology, 2023

Multiple PIK3CA mutation clonality correlates with outcomes in taselisib + fulvestrant-treated ER+/HER2-, PIK3CA-mutated breast cancers.

Hutchinson KE et al.

Genome Medicine, 2023

37101291 (PubMed )
Supplement: 13073_2023_1181_MOESM1_ESM.pdf

Biology and Targetability of the Extended Spectrum of PIK3CA Mutations Detected in Breast Carcinoma.

Rugo HS et al.

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

Profiling PIK3CA variants in disorders of somatic mosaicism.

Mojarad BA et al.

Genetics in Medicine Open, 2023

Somatic mutation distribution across tumour cohorts provides a signal for positive selection in cancer.

Boström M et al.

Nature Communications, 2022

36396655 (PubMed )
Supplement: 41467_2022_34746_MOESM10_ESM.xlsx › Supplementary_Data_7

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

A lung adenocarcinoma patient with ROS1 fusion and NBN germline mutation achieves long progression-free survival from sintilimab combined with niraparib after failure of ROS1 inhibitors: a case report.

Xu F et al.

Annals of Translational Medicine, 2022

Molecular landscape of TP53 mutations in breast cancer and their utility for predicting the response to HER-targeted therapy in HER2 amplification-positive and HER2 mutation-positive amplification-negative patients.

Liu B et al.

Cancer Medicine, 2022

35393784 (PubMed )
Supplement: CAM4-11-2767-s001.xlsx › Table_S2

Characteristics of and Treatment Strategies for Advanced EGFR-Mutant NSCLC With Concomitant BRAF Variations.

Wei XW et al.

Jto Clinical and Research Reports, 2022

35789792 (PubMed )
Supplement: mmc3.xlsx › Supplementary_Table_7

High prevalence of somatic PIK3CA and TP53 pathogenic variants in the normal mammary gland tissue of sporadic breast cancer patients revealed by duplex sequencing.

Kostecka A et al.

Npj Breast Cancer, 2022

35768433 (PubMed )
Supplement: 41523_2022_443_MOESM9_ESM.xlsx › DuplexSeq_all

Clinically actionable cancer somatic variants (CACSV): a tumor interpreted dataset for analytical workflows.

Sobahy TM et al.

Bmc Medical Genomics, 2022

35468810 (PubMed )
Supplement: 12920_2022_1235_MOESM2_ESM.xlsx › Sheet1

Genomic landscape of lung cancer in the young.

Ruiz R et al.

Frontiers in Oncology, 2022

36263208 (PubMed )
Supplement: DataSheet_2.pdf

Patterns of Whole Exome Sequencing in Resected Cholangiocarcinoma.

Thornblade LW et al.

Cancers, 2021

Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.

Romero-Cordoba SL et al.

Nature Communications, 2021

33854067 (PubMed )
Supplement: 41467_2021_22478_MOESM9_ESM.xlsx › Driver_mutation_in_HM

Case report: 16-yr life history and genomic evolution of an ER+ HER2- breast cancer.

Xu B et al.

Cold Spring Harbor Molecular Case Studies, 2020

33008833 (PubMed )
Supplement: supp_mcs.a005629_Supplemental_Files_1-5.pdf

Biomarkers in Breast Cancer: An Integrated Analysis of Comprehensive Genomic Profiling and PD-L1 Immunohistochemistry Biomarkers in 312 Patients with Breast Cancer.

Huang RSP et al.

The Oncologist, 2020

Metabolic Fingerprinting Links Oncogenic PIK3CA with Enhanced Arachidonic Acid-Derived Eicosanoids.

Koundouros N et al.

Cell, 2020

32559461 (PubMed )
Supplement: mmc5.xlsx › Table_S5

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

PIK3CA variants selectively initiate brain hyperactivity during gliomagenesis.

Yu K et al.

Nature, 2020

Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Dong X et al.

Communications Biology, 2020

31925297 (PubMed )
Supplement: 42003_2019_736_MOESM10_ESM.xlsx › Sheet1

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

Molecular landscape and efficacy of HER2-targeted therapy in patients with HER2-mutated metastatic breast cancer.

Yi Z et al.

Npj Breast Cancer, 2020

33145402 (PubMed )
Supplement: 41523_2020_201_MOESM2_ESM.xlsx › Supplementary_Table_1

Recurrent PTPRT/JAK2 mutations in lung adenocarcinoma among African Americans.

Mitchell KA et al.

Nature Communications, 2019

31844068 (PubMed )
Supplement: 41467_2019_13732_MOESM8_ESM.xlsx › Sheet1

Distinct genetic alterations and luminal molecular subtype in nested variant of urothelial carcinoma.

Weyerer V et al.

Histopathology, 2019

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM2_ESM.xlsx › S2

New Challenges in Tumor Mutation Heterogeneity in Advanced Ovarian Cancer by a Targeted Next-Generation Sequencing (NGS) Approach.

Garziera M et al.

Cells, 2019

Multi-region sequencing unveils novel actionable targets and spatial heterogeneity in esophageal squamous cell carcinoma.

Yan T et al.

Nature Communications, 2019

30975989 (PubMed )
Supplement: 41467_2019_9255_MOESM4_ESM.xlsx › Supplementary_Data_2a

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

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
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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."