Varaico: Literature-Extracted Genetic Variants

Gene:PIK3CA
Variant:p.A1035V
Back to variants list

PIK3CA

NM_006218.4:p.A1035V

Associated Papers

Clinicopathologic and molecular characterization of uterine and ovarian mixed yolk sac tumor and carcinoma/carcinosarcoma: implications for somatic derivation and therapeutics.

Zhao J et al.

Virchows Archiv : an International Journal of Pathology, 2026

Age-Related Multigene Analysis of Colorectal Cancer Using Next-Generation Sequencing.

Kozlowska-Geller M et al.

Cancers, 2025

41463160 (PubMed )
Supplement: cancers-17-03909-s001.zip › cancers-3953905-supplementary.pdf

ctDNA detectability and representativeness in seven body liquids from patients with metastatic breast cancer.

Richard F et al.

Nature Communications, 2025

41330890 (PubMed )
Supplement: 41467_2025_65838_MOESM26_ESM.xlsx › SD22b_mutationalData

Genetic evolution of keratinocytes to cutaneous squamous cell carcinoma.

Tandukar B et al.

Nature Communications, 2025

41309580 (PubMed )
Supplement: 41467_2025_65687_MOESM1_ESM.pdf

Clinical Application of Next-Generation Sequencing for Molecular Classification in the Management of Endometrial Cancer: An Observational Cohort Study.

Paratore S et al.

Cancers, 2025

Variants of Uncertain Significance in Vascular Anomalies: The Role of Reclassification.

Blatt J et al.

Pediatric Blood & Cancer, 2025

Genomic Profiling of Cardiac Angiosarcoma Reveals Novel Targetable KDR Variants, Recurrent MED12 Mutations, and a High Burden of Germline POT1 Alterations.

Odintsov I et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

39820259 (PubMed )
Supplement: ccr-24-3277_supplementary_table_s1_suppts1.xlsx › SNV_INDEL

Genetic evolution of keratinocytes to cutaneous squamous cell carcinoma.

Tandukar B et al.

Biorxiv : the Preprint Server for Biology, 2024

39091884 (PubMed )
Supplement: media-6.xlsx › Data_Points

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

Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approach.

de Kock L et al.

American Journal of Medical Genetics. Part A, 2024

Targeted next-generation sequencing for detection of PIK3CA mutations in archival tissues from patients with Klippel-Trenaunay syndrome in an Asian population : List the full names and institutional addresses for all authors.

Sasaki Y et al.

Orphanet Journal of Rare Diseases, 2023

Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria.

Akula SK et al.

Jama Neurology, 2023

37486637 (PubMed )
Supplement: jamaneurol-e232363-s002.xlsx › All_-_AlphaGene

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

Genomic Progression of Precancerous Actinic Keratosis to Squamous Cell Carcinoma.

Kim YS et al.

The Journal of Investigative Dermatology, 2022

Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

G V et al.

Frontiers in Genetics, 2022

36561320 (PubMed )
Supplement: Table3.xlsx › Sheet1

A Genome-Wide Profiling of Glioma Patients with an IDH1 Mutation Using the Catalogue of Somatic Mutations in Cancer Database.

Pappula AL et al.

Cancers, 2021

34503108 (PubMed )
Supplement: cancers-13-04299-s001.zip › Supplemental_Tables_final.xlsx › Table_S10

Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing.

Hiraide T et al.

Clinical Genetics, 2021

Identification of Circulating Genomic and Metabolic Biomarkers in Intrahepatic Cholangiocarcinoma.

Winter H et al.

Cancers, 2019

31795195 (PubMed )
Supplement: cancers-11-01895-s001.zip › ICC_ctDNA_Cancers_Supplementary_Table_5._50_cancer_gene_panel_information.xlsx › cms_106003

Clinicopathological and biological analysis of PIK3CA mutation and amplification in cervical carcinomas.

Razia S et al.

Experimental and Therapeutic Medicine, 2019

Comprehensive evaluation of coding region point mutations in microsatellite-unstable colorectal cancer.

Kondelin J et al.

Embo Molecular Medicine, 2018

30108113 (PubMed )
Supplement: EMMM-10-e8552-s004.xlsx › Sheet1

Genomic alterations at the basis of treatment resistance in metastatic breast cancer: clinical applications.

Toss A et al.

Oncotarget, 2018

Whole-exome sequencing identifies key mutated genes in T790M wildtype/cMET-unamplified lung adenocarcinoma with acquired resistance to first-generation EGFR tyrosine kinase inhibitors.

Li C et al.

Journal of Cancer Research and Clinical Oncology, 2018

Characterization of PIK3CA and PIK3R1 somatic mutations in Chinese breast cancer patients.

Chen L et al.

Nature Communications, 2018

Optimal detection of clinically relevant mutations in colorectal carcinoma: sample pooling overcomes intra-tumoral heterogeneity.

Nelson AC et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2018

Negative hyper-selection of metastatic colorectal cancer patients for anti-EGFR monoclonal antibodies: the PRESSING case-control study.

Cremolini C et al.

Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2017

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing.

Kuentz P et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

EGFR pathway subgroups in Chilean colorectal cancer patients, detected by mutational and expression profiles, associated to different clinicopathological features.

Alvarez K et al.

Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine, 2017

PIK3CA exon9 mutations associate with reduced survival, and are highly concordant between matching primary tumors and metastases in endometrial cancer.

Mjos S et al.

Scientific Reports, 2017

28860563 (PubMed )
Supplement: 41598_2017_10717_MOESM1_ESM.pdf

Impact of somatic PI3K pathway and ERBB family mutations on pathological complete response (pCR) in HER2-positive breast cancer patients who received neoadjuvant HER2-targeted therapies.

Toomey S et al.

Breast Cancer Research : Bcr, 2017

Somatic PIK3CA mutations in seven patients with PIK3CA-related overgrowth spectrum.

Yeung KS et al.

American Journal of Medical Genetics. Part A, 2017

Nephroblastomatosis or Wilms tumor in a fourth patient with a somatic PIK3CA mutation.

Gripp KW et al.

American Journal of Medical Genetics. Part A, 2016

Impact of KRAS, BRAF, PIK3CA, TP53 status and intraindividual mutation heterogeneity on outcome after liver resection for colorectal cancer metastases.

Løes IM et al.

International Journal of Cancer, 2016

26991344 (PubMed )
Supplement: IJC-139-647-s003.xls › Suppl_Tbl_2

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.

Mirzaa G et al.

Jci Insight, 2016

Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of "PIK3CA-Related Overgrowth Spectrum".

Di Donato N et al.

Human Mutation, 2016

PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation.

Keppler-Noreuil KM et al.

American Journal of Medical Genetics. Part A, 2015

Somatic mutations in cerebral cortical malformations.

Jamuar SS et al.

The New England Journal of Medicine, 2014

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.

Rivière JB et al.

Nature Genetics, 2012

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

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

Ligresti G et al.

Cell Cycle (georgetown, Tex.), 2009

Clinicopathological analysis of colorectal cancers with PIK3CA mutations in Middle Eastern population.

Abubaker J et al.

Oncogene, 2008

High frequency of coexistent mutations of PIK3CA and PTEN genes in endometrial carcinoma.

Oda K et al.

Cancer Research, 2005

Histomolecular characterization of intracranial meningiomas developed in patients exposed to high-dose cyproterone acetate: an antiandrogen treatment.

Portet S et al.

Neuro-oncology Advances, 0

32642646 (PubMed )
Supplement: vdz003_suppl_supplementary_table_1.xlsx › Feuil1
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."