Varaico: Literature-Extracted Genetic Variants

Gene:PIK3CA
Variant:p.W328_I330del3
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PIK3CA

NM_006218.4:p.W328_I330del3

Associated Papers

Towards Personalized Precision Oncology: A Feasibility Study of NGS-Based Variant Analysis of FFPE CRC Samples in a Chilean Public Health System Laboratory.

Durán-Jara E et al.

Current Issues in Molecular Biology, 2025

Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.

Meintani A et al.

International Journal of Molecular Sciences, 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

Decoding the molecular landscape: HER2 and PD-L1 in advanced gastric cancer.

Yao J et al.

Frontiers in Immunology, 2025

40519936 (PubMed )
Supplement: Table1.xlsx › SNV

Diagnostic Challenges due to a Germline Missense MSH2 Variant in a Patient With Immunotherapy-Responsive Locally Advanced Rectal Adenocarcinoma.

Evaristo G et al.

Cancer Reports (hoboken, N.j.), 2024

Clinical and molecular predictors of very late recurrence in oestrogen receptor-positive breast cancer patients.

Richman J et al.

Breast Cancer Research and Treatment, 2024

38709373 (PubMed )
Supplement: 10549_2024_7311_MOESM2_ESM.xlsx › Suppl_Table_5

PIK3CA mutations in endocrine-resistant breast cancer.

Schagerholm C et al.

Scientific Reports, 2024

38822093 (PubMed )
Supplement: 41598_2024_62664_MOESM1_ESM.pdf

Identification of potentially actionable genetic variants in epithelial ovarian cancer: a retrospective cohort study.

Fieuws C et al.

Npj Precision Oncology, 2024

38519644 (PubMed )
Supplement: 41698_2024_565_MOESM1_ESM.pdf

Identification of Potential Genomic Alterations Using Pan-Cancer Cell-Free DNA Next-Generation Sequencing in Patients With Gastric Cancer.

Kim B et al.

Annals of Laboratory Medicine, 2024

37903652 (PubMed )
Supplement: alm-44-2-164-supple1.xlsx › Assay_B

Improving genetic diagnostic yield in a large cohort of children with rare vascular anomalies or PIK3CA-related overgrowth spectrum.

Green TE et al.

Genetics in Medicine Open, 2024

Cribriform Morular Thyroid Carcinoma - Ultimobranchial Pouch-Related? Deep Molecular Insights of a Unique Case.

Dettmer MS et al.

Endocrine Pathology, 2023

Comprehensive clinicopathological and genomic profiling of gallbladder cancer reveals actionable targets in half of patients.

de Bitter TJJ et al.

Npj Precision Oncology, 2022

36335173 (PubMed )
Supplement: 41698_2022_327_MOESM2_ESM.xlsx › Supplementary_Data_3

Activating PIK3CA postzygotic mutations in segmental overgrowth of muscles with bone involvement in the body extremities.

Tian W et al.

Molecular Genetics and Genomics : Mgg, 2022

Alpelisib administration reduced lymphatic malformations in a mouse model and in patients.

Delestre F et al.

Science Translational Medicine, 2021

Case report: identification of ERC1-RET fusion in a patient with pancreatic ductal adenocarcinoma.

Ma J et al.

Gland Surgery, 2021

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

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

Heterogeneity of resistance mutations detectable by nextgeneration sequencing in TKI-treated lung adenocarcinoma.

Belchis DA et al.

Oncotarget, 2016

27304188 (PubMed )
Supplement: oncotarget-07-45237-s001.pdf

Performance characteristics of next-generation sequencing in clinical mutation detection of colorectal cancers.

Haley L et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2015

PIK3R1 underexpression is an independent prognostic marker in breast cancer.

Cizkova M et al.

Bmc Cancer, 2013

PIK3CA Mutational Analysis in Patients With Macrodactyly.

Becker J et al.

Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0

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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."