Varaico: Literature-Extracted Genetic Variants

Gene:PIK3CA
Variant:p.S553fs
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PIK3CA

NM_006218.4:p.S553fs

Associated Papers

PIK3CA-Related Phenotypes due to Germline and Somatic Mosaic Variants: A two-Case Report.

Acikgoz NB et al.

Molecular Syndromology, 2025

BRCA1, BRCA2, TP53, PIK3CA, PTEN and AKT1 genes mutations in Burkina Faso breast cancer patients: prevalence, spectrum and novel variant.

Ouedraogo SY et al.

Molecular Genetics and Genomics : Mgg, 2022

Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay.

Zollino M et al.

Molecular Genetics & Genomic Medicine, 2019

Somatic alterations of targetable oncogenes are frequently observed in BRCA1/2 mutation negative male breast cancers.

Rizzolo P et al.

Oncotarget, 2016

Molecular spectrum of PIK3CA gene mutations in patients with nonsmall-cell lung cancer in Turkey.

Ekinci S et al.

Genetic Testing and Molecular Biomarkers, 2015

Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes.

Orloff MS et al.

American Journal of Human Genetics, 2013

Identification of molecular pathway aberrations in uterine serous carcinoma by genome-wide analyses.

Kuhn E et al.

Journal of the National Cancer Institute, 2012

Germline and Somatic mutations in postmenopausal breast cancer patients.

Nagy TR et al.

Clinics (sao Paulo, Brazil), 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."