ArticleCancer biomarkers : section A of Disease markers2016
Novel mutations of PIK3CA gene in head and neck squamous cell carcinoma.
Article in Cancer biomarkers : section A of Disease markers, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 10 citations in OpenAlex.
- Understanding PI3K/Akt/mTOR signaling in squamous cell carcinoma: mutated PIK3CA as an example.Molecular biomedicine · 2024Review
- Novel Method for Detection of PIK3CA Mutations in Circulating Tumor DNA of Patients with Colorectal Cancer.Applied biochemistry and biotechnology · 2023Article
- Current concepts in ameloblastoma-targeted therapies in B-raf proto-oncogene serine/threonine kinase V600E mutation: Systematic review.World journal of clinical oncology · 2020Article
- Helical and kinase domain mutations ofOncology letters · 2019Article
- Association of epidermal growth factor receptor protein expression with histopathological and clinical parameters in carcinoma of the larynx.Translational cancer research · 2019Article
- Association of Uncoupling Protein 1 (UCP1) gene polymorphism with obesity: a case-control study.BMC medical genetics · 2018Article
- Applications of molecular testing in surgical pathology of the head and neck.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2017Review
- Tyrosine kinase domain mutations ofOncoTargets and therapy · 2017Article
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundHNSCC is the sixth most common human cancer globally. In Saudi Arabia, HNSCC accounts for seven percent of all newly diagnosed cancer cases. The PIK3CA is one of the most commonly mutated oncogene in human malignancies, including HNSCC.
objectiveThe objective of this study is to identify mutations in exon 9 and exon 20 of the PIK3CA gene among Saudi HNSCC patients, determine the frequency of these mutations and correlate with clinical and pathological findings.
methodsHistopathologically confirmed paraffin embedded HNSCC tumor tissues from 48 patients were obtained. Capillary sequencing method was used to sequence exons 9 and 20 of the PIK3CA gene. Concurrently, the expression analysis of the PIK3CA and PTEN genes were performed using real-time PCR.
resultsSixty percent of the samples studied were of pharyngeal cancer. A total of seven mutations were identified in exons 9 and 20 of the PIK3CA gene in 14 HNSCC tumor tissue specimens. The seven mutations encompassed one hot spot mutation E542K, a common mutation T1025T and the five novel mutation comprising three missense and two silent mutations. Interestingly, eight out of the 14 samples with a mutation were of patients with pharyngeal cancer.
conclusionPIK3CA gene plays a crucial role in carcinogenesis in general and HNSCC in particular. The identification of five novel mutations suggest that Saudis may have different frequencies of somatic genetic alterations that may influence HNSCC compared to other populations.
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