Novel mutations of PIK3CA gene in head and neck squamous cell carcinoma

Cancer Biomarkers : Section a of Disease Markers
Ali M Al-AmriAmein Al Ali

Abstract

HNSCC 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. The 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. Histopathologically 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. Sixty 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. PIK3CA gene plays a crucial role in carcinogenesis in gen...Continue Reading

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Citations

Jan 7, 2017·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Jennifer L Hunt
Nov 22, 2018·BMC Medical Genetics·Shahanas ChathothAmein Al Ali
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Mar 7, 2021·Critical Reviews in Oncology/hematology·Adriana Castelo de MouraEliete Neves Silva Guerra

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