Novel mutations of PIK3CA gene in head and neck squamous cell carcinoma
Autor: | Abir H Alsaid, Ali M. Al-Amri, Rudaynah Al Ali, Yehia S. Mohamed, Cyril Cyrus, Tariq Mohammad Hashim, Shahanas Chathoth, Chittibabu Vatte, Amein Al Ali |
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Rok vydání: | 2016 |
Předmět: |
Adult
Male 0301 basic medicine Silent mutation Cancer Research Adolescent Genotype Carcinogenesis Class I Phosphatidylinositol 3-Kinases Saudi Arabia Biology medicine.disease_cause Phosphatidylinositol 3-Kinases Young Adult 03 medical and health sciences Exon 0302 clinical medicine Gene Frequency Genetics medicine Humans Missense mutation PTEN Genetic Predisposition to Disease neoplasms Aged Aged 80 and over Mutation Squamous Cell Carcinoma of Head and Neck PTEN Phosphohydrolase Cancer General Medicine Middle Aged medicine.disease Head and neck squamous-cell carcinoma stomatognathic diseases 030104 developmental biology Oncology Head and Neck Neoplasms 030220 oncology & carcinogenesis Carcinoma Squamous Cell Cancer research biology.protein Female Signal Transduction |
Zdroj: | Cancer Biomarkers. 16:377-383 |
ISSN: | 1875-8592 1574-0153 |
Popis: | BACKGROUND 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. OBJECTIVE 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. METHODS 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. RESULTS 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. CONCLUSION PIK3CA 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. |
Databáze: | OpenAIRE |
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