Association of PIK3CA gene mutations with head and neck squamous cell carcinomas

Kommineni, Nagavendra; Jamil, Kaiser; Pingali, Usharani; Addala, Lakshmi; Naidu, M. Prasad

doi:10.4149/neo_2015_009

Cited by 12 publications

(12 citation statements)

References 35 publications

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“…It would also be worth to evaluate these agents specifically in a poor prognostic context and in an enriched population with PIK3CA mutations and/or overexpression. The correlation we observed between PIK3CA overexpression and clinicopathological and biological characteristics has previously been reported [13, 14]. …”

Section: Discussionsupporting

confidence: 83%

Identification of new candidate therapeutic target genes in head and neck squamous cell carcinomas

et al. 2016

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BackgroundWe aimed at identifying druggable molecular alterations at the RNA level from untreated HNSCC patients, and assessing their prognostic significance.MethodsWe retrieved 96 HNSCC patients who underwent primary surgery. Real-time quantitative RT-PCR was used to analyze a panel of 42 genes coding for major druggable proteins. Univariate and multivariate analyses were performed to assess the prognostic significance of overexpressed genes.ResultsMedian age was 56 years [35–78]. Most of patients were men (80%) with a history of alcohol (70.4%) and/or tobacco consumption (72.5%). Twelve patients (12%) were HPV-positive. Most significantly overexpressed genes involved cell cycle regulation (CCND1 [27%], CDK6 [21%]), tyrosine kinase receptors (MET [18%], EGFR [14%]), angiogenesis (PGF [301%], VEGFA [14%]), and immune system (PDL1/CD274 [28%]). PIK3CA expression was an independent prognostic marker, associated with shorter disease-free survival.ConclusionsWe identified druggable overexpressed genes associated with a poor outcome that might be of interest for personalizing treatment of HNSCC patients.

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Section: Discussionsupporting

confidence: 83%

Identification of new candidate therapeutic target genes in head and neck squamous cell carcinomas

et al. 2016

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“…Among all mutations, we highlighted the mutual exclusivity pattern found between the TP53 and PIK3CA mutations. PIK3CA mutations have been associated with tobacco and alcohol consumption in previous studies [39]. Maybe, HPV status can explain this mutually exclusive mutations based on HPV status, as p53 mutations are very rare in HPV (+) cancers, while PIK3CA mutations are common, at least in a genetically well-defined subgroup of HPV (+) cancers [40].…”

Section: Discussionmentioning

confidence: 99%

Comprehensive Genomic Review of TCGA Head and Neck Squamous Cell Carcinomas (HNSCC)

Pérez‐Sayáns

Chamorro-Petronacci

Lorenzo-Pouso

et al. 2019

JCM

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The aim of this present study was to comprehensively describe somatic DNA alterations and transcriptional alterations in the last extension of the HNSCC subsets in TCGA, encompassing a total of 528 tumours. In order to achieve this goal, transcriptional analysis, functional enrichment assays, survival analysis, somatic copy number alteration analysis and somatic alteration analysis were carried out. A total of 3491 deregulated genes were found in HNSCC patients, and the functional analysis carried out determined that tissue development and cell differentiation were the most relevant signalling pathways in upregulated and downregulated genes, respectively. Somatic copy number alteration analysis showed a “top five” altered HNSCC genes: CDKN2A (deleted in 32.03% of patients), CDKN2B (deleted in 28.34% of patients), PPFIA1 (amplified in 26.02% of patients), FADD (amplified in 25.63% of patients) and ANO1 (amplified in 25.44% of patients). Somatic mutations analysis revealed TP53 mutation in 72% of the tumour samples followed by TTN (39%), FAT1 (23%) and MUC16 (19%). Another interesting result is the mutual exclusivity pattern that was discovered between the TP53 and PIK3CA mutations, and the co-occurrence of CDKN2A with the TP53 and FAT1 alterations. On analysis to relate differential expression genes and somatic copy number alterations, some genes were overexpressed and amplified, for example, FOXL2, but other deleted genes also showed overexpression, such as CDKN2A. Survival analysis revealed that overexpression of some oncogenes, such as EGFR, CDK6 or CDK4 were associated with poorer prognosis tumours. These new findings help us to develop new therapies and programs for the prevention of HNSCC.

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“…He et al found genotype CC in locus PIK3CA rs7646409 may increase the risk of osteosarcoma in the Chinese population [ 24 ]. Kommineni et al reported 60.46% of head and neck squamous cell carcinoma (HNSCC) patients and 26% of controls with the following mutations 1634A>C (E545A) and 3075C>T (T1025T) in the helical and kinase domains of PIK3CA [ 25 ]. In the present study, we found a microRNA binding site polymorphism rs141178472 in the PIK3CA 3′-UTR is associated with the expression and risk of colorectal cancer.…”

Section: Discussionmentioning

confidence: 99%

A Functional Variant at miR-520a Binding Site in PIK3CA Alters Susceptibility to Colorectal Cancer in a Chinese Han Population

Ding

Zao

Chen

et al. 2015

BioMed Research International

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An increasing body of evidence has indicated that polymorphisms in the miRNA binding site of target gene can alter the ability of miRNAs to bind their target genes and modulate the risk of cancer. We aimed to investigate the association between a miR-520a binding site polymorphism rs141178472 in the PIK3CA 3′-UTR and the risk of colorectal cancer (CRC) in a Chinese Han population. The polymorphism rs141178472 was analyzed in a case-control study, including 386 CRC patients and 394 age- and sex-matched controls; the relationship between the polymorphism and the risk of colorectal cancer was examined. Individuals carrying the rs141178472 CC genotype or C allele had an increased risk of developing CRC (CC versus TT, OR (95% CI): 1.716 (1.084–2.716), P = 0.022; C versus T, OR (95% CI): 1.258 (1.021–1.551), P = 0.033). Furthermore, the expression of PIK3CA was detected in the peripheral blood mononucleated cell of CRC patients, suggesting that mRNA levels of PIK3CA might be associated with SNP rs141178472. These findings provide evidence that a miR-520a binding site polymorphism rs141178472 in the PIK3CA 3′-UTR may play a role in the etiology of CRC.

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Association of PIK3CA gene mutations with head and neck squamous cell carcinomas

Cited by 12 publications

References 35 publications

Identification of new candidate therapeutic target genes in head and neck squamous cell carcinomas

Identification of new candidate therapeutic target genes in head and neck squamous cell carcinomas

Comprehensive Genomic Review of TCGA Head and Neck Squamous Cell Carcinomas (HNSCC)

A Functional Variant at miR-520a Binding Site in PIK3CA Alters Susceptibility to Colorectal Cancer in a Chinese Han Population

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