Prevalence of<i>PIK3CA</i>mutations and the SNP rs17849079 in Arab breast cancer patients

Karakas, Bedri; Çolak, Dilek; Kaya, Namik; Ghebeh, Hazem; Al-Qasem, Abeer J.; Hendrayani, Fawziah; Toulimat, Mohamed; Al‐Tweigeri, Taher; Park, Ben Ho; Aboussekhra, Abdelilah

doi:10.4161/cbt.25945

Cited by 21 publications

(17 citation statements)

References 43 publications

(44 reference statements)

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“…On the other hand, a high prevalence of this SNP has been reported in Arab breast cancer patients when compared with their counterpart, disease‐free individuals. This SNP‐bearing PIK3CA mRNA location of wild‐type site has been shown to be important for binding of a microRNA (miRNA), hsa‐miR‐4324, suggesting that miRNA‐mediated regulation of PIK3CA is likely affected by the SNP (Karakas et al , ). The SNP rs1045487 in CASP8 gene has previously been reported in breast cancer patients with no significant association (Shephard et al , ).…”

Section: Discussionmentioning

confidence: 99%

Absence of the frequently reported PIK3CA,CASP8, and NOTCH1 mutations in South Indian oral cancers

et al. 2017

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Section: Discussionmentioning

confidence: 99%

Absence of the frequently reported PIK3CA,CASP8, and NOTCH1 mutations in South Indian oral cancers

et al. 2017

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“…Genetic variations of the inositol phosphate metabolism pathway proteins could correlate with cancer predisposition. Although numerous studies have already investigated the role of related SNPs in cancer, the coverage of genes was limited and the sample sizes were relatively small 15 16 17 18 19 20 21 . Therefore, we evaluated associations between inositol phosphate metabolism genes and the risk of eight different types of cancer (lung cancer, bladder cancer, esophageal squamous cell carcinoma (ESCC), gastric cancer (GC), prostate cancer, breast cancer, renal cell carcinoma (RCC) and pancreatic cancer), using a comprehensive pathway-based analysis of the first phase of GWAS available in dbGAP database( www.ncbi.nlm.nih.gov/gap ).…”

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confidence: 99%

Genetic variants in the inositol phosphate metabolism pathway and risk of different types of cancer

Tan

Wang

et al. 2015

Sci Rep

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Members of the inositol phosphate metabolism pathway regulate cell proliferation, migration and phosphatidylinositol-3-kinase (PI3K)/Akt signaling, and are frequently dysregulated in cancer. Whether germline genetic variants in inositol phosphate metabolism pathway are associated with cancer risk remains to be clarified. We examined the association between inositol phosphate metabolism pathway genes and risk of eight types of cancer using data from genome-wide association studies. Logistic regression models were applied to evaluate SNP-level associations. Gene- and pathway-based associations were tested using the permutation-based adaptive rank-truncated product method. The overall inositol phosphate metabolism pathway was significantly associated with risk of lung cancer (P = 2.00 × 10−4), esophageal squamous cell carcinoma (P = 5.70 × 10−3), gastric cancer (P = 3.03 × 10−2) and renal cell carcinoma (P = 1.26 × 10−2), but not with pancreatic cancer (P = 1.40 × 10−1), breast cancer (P = 3.03 × 10−1), prostate cancer (P = 4.51 × 10−1), and bladder cancer (P = 6.30 × 10−1). Our results provide a link between inherited variation in the overall inositol phosphate metabolism pathway and several individual genes and cancer. Further studies will be needed to validate these positive findings, and to explore its mechanisms.

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“…Karakas et al showed the importance of PIK3CA mutation and polymorphism in susceptibility to breast cancer incidence. 43 In another study, Mir et al investigated the PIK3CA rs7640662 polymorphism association with breast cancer in a Persian population with 278 breast cancer patients and 128 healthy women. Mir et al did not observe any significant association between the rs7640662 and breast cancer incidence (P > 0.05).…”

Section: Discussionmentioning

confidence: 99%

Association Between the PIK3CA Ile391Met Polymorphism and the Risk of Breast Cancer in an Iranian Population

Ahmadi

Ramezani

Ghafouri

et al. 2018

jabr

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Introduction: Breast cancer, as a multifactorial disease is the most frequent cancer among women and second most commonly diagnosed cancer in worldwide. Breast cancer is associated with mutations in several genes such as PIK3CA. Phosphoinositide 3 kinase (PI3K) is an important group of lipid kinases that regulate the vital cellular functions such as survival, proliferation, cell growth, motility, differentiation, and intracellular trafficking. The aim of this study is to evaluate the association of rs2230461 of PIK3CA gene with the incidence of breast cancer. Materials and Methods: A total of 198 healthy donors and 205 breast cancer patients were recruited. Genomic DNA was extracted from peripheral blood leukocytes by Triton X100 technique. Genotyping was performed using RFLP-PCR protocol. Chi-square test, odds ratios (ORs) and 95% CIs were used to determine associations. Results: There were no significant differences observed regarding the PIK3CA genotype frequencies at codon 391 between patient and control groups (P = 0.17). However, by comparing stage III breast cancer patients and control groups, there was a significantly higher frequency of the GG genotype among stage III cases compared to control (P = 0.01). Although the PIK3CA I391M polymorphism has been located in the C2 domain and doesn't involve in the binding site, it can affect the protein function. Conclusions: Since even those mutations that are far from the binding site can affect the protein function and change its dynamic behavior through allosteric impacts and lead to tumorigenesis at last. Since PIK3CA mutations mainly appear late in tumorigenesis, exactly before or coincident with invasion, and may be involved in tumor formation, it is suggested that this polymorphism may be involved in breast cancer invasion.

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Prevalence ofPIK3CAmutations and the SNP rs17849079 in Arab breast cancer patients

Cited by 21 publications

References 43 publications

Absence of the frequently reported PIK3CA,CASP8, and NOTCH1 mutations in South Indian oral cancers

Absence of the frequently reported PIK3CA,CASP8, and NOTCH1 mutations in South Indian oral cancers

Genetic variants in the inositol phosphate metabolism pathway and risk of different types of cancer

Association Between the PIK3CA Ile391Met Polymorphism and the Risk of Breast Cancer in an Iranian Population

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