Correlation between important genes of mTOR pathway (PI3K and KIT) in Iranian women with sporadic breast cancer

Rahimi, Maryam; Behjat, Farkhondeh; Taheri, Nazanin; Hosseini, Shadi; Khorshid, Hamid Reza Khorram; Moghaddam, Fatemeh Aghakhani; Karimlou, Masoud; Ghasemi, Saghar; Bazazzadegan, Niloofar; Sirati, Fereidoon; Keyhani, Elahe

doi:10.14196/mjiri.32.135

Cited by 6 publications

(4 citation statements)

References 27 publications

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“…Also, CCR5Δ32 is absent in East and Southeast Asia populations, natives of America, Oceania, and sub-Saharan Africa [39]. In Iranian people, the frequency of CCR5Δ32 is estimated at 1.6%, which varies in different ethnicities living in this country [16,17]. By the end of 2021, 38.4 million HIV Infected individuals worldwide have been detected, with the highest frequency observed in South and West Africa (20.6 million infected) and the lowest in the Middle East and North Africa (18,000 infected) [40].…”

Section: Discussionmentioning

confidence: 99%

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Prevalence of CCR5Δ32 genetic variant in the Turkmen population of Golestan province, northeast of Iran

Norasi

Rastegar

Hosseini

et al. 2023

Preprint

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The 32 bp deletion in the chemokine receptor (C-C motif) 5 gene (CCR5Δ32) is a natural loss of function polymorphism that prevents the protein from locating on the cell surface. This genetic variation acts as a double edge sword in the pathogenesis/defense mechanism of different health conditions, such as viral infections, autoimmune diseases, and cancers. Here, we evaluated the prevalence of CCR5Δ32 polymorphism in the Turkmen population of Golestan province, northeast of Iran. Blood samples were collected from 400 randomly selected Turkmen populations (199 women and 201 men), and genomic DNA was extracted. Characterization of CCR5Δ32 genotypes was performed by PCR using primers flanking the 32-nucleotide deletion in the CCR5 gene. The amplified DNA fragments were visualized on 2% agarose gel electrophoresis with cyber green staining under UV light. All individuals were of Turkmen ethnicity and lived in the Golestan province northeast of Iran. The mean age of all participants was 35.46 years, with a 20–45 years range. All the studied subjects were healthy without severe conditions such as autoimmune disease and viral infections. All individuals had no history of HIV infection. The PCR product visualization showed that all the samples were at the 330 bp size, suggesting the absence of the CCR5Δ32 allele in the study population. The presence of the CCR5Δ32 allele among Turkmens may be attributed to the admixture with European descent people. We conclude that the CCR5Δ32 polymorphism may be absent in the Iranian Turkmen population and further studies with large populations are needed.

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Section: Discussionmentioning

confidence: 99%

“…The most abundant CCR5Δ32 allele frequency is observed in the Caucasian population (European descent) (~ 10%), while this allele is nearly absent in Africans, Native Americans, and Asians [13][14][15]. In the Iranian population, the frequency of CCR5Δ32 ranges from 0.0033 to 1.6 due to the diversity of ethnicities in Iran [16,17].…”

Section: Introductionmentioning

confidence: 99%

Prevalence of CCR5Δ32 genetic variant in the Turkmen population of Golestan province, northeast of Iran

Norasi

Rastegar

Hosseini

et al. 2023

Preprint

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“…Although there have been many reports on the use of a single AF as treatment strategy for melanoma, there has been no multigene analysis of angiogenic factors to evaluate the prognosis and AGING melanoma and is related to the regulation of AKT1 E17K in the PI3K/Akt pathway [23,26]. The PI3K/Akt, focal adhesion and MAPK signaling pathways are involved in the regulation of angiogenesis and vascular permeability [24,27]. The PI3K/Akt pathway can induce the expression of vascular endothelial growth factor (VEGF), nitric oxide, angiopoietin and other angiogenic factors.…”

Section: Mutation Patterns and Copy Number Variant (Cnv) Analysesmentioning

confidence: 99%

Construction and validation of a prognostic risk model of angiogenesis factors in skin cutaneous melanoma

Zou

Zhang

et al. 2022

Aging

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Melanoma can secrete tumor angiogenesis factors, which is the essential factor for tumor growth and metastasis. However, there are few reports on the relationship between angiogenesis factors and prognosis risk in melanoma. This study aimed to develop a prognostic risk model of angiogenesis for melanoma. Forty-nine differentially expressed angiogenesis were identified from the TCGA database, which were mainly involved in PI3K/Akt pathway, focal adhesion, and MAPK signaling pathway. We then establish an eleven-gene signature. The model indicated a strong prognostic capability in both the discovery cohort and the validation cohort. Patients of smaller height (<170 cm) and lower weight (<80 kg) and those with advanced-stage and ulcerated melanoma had higher risk scores. The risk score was positively correlated with mutation load, homologous recombination defect, neoantigen load and chromosome instability. In addition, the high-risk group had a higher degree of immune cell infiltration, better response to immunotherapy and lower immune score. Therefore, these results indicate that the risk model is an effective method to predict the prognosis of melanoma.

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“…In inhibiting genes involved in angiogenesis, such as KIT gene, the development, progression, and migration of malignant tumors such as breast cancer can be suppressed. Therefore, this gene may serve as a potential target for cancer therapy (23,24). The purpose of this study was to determine the relationship between KIT expression, CNV and CD34.…”

Section: Introductionmentioning

confidence: 99%

The Relationship between KIT Copy Number Variation, Protein Expression, and Angiogenesis in Sporadic Breast Cancer

et al. 2020

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Background: KIT is a protooncogene that encodes for the KIT oncoprotein, which is a transmembrane tyrosine kinase growth factor receptor that holds a critical role in a variety of normal physiological and pathological processes including angiogenesis. KIT has been shown to be involved in tumorigenesis, contributing to the development of gastrointestinal carcinoma and leukemia. A link between KIT overexpression and breast cancer development has previously been reported. In the current study, we explored KIT gene expression and exonic copy number variants (CNV) and the relationship with angiogenesis (CD34) and the clinicopathological features of breast cancer. Methods: MLPA technique was used to determine the CNV in 64 breast cancer tumor samples from patients diagnosed with primary sporadic breast cancer. Results were confirmed by quantitative PCR. Expression of KIT and CD34 was determined using immunohistochemistry (IHC). Results: Our results show that 28.1% of the tumor samples from patients with primary sporadic breast cancer had CNV in the KIT gene. Among the breast tumor samples, 54.7% showed positive KIT expression. The expression of the CD34 angiogenesis marker was reported in 43.8% of the tumor samples as low, 42.2% as moderate and 14.1% as high. A significant correlation between increased CNV of KIT exons, a high level of angiogenesis (CD34) and increased tumor grade was observed (p< 0.05). Conclusions: A significant correlation between the KIT CNV and the angiogenesis marker was found. Examining KIT expression and CNV has the potential to function as a biomarker for tyrosine kinase inhibitor drugs in breast cancer.

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Correlation between important genes of mTOR pathway (PI3K and KIT) in Iranian women with sporadic breast cancer

Cited by 6 publications

References 27 publications

Prevalence of CCR5Δ32 genetic variant in the Turkmen population of Golestan province, northeast of Iran

Prevalence of CCR5Δ32 genetic variant in the Turkmen population of Golestan province, northeast of Iran

Construction and validation of a prognostic risk model of angiogenesis factors in skin cutaneous melanoma

The Relationship between KIT Copy Number Variation, Protein Expression, and Angiogenesis in Sporadic Breast Cancer

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