New germline mutations in non-BRCA genes among breast cancer women of Mongoloid origin

Gervas, Polina; Molokov, Aleksey; Schegoleva, Anastasia A; Kiselev, A. A.; Бабышкина, Н. Н.; Писарева, Л. Ф.; Tyukalov, Yury; Choynzonov, E. L.; Чердынцева, Н. В.

doi:10.1007/s11033-020-05612-2

Cited by 8 publications

(7 citation statements)

References 31 publications

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“…PTEN is a multifunctional tumor suppressor gene, which is mutated in large number of cancers at different frequency. PTEN alterations are more frequent in glioblastoma (30%-60%) [22,23], breast cancer(11%-15%) [24,25], prostate cancer (17%-21%) [26,27]. PTEN mutation is thought to be an early step in the development and progression of EC patients [28,29].…”

Section: Discussionmentioning

confidence: 99%

The Critical Role of PTEN Mutation in Cellular Process and Drug Selection of Endometrial Cancer

Liu¹,

Zhou²,

Niu³

et al. 2020

Preprint

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Background: Phosphatase and tensin homolog (PTEN) is a frequently mutated genes found in endometrial cancer (EC), making it a potential biomarker for individualized treatment opinions. In this study, a method was designed to evaluate the role of the PTEN mutation in the prognosis and drug selection of EC. We identified the potential alterations in pathways and genes related to the mechanism. Methods: cBioPortal database was used to analyze the PTEN mutation status for EC patients. Kaplan-Meier was used to analyze the prognosis of PTEN mutation in EC patients. GDSC dataset was used to identified the drugs that sensitive to cell lines with PTEN mutation. DEGs between PTEN mutation and wide type group were identified using the edgeR package. GO and KEGG analysis were carried out using the DAVID database. GSEA v3.0 were used to dig out the differences in gene mRNA levels of biological function annotation and pathways between PTEN mutation and wide type patients. PPI network of DEGs was performed using STRING and then visualized using Cytoscope software (3.7.2).Results: Our results showed that PTEN mutation was carried in 68% of EC patients. The mRNA expression level of PTEN was lower in patients with PTEN mutation than that with wide type. Prognosis analysis showed that there were favorable overall survival and progression free survival in EC patients with PTEN mutation. Moreover, it is more sensitive to AKT inhibitor (Afuresertib and AZD5363), and Mcl-1 inhibitor (MIM1) on EC cell lines with PTEN mutation than that with wide type. A total of 216 genes were identified as DEGs. GO analysis showed that DEGs significantly enriched in chemical synaptic transmission, extracellular region, etc.. KEGG analysis suggested that DEGs significantly enriched in categories associated with metabolic progression. GSEA analysis identified signaling pathways including fatty acid metabolism, fructose and mannose metabolism, etc.. PPI network analysis identified top 10 genes and top three clusters.Conclusions: Multiple genes and pathways may play an important role in EC patients with PTEN mutation. These results provide a potential target and therapeutic strategies for patients with PTEN mutation.

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Section: Discussionmentioning

confidence: 99%

The Critical Role of PTEN Mutation in Cellular Process and Drug Selection of Endometrial Cancer

Liu¹,

Zhou²,

Niu³

et al. 2020

Preprint

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“…Asian is the most common population worldwide and is mainly scattered throughout Southeast Asia, East Asia, and South America. 13 , 14 The White population originated from Europe, Western Asia, and South Asia. Forest plots were generated to visualize the overall effects, and funnel plots were generated and visually inspected for asymmetry to determine if there was any publication bias.…”

Section: Methodsmentioning

confidence: 99%

Association between interleukin 12B and interleukin 23R gene polymorphisms and systemic lupus erythematosus: a meta-analysis

et al. 2022

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Objective To determine whether polymorphisms of interleukin 12B ( IL12B) and IL23 receptor genes ( IL23R) confer susceptibility to systemic lupus erythematosus (SLE). Methods A meta-analysis was conducted to analyze the associations between SLE and IL12B rs3212227 and rs17860508 and IL23R rs7517847, rs10489629, rs10889677, rs1004819, rs11209026, rs11209032, rs1343151, and rs1884444 polymorphisms using allele contrast, dominant, recessive, heterozygote, and homozygote models. Ten studies involving 1989 patients with SLE and 2394 controls were considered for the meta-analysis. Results The meta-analysis using the homozygote model revealed that IL23R rs10889677 was significantly associated with SLE susceptibility in the overall population (AA vs. CC) (odds ratio = 0.70, 95% confidence interval = 0.50–0.98) but not in the Asian population. Other polymorphisms of IL12B and IL23R were not significantly associated with SLE protection. Conclusions These findings suggest that the IL23R rs10889677 polymorphism confers SLE susceptibility to individuals of certain ethnicities. (Research Registry number: 1268)

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“…On the other hand, the huge amount of data obtained during high-throughput sequencing requires a detailed and extensive annotation in order to identify the clinically significant alterations in the cancer-associated genes. Note that the proportion of variants of unknown pathogenetic significance and conflicting significance in poorly studied populations reaches up to 30-50%, which prevents the correct diagnosis and, consequently, selection of adequate therapy [19].…”

Section: Ngs-based Techniquesmentioning

confidence: 99%

Genomic and Transcriptomic Research in the Discovery and Application of Colorectal Cancer Circulating Markers

Ponomaryova,

Rykova,

Solovyova

et al. 2023

IJMS

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Colorectal cancer (CRC) is the most frequently occurring malignancy in the world. However, the mortality from CRC can be reduced through early diagnostics, selection of the most effective treatment, observation of the therapy success, and the earliest possible diagnosis of recurrences. A comprehensive analysis of genetic and epigenetic factors contributing to the CRC development is needed to refine diagnostic, therapeutic, and preventive strategies and to ensure appropriate decision making in managing specific CRC cases. The liquid biopsy approach utilizing circulating markers has demonstrated its good performance as a tool to detect the changes in the molecular pathways associated with various cancers. In this review, we attempted to brief the main tendencies in the development of circulating DNA and RNA-based markers in CRC such as cancer-associated DNA mutations, DNA methylation changes, and non-coding RNA expression shifts. Attention is devoted to the existing circulating nucleic acid-based CRC markers, the possibility of their application in clinical practice today, and their future improvement. Approaches to the discovery and verification of new markers are described, and the existing problems and potential solutions for them are highlighted.

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New germline mutations in non-BRCA genes among breast cancer women of Mongoloid origin

Cited by 8 publications

References 31 publications

The Critical Role of PTEN Mutation in Cellular Process and Drug Selection of Endometrial Cancer

The Critical Role of PTEN Mutation in Cellular Process and Drug Selection of Endometrial Cancer

Association between interleukin 12B and interleukin 23R gene polymorphisms and systemic lupus erythematosus: a meta-analysis

Genomic and Transcriptomic Research in the Discovery and Application of Colorectal Cancer Circulating Markers

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