KRAS, BRAF and TP53 mutations in Romanian colorectal cancer patients

Murăraşu, Daniela; Puiu, Liliana; Mihalcea, Corina Elena; Cinca, Sabin; Simion, Laurentiu

doi:10.1016/j.jbiotec.2016.05.327

Cited by 4 publications

(7 citation statements)

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“…We also found that patients with TP53 mutation had a higher frequency of KRAS mutations in exon 2 compared to patients without TP53 mutation ( p = 0.006). Similar findings were reported in another study conducted in Romania [ 39 ]. This could be attributed to genetic processes that occur early in the development of colorectal cancer.…”

Section: Discussionsupporting

confidence: 92%

Clinical, Pathological and Molecular Insights on KRAS, NRAS, BRAF, PIK3CA and TP53 Mutations in Metastatic Colorectal Cancer Patients from Northeastern Romania

Afrăsânie

Marinca

Gafton

et al. 2023

IJMS

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Mutations in RAS, BRAF, PIK3CA, and TP53 are well-established genetic abnormalities in metastatic colorectal cancer (mCRC). However, limited information is available for patients from Eastern Europe, including Romania. In this retrospective analysis, we investigated 104 mCRC patients from the Northeastern region of Romania to determine the frequency, distribution, coexistence, and clinicopathological and molecular correlations of these mutations. TP53 was the most frequently mutated gene (73.1%), followed by KRAS (45.2%) and PIK3CA (6.7%). Patients with KRAS mutant tumors and wild-type TP53 genotype were found to have no personal history of gastrointestinal cancer (p = 0.02, p = 0.007). KRAS mutations in exon 3 were associated with the female gender (p = 0.02) and the absence of lymph node invasion (p = 0.02). PIK3CA mutations were linked to the absence of lymph node invasion (p = 0.006). TP53 mutations were associated with KRAS mutations in exon 2 (p = 0.006), ulcerated histopathologic type (p = 0.04), and G2 differentiation (p = 0.01). It provides novel insights into genetic variations specific to the population from Northeastern Romania, which has been underrepresented in previous studies within Eastern Europe. Furthermore, our findings enable the development of genetic profiles in a developing country with limited access to specialized genetic tests and facilitate comparisons with other populations.

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Section: Discussionsupporting

confidence: 92%

Clinical, Pathological and Molecular Insights on KRAS, NRAS, BRAF, PIK3CA and TP53 Mutations in Metastatic Colorectal Cancer Patients from Northeastern Romania

Afrăsânie

Marinca

Gafton

et al. 2023

IJMS

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“…However, our frequencies of all investigates variants were similar to the allele frequencies reported by Ensembl Genome browser. Regarding other Romanian studies, similar frequencies of TP53 rs1042522 alleles were found in a case-control study where Romanian colorectal cancer patients were included [54]. Another case-control study, where Romanian and German cholangiocarcinoma patients were included, investigated TP53 rs1042522 (TP53 Arg72Pro) and MDM2 rs2279744 (MDM2 309T>G) and similar genotypes frequencies were reported [55].…”

Section: Discussionsupporting

confidence: 73%

Association Analysis of TP53 rs1042522, MDM2 rs2279744, rs3730485, MDM4 rs4245739 Variants and Acute Myeloid Leukemia Susceptibility, Risk Stratification Scores, and Clinical Features: An Exploratory Study

Tripon

Iancu

Crauciuc

et al. 2020

JCM

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This study aimed to explore the associations between the TP53 rs1042522 (TP53 Arg72Pro), MDM2 rs2279744 (MDM2 309T>G), rs3730485 (MDM2 del1518), MDM4 rs4245739 (MDM4 34091 C>A) variants and odds of developing acute myeloid leukemia (AML) in a cohort of 809 adult subjects, consisting of 406 healthy controls and 403 AML patients. Model-based multifactor dimensionality reduction (MB-MDR) framework was used to identify the interactions of the mentioned variants and their association with AML risk. Associations of the mentioned variants with clinical features of AML, somatic mutations, and response to treatment were also evaluated. Significant associations between TP53 rs1042522 and MDM4 rs4245739 variants and AML susceptibility were noticed. MB-MDR and logistic regression analysis revealed an interaction between MDM2 rs2279744 and TP53 rs1042522, between MDM4 rs4245739 and MDM2 rs3730485, as well as significant associations with AML susceptibility. Several associations between the mentioned variants and clinical features of AML and somatic mutations were also noticed. Individually, the variant genotypes of TP53 rs1042522 and MDM4 rs4245739 were associated with AML susceptibility, but their interaction with MDM2 rs2279744 and rs3730485 modulated the risk for AML. The variant genotypes of TP53 rs1042522 were associated with adverse molecular and cytogenetic risk and also with NPM1 mutations.

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“…Present research accomplishments have been reported by De Galitiis [ 101 ] in p53 gene mutations in colorectal cancer using fluorescence-assisted mismatch analysis (FAMA). Thorough research on p53, gene polymorphism in a specified population might be conducted using FAMA by focusing on a specific location (based on a geodemographic classification, such as Romanians and their genetic polymorphism, as described previously by Murarasu [ 102 , 103 ]). Because the discovery of more frequent mutations might indicate earlier detection and treatment, such an intervention may consistently contribute to cancer control in that region.…”

Section: Resultsmentioning

confidence: 99%

Indocyanine Green (ICG) and Colorectal Surgery: A Literature Review on Qualitative and Quantitative Methods of Usage

Simion,

Ionescu,

Chitoran

et al. 2023

Medicina

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Background: Due to its many benefits, indocyanine green (ICG) has gained progressive popularity in operating rooms (ORs) globally. This literature review examines its qualitative and quantitative usage in surgical treatment. Method: Relevant terms were searched in five international databases (1. Pubmed, 2. Sciencedirect, 3. Scopus, 4. Oxfordjournals, 5. Reaxys) for a comprehensive literature review. The main benefits of using ICG in colorectal surgery are: intraoperative fluorescence angiography; fluorescence-guided lymph node involvement detection and the sentinel technique; the fluorescent emphasis of a minute liver tumour, counting just 200 tumour cells; facilitation of fistula diagnosis; and tumour tattooing. This methodology can also be used with quantitative characteristics such as maximum intensity, relative maximum intensity, and in-flow parameters such as time-to-peak, slope, and t1/2max. This article concludes that fluorescence surgery with ICG and near-infrared (NIR) light is a relatively new technology that improves anatomical and functional information, allowing more comprehensive and safer tumour removal and the preservation of important structures.

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KRAS, BRAF and TP53 mutations in Romanian colorectal cancer patients

Cited by 4 publications

References 0 publications

Clinical, Pathological and Molecular Insights on KRAS, NRAS, BRAF, PIK3CA and TP53 Mutations in Metastatic Colorectal Cancer Patients from Northeastern Romania

Clinical, Pathological and Molecular Insights on KRAS, NRAS, BRAF, PIK3CA and TP53 Mutations in Metastatic Colorectal Cancer Patients from Northeastern Romania

Association Analysis of TP53 rs1042522, MDM2 rs2279744, rs3730485, MDM4 rs4245739 Variants and Acute Myeloid Leukemia Susceptibility, Risk Stratification Scores, and Clinical Features: An Exploratory Study

Indocyanine Green (ICG) and Colorectal Surgery: A Literature Review on Qualitative and Quantitative Methods of Usage

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