Mutation Status and Prognostic Value of KRAS and BRAF in Southeast Iranian Colorectal Cancer Patients: First Report from Southeast of Iran

Yari, Abolfazl; Samoudi, Arash; Afzali, Asiyeh; Karam, Zahra Miri; Karimaldini, Negin Khaje; Abadi, Maryam Fekri Soofi; Ziasistani, Mahsa; Zangouey, Mohammad Reza; Dabiri, Shahriar

doi:10.1007/s12029-020-00426-8

Cited by 9 publications

(24 citation statements)

References 57 publications

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“…The prevalence of BRAF gene mutations in colorectal patients was investigated using the random-effect model. In the 29 (607 patients) out of 88 studies that reported BRAF prevalence, the highest prevalence was reported by Jauhri et al [ 39 ] at 7.1% (95% CI: 3.6–13.6) and Yari et al [ 67 ] at 7.0% (95% CI: 3.4–14.0), respectively. The least BRAF gene mutation was reported by Hsieh et al [ 37 ] at 1.1% (95% CI: 0.3–4.3).…”

Section: Resultsmentioning

confidence: 98%

“…However, research in the Greek population found that KRAS mutations at codon 12 are uncommon (29.3%) [ 133 ]. Only 3 studies of the colorectal cancer patients in our analysis had a KRAS codon 61 mutations [ 26 , 67 , 68 ] which is not surprising given that the majority of KRAS mutations reported in human tumours are in codon 12, with mutations in codons 13 and 61 accounting for only 1.7-9 percent [ 27 ].…”

Section: Discussionmentioning

confidence: 99%

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A Systematic Review and Meta-analysis on the Occurrence of Biomarker Mutation in Colorectal Cancer among the Asian Population

Afolabi

Salleh

Zunita

et al. 2022

BioMed Research International

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Globally, colorectal carcinoma (CRC) is the third most common cancer and the third major cause of cancer-related death in both sexes. KRAS and BRAF mutations are almost mutually exclusively involved in the pathogenesis of CRC. Both are major culprits in treatment failure and poor prognosis for CRC. Method. A systematic review and meta-analysis of various research was done following the Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) guidelines. This trial is registered with PROSPERO CRD42021256452. The initial search included 646 articles; after the removal of noneligible studies, a total of 88 studies was finally selected. Data analysis was carried out using OpenMeta Analyst and Comprehensive Meta-Analysis 3.0 (CMA 3.0) software to investigate the prevalence of KRAS and BRAF mutations among patients with CRC in Asia. Results. The meta-analysis comprises of 25,525 sample sizes from Asia with most being male 15,743/25525 (61.7%). Overall prevalence of KRAS mutations was (59/88) 36.3% (95% CI: 34.5-38.2) with I 2 = 85.54 % ( P value < 0.001). In 43/59 studies, frequency of KRAS mutations was majorly in codon 12 (76.6% (95% CI: 74.2–78.0)) and less in codon 13 (21.0% (95% CI: 19.1-23.0)). Overall prevalence of BRAF mutations was 5.6% (95% CI: 3.9-8.0) with I 2 = 94.00 % ( P value < 0.001). When stratified according to location, a higher prevalence was observed in Indonesia (71.8%) while Pakistan has the lowest (13.5%). Conclusion. Total prevalence of KRAS and BRAF mutations in CRC was 36.6% and 5.6%, respectively, and the results conformed with several published studies on KRAS and BRAF mutations.

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Section: Resultsmentioning

confidence: 98%

Section: Discussionmentioning

confidence: 99%

A Systematic Review and Meta-analysis on the Occurrence of Biomarker Mutation in Colorectal Cancer among the Asian Population

Afolabi

Salleh

Zunita

et al. 2022

BioMed Research International

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“…On the other hand, the Wnt signaling pathway is closely associated with BRAF mutation. Several studies have revealed very low incidence (0% -3.7%) of BRAF mutation in Asian CRCs 21,22 . Since we did not find any BRAF mutations in the same CRC samples as our previous study, this may evidence of the absence of any APC truncated mutation pattern 21 .…”

Section: Discussionmentioning

confidence: 99%

The APC gene rs41115 polymorphism is associated with survival in Iranian colorectal cancer patients

et al. 2020

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Introduction: The onset of colorectal cancer is a complex process caused by numerous genetic pathways. APC functions as a ``"gatekeeper" and its mutations occur at the initiation stage of the colorectal tumorigenesis. The main aim of this study was to investigate common somatic mutations of exon 15 APC genes in patients with colorectal cancer in East Azerbaijan, Iran. Methods: This study was designed and performed as a cross-sectional and case-only study. Tissue biopsies were obtained during colonoscopy and confirmed colorectal carcinoma cases were evaluated. Two hotspot regions of exon 15 for APC mutations were evaluated using PCR amplification and Sanger sequence analysis. Results: The synonymous (p.Thr1475Thr) polymorphism was observed in all patients; 35 patients (61.4%) had AG genotype and 22 patients (38.6%) had AA genotype. Also, a missense mutation and two deletions were found. Pearson's correlation test showed a significant correlation between the stage of the disease (rho = 0.23, P =< 0.05), and anatomical subsite of the tumor with rs41115 polymorphism (rho = 0.31, P =< 0.05). Overall comparison of survival function in the different genotypes of the APC gene showed significant differences between groups, and CRCs with AG genotype had 3.24-fold higher hazard of mortality than CRCs with AA genotype (HR = 3.24; 95% CI: 1.21 - 8.68, P = 0.020). Conclusion: APC mutation plays an important predictive role in overall survival. However, the pattern and type of APC gene have a diverse impact on clinical outcomes in the Asian population. Moreover, in CRC patients the APC mutations were reported to be diverse variants.

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“…It is worth noting that the incidence of mutations in the BRAF gene differs in patients from different populations. For example, in the USA mutation were detected in 28.4% of cases, while in Iran only in 7% [16,17].…”

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confidence: 98%

“…Since the characteristics of patients with BRAF-mutated tumors vary widely in different populations [15][16][17], in this work we studied the clinical and genetic features of Russian probands with CRC taking into account their BRAF status.…”

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confidence: 99%

Genetic and phenotypic characteristics of Russian patients with BRAF-mutated colorectal cancer

Логинова¹,

Shelygin²,

Vitaly³

et al. 2021

neo

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Colorectal cancer (CRC) is one of the most common malignancies in the world. It's estimated about 1,8 M new CRC cases worldwide per year. A somatic mutation in the BRAF gene in the tumor is a negative prognostic factor. This work is aimed at studying the clinical and genetic characteristics of Russian CRC patients with the BRAF mutation. The BRAF mutations were studied by Sanger sequencing and digital droplet PCR in 489 patients and found in 34 (7%) cases. The most common mutation was p.V600E (82%). Also, rare variants were found: p.K601E, p.N581I, p.G596R, and p.D594N. All the patients with rare mutations were characterized by an unfavorable prognosis of the disease. The clinical features of the patients with BRAF mutations in the study include the predominant primary tumor site in the rectum, in addition to the right colon. Then, most of the cases were diagnosed in the advanced stages of the disease and were represented by high-grade adenocarcinomas. This article demonstrates the feasibility of analysis of the entire exon 15 of BRAF gene in CRC patients regardless of tumor localization.

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Mutation Status and Prognostic Value of KRAS and BRAF in Southeast Iranian Colorectal Cancer Patients: First Report from Southeast of Iran

Cited by 9 publications

References 57 publications

A Systematic Review and Meta-analysis on the Occurrence of Biomarker Mutation in Colorectal Cancer among the Asian Population

A Systematic Review and Meta-analysis on the Occurrence of Biomarker Mutation in Colorectal Cancer among the Asian Population

The APC gene rs41115 polymorphism is associated with survival in Iranian colorectal cancer patients

Genetic and phenotypic characteristics of Russian patients with BRAF-mutated colorectal cancer

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