Correction to: SNPs Ability to Influence Disease Risk: Breaking the Silence on Synonymous Mutations in Cancer

Herreros, Eduardo; Janssens, Xander; Pepe, Daniele; Keersmaecker, Kim De

doi:10.1007/978-3-031-05616-1_11

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“…Previously, non-synonymous mutations were considered crucial however, emerging research suggests the role of synonymous mutations in the development of cancer due to impact on mRNA structure and stability, protein expression level, microRNA (miRNA) binding and splicing. 4 miRNA regulates gene expression post-transcriptionally. Mutations in miRNA binding sites disrupt gene expression, leading to tumorigenesis.…”

Section: Introductionmentioning

confidence: 99%

“…Similarly, the variants can change mRNA stability and protein function. 4 Thus, considering the burden of breast cancer in Pakistan and BRCA1 being high penetrant gene, the current study was designed to screen participants for BRCA1 gene variants. Additionally, in-silico approaches were used to decipher the impact of genetic changes on miRNA binding sites along with the structure and stability of transcripts in oncogenesis.…”

Section: Introductionmentioning

confidence: 99%

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Unraveling the Role of BRCA1 variants in Dysregulation of Transcriptional and Post-Transcriptional Mechanisms in Breast Cancer

Majeed,

Zinan,

Faryal

2024

Pak J Med Sci

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Objective: To screen BRCA1 gene variants and predict potential role of the identified variants in breast cancer. Method: This case-control study included two hundred and fifty breast cancer patients and equal healthy individuals from the Federal Breast Cancer Screening Centre, Pakistan Institute of Medical Sciences, Islamabad from March 2021- January 2023. Demographic data was collected through questionnaires and clinical data was assessed using mammograms, ultrasound, histopathology and immunohistochemistry reports. Polymerase chain reaction and Sanger sequencing approach were used to detect variants in BRCA1 gene. In-silico analyses were carried out to predict mutation effect, miRNA binding site alterations and change in mRNA structure and stability. Results: Invasive ductal carcinoma was the most prevalent type of breast cancer. Old age [OR: 2.8149 (1.5995 to 4.9538) p value = 0.0003] and family history [OR: 4.3186 (1.7336 to 10.7581) p value = 0.001] were significant breast cancer risk. Six variants were identified. Two novel missense variants, Chr17:43082553A>T and Chr17:43093710A>T were predicted deleterious as these disrupted interaction with PALB2 and importin alpha’s NLS2 site, respectively. In silico analysis predicted the loss of hsa-miR-1179 binding site due to variant Chr17:43093220T>C. Moreover, four variants were predicted to affect the mRNA structure and stability. Conclusion: Two novel variants were predicted to be pathogenic. In-silico analysis predicted the loss of miRNA binding site along with change in mRNA secondary structure plus stability, possible mechanisms for oncogenesis. Further, expressional studies are required to confirm BRCA1 gene dysregulation in breast cancer due to these variants. doi: https://doi.org/10.12669/pjms.40.6.8761 How to cite this: Majeed AI, Zinan S, Faryal R. Unraveling the Role of BRCA1 variants in Dysregulation of Transcriptional and Post-Transcriptional Mechanisms in Breast Cancer. Pak J Med Sci. 2024;40(6):1093-1098. doi: https://doi.org/10.12669/pjms.40.6.8761 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Unraveling the Role of BRCA1 variants in Dysregulation of Transcriptional and Post-Transcriptional Mechanisms in Breast Cancer

Majeed,

Zinan,

Faryal

2024

Pak J Med Sci

View full text Add to dashboard Cite

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Correction to: SNPs Ability to Influence Disease Risk: Breaking the Silence on Synonymous Mutations in Cancer

Abstract: The original version of this chapter was previously published as non-open access.

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Unraveling the Role of BRCA1 variants in Dysregulation of Transcriptional and Post-Transcriptional Mechanisms in Breast Cancer

Unraveling the Role of BRCA1 variants in Dysregulation of Transcriptional and Post-Transcriptional Mechanisms in Breast Cancer

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