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Significant association of BRCA1 (rs1799950), BRCA2 (rs144848) and TP53 (rs1042522) polymorphism with breast cancer risk in Pashtun population of Khyber Pakhtunkhwa, Pakistan

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Abstract

Background

Single nucleotide polymorphism (SNPs) in BRCA1, BRCA2 and TP53 has been widely associated with breast cancer risk in different ethnicities with inconsistent results. There is no such study conducted so far in the Pashtun population of Khyber Pakhtunkhwa, Pakistan. Therefore, this study was conducted to check BRCA1 (rs1799950), BRCA2 (rs144848) and TP53 (rs1042522) polymorphism with breast cancer risk in Pashtun population of Khyber Pakhtunkhwa, Pakistan.

Methods

This study, consisting 140 breast cancer patients and 80 gender and age matched healthy controls were subjected to confirm BRCA1, BRCA2 and TP53 polymorphism. Clinicopathological data and blood samples were taken from all the participants. DNA was extracted and SNPs were confirmed using T-ARMS-PCR protocol.

Results

Our data indicated that BRCA1, BRCA2, and TP53 selected SNPs risk allele and risk allele containing genotypes displayed significant association (p < 0.05) with breast cancer risk in the Pashtun population of Khyber Pakhtunkhwa, Pakistan.

Conclusion

All the three selected SNPs of BRCA1, BRCA2 and TP53 showed significant association with breast cancer risk in the Pashtun population of Khyber Pakhtunkhwa, Pakistan. However, more investigation will be required on large data sets to confirm the selected SNPs and other SNPs in the selected and other related genes with the risk of breast cancer.

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There is no funding received for this study.

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Authors and Affiliations

  1. Institute of Biotechnology and Genetic Engineering (Health Division), The University of Agriculture, Peshawar, Pakistan

    Yumna Khan, Najeeb Ullah Khan & Aqib Iqbal

  2. Centre for Applied Mathematics and Bioinformatics (CAMB), Gulf University for Science and Technology, Hawally, Kuwait

    Ijaz Ali

  3. Institute of Radiotherapy and Nuclear Medicine (IRNUM), Peshawar, Pakistan

    Samiullah Khan & Aakif Ullah Khan

  4. Department of RNA Science, The Brain Institute of America, New Haven, CT, USA

    Brian D. Adams

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  1. Yumna Khan
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  4. Samiullah Khan
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  5. Aakif Ullah Khan
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Contributions

YK and NK designed this study. YK, NK, and SK conducted the analysis, produced the figures, and drafted the manuscript. AK, and BA co-wrote the manuscript. IA, AI, and BA reviewed the manuscript and provided advice on the content of this manuscript.

Corresponding authors

Correspondence to Najeeb Ullah Khan or Brian D. Adams.

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The authors declare no conflict of interest regarding to publish this paper.

Ethical approval

All the procedures performed in this study were in accordance with the ethical standards of the IBGE, UAP and IRNUM hospital research committees and with the 1964 Helsinki Declaration.

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Informed consent was obtained from all the participants while explaining the objectives of the study.

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Khan, Y., Khan, N.U., Ali, I. et al. Significant association of BRCA1 (rs1799950), BRCA2 (rs144848) and TP53 (rs1042522) polymorphism with breast cancer risk in Pashtun population of Khyber Pakhtunkhwa, Pakistan. Mol Biol Rep 50, 6087–6096 (2023). https://doi.org/10.1007/s11033-023-08463-9

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