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

Autor: Khan Y; Institute of Biotechnology and Genetic Engineering (Health Division), The University of Agriculture, Peshawar, Pakistan., Khan NU; Institute of Biotechnology and Genetic Engineering (Health Division), The University of Agriculture, Peshawar, Pakistan. najeebkhan@aup.edu.pk., Ali I; Centre for Applied Mathematics and Bioinformatics (CAMB), Gulf University for Science and Technology, Hawally, Kuwait., Khan S; Institute of Radiotherapy and Nuclear Medicine (IRNUM), Peshawar, Pakistan., Khan AU; Institute of Radiotherapy and Nuclear Medicine (IRNUM), Peshawar, Pakistan., Iqbal A; Institute of Biotechnology and Genetic Engineering (Health Division), The University of Agriculture, Peshawar, Pakistan., Adams BD; Department of RNA Science, The Brain Institute of America, New Haven, CT, USA. brian.adams@braininstituteamerica.com.
Jazyk: angličtina
Zdroj: Molecular biology reports [Mol Biol Rep] 2023 Jul; Vol. 50 (7), pp. 6087-6096. Date of Electronic Publication: 2023 Jun 10.
DOI: 10.1007/s11033-023-08463-9
Abstrakt: 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.
(© 2023. The Author(s), under exclusive licence to Springer Nature B.V.)
Databáze: MEDLINE
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