Human epidermal growth receptor polymorphisms (HER1–rs11543848 and HER2–rs1136201) exhibited significant association with breast cancer risk in Pashtun population of Khyber Pakhtunkhwa, Pakistan

Background and Aims Breast cancer is the most common type of cancer in women. The genetic polymorphism in HER (HER1–rs11543848 and HER2–rs1136201) were found to be associated with breast cancer risk in different ethnicities worldwide with inconsistent results. The aim of this research study was to e...

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Published in:Health science reports 2024-02, Vol.7 (2), p.e1846-n/a
Main Authors: Sombal, Wafa, Khan, Najeeb Ullah, Khan, Bibi Maryam, Ismail, Muhammad, Almutairi, Mikhlid H., Khan, Samiullah, Khan, Aakif Ullah, Mustafa, Adeela, Iftikhar, Bushra, Ali, Ijaz
Format: Article
Language:English
Subjects:
Breast cancer
Cell division
Cell growth
Genes
Genetic engineering
genetic polymorphism
genetic predisposition
Genotype & phenotype
Growth factors
HER1&2
Kinases
Ligands
Mutation
Original Research
Phosphorylation
Polymorphism
Proteins
risk association
Software
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Summary:Background and Aims Breast cancer is the most common type of cancer in women. The genetic polymorphism in HER (HER1–rs11543848 and HER2–rs1136201) were found to be associated with breast cancer risk in different ethnicities worldwide with inconsistent results. The aim of this research study was to evaluate the association of HER1–rs11543848 and HER2–rs1136201 polymorphisms as a risk of breast cancer in Pashtun population of Khyber Pakhtunkhwa, Pakistan. Methods A total of 314 women including 164 breast cancer patients and 150 age and gender‐matched healthy controls were enrolled from June 2021 to May 2022. All the samples were subjected to DNA extraction followed by Tetra‐ARMS‐PCR for genotyping and gel electrophoresis. Results Our results indicated that HER1–rs11543848 risk allele A (p = 0.0001) and heterozygous genotype GA (p = 0.0001) displayed highly significant association with breast cancer, while the homozygous mutant genotype AA indicated association but nonsignificant results (odds ratio [OR] = 2.637, 95% confidence interval [CI] = 1.2258–5.6756, p = 0.0833). Similarly, the HER2–rs1136201 risk allele G (p = 0.0023), the heterozygous genotype AG (p = 0.0530) and homozygous mutant genotype GG showed significant association (OR = 2.5946, 95% CI = 0.9876–6.8165, p = 0.0530) with breast cancer risk. Both the SNPs presented a higher but nonsignificant risk of breast cancer in postmenopausal women (OR = 2.242, p = 0.08 and OR = 2.009, p = 0.06). However, both the SNPs showed significant association (p 
ISSN:2398-8835
2398-8835
DOI:10.1002/hsr2.1846