Affiliation:
1. Institute of Biotechnology & Genetic Engineering (Health Division) The University of Agriculture Peshawar Peshawar Pakistan
2. School of Life Science Jiangsu University Zhejiang Jiangsu Province People's Republic of China
3. Department of Zoology Islamia College Peshawar Pakistan
4. Zoology Department King Saud University Riyadh Saudi Arabia
5. Institute of Radiotherapy and Nuclear Medicine (IRNUM) Peshawar Pakistan
6. Department of Community Medicine Khyber Medical College Peshawar Pakistan
7. Centre for Applied Mathematics and Bioinformatics (CAMB) Gulf University for Science and Technology Hawally Kuwait
Abstract
AbstractBackground and AimsBreast 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.MethodsA 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.ResultsOur 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 < 0.005) with family history, metastasis, stage, luminal B, and TNBC.ConclusionIn conclusion, HER1–rs11543848 and HER2–rs1136201 polymorphisms are significantly associated with the higher risk of breast cancer in Pashtun population of Khyber Pakhtunkhwa, Pakistan. These findings advocate for further exploration with larger datasets, offering promising avenues for personalized approaches in breast cancer research and potentially enhancing clinical practices for better risk assessment and targeted management strategies.