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Background/Objective <p>Breast cancer, as a life-threatening malignancy, is the most common cancer in women worldwide. Genetic variations have been identified as one of the risk factors for the disease. The present study aimed to assess the association between <i>rs889312</i> and <i>rs4415084</i> genetic variations and the risk of breast cancer in a group of the Northeast population of Iran.</p> Methods <p>The study population included 160 breast cancer patients referred to Omid Hospital, Mashhad University of Medical Sciences, Mashhad, Iran, and 159 women with no evidence of the disease as the control group. DNA was extracted from blood samples using the salting out method. The allele-specific PCR method was used for genotyping. A P-value of less than 0.05 is regarded as statistically significant.</p> Results <p>Individuals with the <i>rs889312</i>-CC genotype comprised 33.8% of cases (<i>n</i> = 54) compared to 17.6% of controls (<i>n</i> = 28) (<i>p</i> = 0.001). Also, the rate of <i>rs889312</i>-C allele was significantly higher in breast cancer patients than in controls (<i>p</i> &lt; 0.001). The <i>rs4415084</i>-CC genotype was observed in 62 cases(38.8%) compared to 47 controls(29.6%) (<i>p</i> = 0.029). The allelic distribution indicated that the rate of <i>rs4415084</i>-C allele was higher in breast cancer patients (<i>n</i> = 170, 53.1%) than in controls (<i>n</i> = 130, 40.9%) (<i>p</i> = 0.002). There was no association between these polymorphisms and pathological characteristics of the tumors.</p> Conclusion <p>The present study revealed that <i>rs889312</i> and <i>rs4415084</i> polymorphisms could potentially be diagnostic genetic markers for breast cancer in Iran. However, further studies are needed to validate these findings for designing population-based polygenic risk scores.</p>

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Association of Breast Cancer Risk with Genetic Polymorphisms rs889312 and rs4415084

  • 期刊论文

  • 发表日期：

    2026年1月6日

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  • Babak Rabbani,
  • Soheila Jafarpour,
  • Zahra Farshchian,
  • Asma Khorshid-Shamshiri,
  • Maryam Alidoust,
  • Fatemeh Homaei-Shandiz,
  • Alireza Pasdar,
  • Fahimeh Afzaljavan

摘要

Background/Objective

Breast cancer, as a life-threatening malignancy, is the most common cancer in women worldwide. Genetic variations have been identified as one of the risk factors for the disease. The present study aimed to assess the association between rs889312 and rs4415084 genetic variations and the risk of breast cancer in a group of the Northeast population of Iran.

Methods

The study population included 160 breast cancer patients referred to Omid Hospital, Mashhad University of Medical Sciences, Mashhad, Iran, and 159 women with no evidence of the disease as the control group. DNA was extracted from blood samples using the salting out method. The allele-specific PCR method was used for genotyping. A P-value of less than 0.05 is regarded as statistically significant.

Results

Individuals with the rs889312-CC genotype comprised 33.8% of cases (n = 54) compared to 17.6% of controls (n = 28) (p = 0.001). Also, the rate of rs889312-C allele was significantly higher in breast cancer patients than in controls (p < 0.001). The rs4415084-CC genotype was observed in 62 cases(38.8%) compared to 47 controls(29.6%) (p = 0.029). The allelic distribution indicated that the rate of rs4415084-C allele was higher in breast cancer patients (n = 170, 53.1%) than in controls (n = 130, 40.9%) (p = 0.002). There was no association between these polymorphisms and pathological characteristics of the tumors.

Conclusion

The present study revealed that rs889312 and rs4415084 polymorphisms could potentially be diagnostic genetic markers for breast cancer in Iran. However, further studies are needed to validate these findings for designing population-based polygenic risk scores.