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Background <p>Breast cancer is a common malignancy among women, with increasing incidence and mortality rates worldwide. This study examines specific gene polymorphisms in <i>BRCA1</i>, <i>BRCA2</i>, <i>FGFR4</i>, <i>CDKN1B</i>, <i>AURKA</i>, <i>GPX4</i>, <i>TP53</i>, and <i>CASP8</i> and their association with breast cancer risk among Iranian women, aiming to improve early detection and treatment strategies.</p> Materials and methods <p>This study employed PCR–RFLP and bioinformatics analyses to investigate gene polymorphisms related to breast cancer risk in 200 Iranian patients and 200 controls, with the impacts of SNPs predicted using software tools such as SNPnexus and PolyPhen.</p> Results <p>The study found that certain factors, including age, family history, secondhand smoke exposure, and ovarian cysts, significantly increased breast cancer risk, whereas breastfeeding and active smoking did not show significant associations. Genotype analysis revealed that specific SNPs, including <i>BRCA1</i> (rs1799950), <i>CDKN1B</i> (rs34330), <i>AURKA</i> (rs2273535), <i>GPX4</i> (rs713041), and <i>CASP8</i> (rs1045485), were associated with either increased breast cancer risk or protective effects, while in-silico analysis identified some SNPs as potentially deleterious to protein function.</p> Conclusion <p>This study among Iranian women highlights significant associations between specific polymorphisms and breast cancer susceptibility, underscoring the importance of genetic profiling for personalized prevention and treatment strategies.</p>

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Polymorphisms in cancer-related genes and their association with breast cancer risk in Iranian women

  • 期刊论文

  • 发表日期：

    2025年8月5日

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  • Atefeh Liravi,
  • Massoud Houshmand,
  • Mojtaba Jafarinia,
  • Mohsen Forouzanfar

摘要

Background

Breast cancer is a common malignancy among women, with increasing incidence and mortality rates worldwide. This study examines specific gene polymorphisms in BRCA1, BRCA2, FGFR4, CDKN1B, AURKA, GPX4, TP53, and CASP8 and their association with breast cancer risk among Iranian women, aiming to improve early detection and treatment strategies.

Materials and methods

This study employed PCR–RFLP and bioinformatics analyses to investigate gene polymorphisms related to breast cancer risk in 200 Iranian patients and 200 controls, with the impacts of SNPs predicted using software tools such as SNPnexus and PolyPhen.

Results

The study found that certain factors, including age, family history, secondhand smoke exposure, and ovarian cysts, significantly increased breast cancer risk, whereas breastfeeding and active smoking did not show significant associations. Genotype analysis revealed that specific SNPs, including BRCA1 (rs1799950), CDKN1B (rs34330), AURKA (rs2273535), GPX4 (rs713041), and CASP8 (rs1045485), were associated with either increased breast cancer risk or protective effects, while in-silico analysis identified some SNPs as potentially deleterious to protein function.

Conclusion

This study among Iranian women highlights significant associations between specific polymorphisms and breast cancer susceptibility, underscoring the importance of genetic profiling for personalized prevention and treatment strategies.