Filip Claudiu Ioan, Cătană Andreea, Pîrlog Lorin-Manuel, Pătrășcanu Andrada-Adelaida, Militaru Mariela Sanda, Iordănescu Irina, Dindelegan George Călin
Department of Plastic Surgery and Burn Unit, Emergency District Hospital, 400535 Cluj-Napoca, Romania.
First Surgical Clinic, Faculty of Medicine, University of Medicine and Pharmacy "Iuliu Hatieganu", 400012 Cluj-Napoca, Romania.
J Clin Med. 2025 May 27;14(11):3764. doi: 10.3390/jcm14113764.
: This study investigates the distribution and interaction of three polymorphisms-XRCC1 (rs1799782), CHEK2 (rs17879961), and XPD (rs238406)-in Romanian breast cancer patients, aiming to understand their association with histopathological subtypes, age, and BMI. : This retrospective study analyzed 36 breast cancer patients from a Romanian clinic (2020-2024) with complete genetic data for XRCC1 (rs1799782), CHEK2 (rs17879961), and XPD (rs238406). The patients had invasive, non-metastatic breast cancer and no history of other cancers. Statistical analysis with Jamovi included descriptive stats, McNemar's test for genotype associations, and multinomial logistic regression to explore links between variants, age, BMI, and tumor subtypes. : McNemar tests showed no significant association between XRCC1 and CHEK2 ( = 0.180), nor between XRCC1 and XPD ( = 0.03) or XPD and CHEK2 ( = 0.049) after applying the Bonferroni correction (α = 0.0167), indicating no statistically significant genetic dependency among these variants. A multinomial logistic regression model found that genetic variants, BMI, and age significantly predicted breast cancer subtypes, particularly CDI TNB. All predictors remained significant in the comparisons of CDI TNB vs. CDI LB/CDI LA. Notably, these associations remained unchanged even after applying the Bonferroni correction (α = 0.0021), confirming the robustness of the findings. : This study identifies significant associations between XRCC1, CHEK2, and XPD gene variants and CDI TNB, suggesting a role of DNA repair deficiencies in its pathogenesis. Protective genotypes were under-represented in TNB cases. Limited links with luminal subtypes highlight TNB's distinct genetic profile. Results support further research on these polymorphisms as markers for TNB risk and precision treatment.
本研究调查了三种多态性——XRCC1（rs1799782）、CHEK2（rs17879961）和XPD（rs238406）——在罗马尼亚乳腺癌患者中的分布及相互作用，旨在了解它们与组织病理学亚型、年龄和体重指数（BMI）之间的关联。本回顾性研究分析了罗马尼亚一家诊所（2020 - 2024年）的36例乳腺癌患者，这些患者具有XRCC1（rs1799782）、CHEK2（rs17879961）和XPD（rs238406）的完整基因数据。患者患有浸润性、非转移性乳腺癌且无其他癌症病史。使用Jamovi进行的统计分析包括描述性统计、用于基因型关联的 McNemar 检验以及用于探索变异、年龄、BMI和肿瘤亚型之间联系的多项逻辑回归。McNemar检验显示，在应用Bonferroni校正（α = 0.0167）后，XRCC1与CHEK2之间（P = 0.180）、XRCC1与XPD之间（P = 0.03）或XPD与CHEK2之间（P = 0.049）均无显著关联，表明这些变异之间不存在统计学上显著的基因依赖性。一个多项逻辑回归模型发现，基因变异、BMI和年龄显著预测了乳腺癌亚型，尤其是三阴性乳腺癌（TNBC）。在TNBC与腔面型低级别/腔面型高级别（Luminal B/Luminal A）的比较中，所有预测因素均保持显著。值得注意的是，即使应用Bonferroni校正（α = 0.0021）后，这些关联仍保持不变，证实了研究结果的稳健性。本研究确定了XRCC1、CHEK2和XPD基因变异与TNBC之间的显著关联，表明DNA修复缺陷在其发病机制中起作用。在TNBC病例中，保护性基因型的比例较低。与腔面型亚型的有限联系突出了TNBC独特的基因特征。研究结果支持进一步研究这些多态性作为TNBC风险和精准治疗标志物的作用。
