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<p>Colorectal cancer (CRC) is the second leading cause of malignancy-related death worldwide, representing a significant health concern. Understanding the disease pathogenesis and identifying potential prognostic biomarkers is critical for improving patients’ clinical outcomes. Haemostatic components implicated in cancer-associated thrombosis (CAT) seem to favour CRC progression. As such, genetic markers of thrombophilia might be potential prognostic biomarkers among patients with this malignant disease. To offer perspectives, a retrospective cohort study with 204 CRC patients was conducted to investigate the impact of seven germline haemostatic gene determinants on patient prognosis. A sex-stratified analysis was performed as the variants seem to have a distinct influence depending on the patient’s sex. Genomic DNA was extracted from FFPE samples enriched in tumour cells. While the polymorphisms <i>CNTN6</i> rs6764623 (CC/CA vs. AA; adjusted hazard ratio (aHR) = 0.44; 95% confidence interval (CI), 0.20–0.96; <i>P</i> = 0.040), <i>PTGS2</i> rs20417 (GG vs. CC/CG; aHR = 2.88; 95%CI, 1.10–7.51; <i>P</i> = 0.031) and <i>RGS7</i> rs2502448 (TT vs. CT/CC; aHR = 2.35; 95%CI, 1.20–4.61; <i>P</i> = 0.013) were associated with the five-year risk of cancer recurrence, <i>ITGB3</i> rs5918 was a predictor of the risk of death due to all causes, particularly among male patients (TT vs. CT/CC; aHR = 2.05; 95% confidence interval (CI), 1.13–3.72; <i>P</i> = 0.019). While a sex-specific impact of the SNPs was observed, further investigation in larger cohorts, particularly with an increased representation of female patients, is required to confirm these associations. Collectively, these markers could help improve the prognosis assessment of CRC patients towards a more personalised intervention.</p> Graphical abstract <p></p>

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Genetic markers of thrombophilia as predictors of outcome in colorectal cancer

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年5月27日

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  • Valéria Tavares,
  • Catarina Lopes,
  • Catarina Macedo-Silva,
  • Mónica Farinha,
  • João Costa,
  • Maria Isabel Vilas-Boas,
  • Sofia Pinelas,
  • Joana Assis,
  • Mário Dinis-Ribeiro,
  • Deolinda Pereira,
  • Carina Pereira,
  • Rui Medeiros

摘要

Colorectal cancer (CRC) is the second leading cause of malignancy-related death worldwide, representing a significant health concern. Understanding the disease pathogenesis and identifying potential prognostic biomarkers is critical for improving patients’ clinical outcomes. Haemostatic components implicated in cancer-associated thrombosis (CAT) seem to favour CRC progression. As such, genetic markers of thrombophilia might be potential prognostic biomarkers among patients with this malignant disease. To offer perspectives, a retrospective cohort study with 204 CRC patients was conducted to investigate the impact of seven germline haemostatic gene determinants on patient prognosis. A sex-stratified analysis was performed as the variants seem to have a distinct influence depending on the patient’s sex. Genomic DNA was extracted from FFPE samples enriched in tumour cells. While the polymorphisms CNTN6 rs6764623 (CC/CA vs. AA; adjusted hazard ratio (aHR) = 0.44; 95% confidence interval (CI), 0.20–0.96; P = 0.040), PTGS2 rs20417 (GG vs. CC/CG; aHR = 2.88; 95%CI, 1.10–7.51; P = 0.031) and RGS7 rs2502448 (TT vs. CT/CC; aHR = 2.35; 95%CI, 1.20–4.61; P = 0.013) were associated with the five-year risk of cancer recurrence, ITGB3 rs5918 was a predictor of the risk of death due to all causes, particularly among male patients (TT vs. CT/CC; aHR = 2.05; 95% confidence interval (CI), 1.13–3.72; P = 0.019). While a sex-specific impact of the SNPs was observed, further investigation in larger cohorts, particularly with an increased representation of female patients, is required to confirm these associations. Collectively, these markers could help improve the prognosis assessment of CRC patients towards a more personalised intervention.

Graphical abstract