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Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
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Related Experiment Video

Updated: Mar 7, 2026

Author Spotlight: Genetic Profiling for Fluorouracil Response in Gastric Cancer
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Investigating Genetic Risk to Oxaliplatin-Induced Sinusoidal Obstruction Syndrome in Colorectal Cancer Through

Mengxue Zhang1, Peng Wang1, Yang Kong1

  • 1Department of Pathology, University of Chicago, Chicago, Illinois.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc
|March 5, 2026
PubMed
Summary
This summary is machine-generated.

Single nucleotide polymorphisms (SNPs) may influence oxaliplatin toxicity. The ERCC1 rs11615 (A>G) variant appears protective against sinusoidal obstruction syndrome (SOS), suggesting personalized chemotherapy monitoring for colorectal cancer patients.

Keywords:
colorectal cancerhepatic sinusoidal obstruction syndromenext-generation sequencingpharmacogeneticssingle-nucleotide polymorphism

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Area of Science:

  • Pharmacogenomics
  • Oncology
  • Hepatology

Background:

  • Sinusoidal obstruction syndrome (SOS) is a severe complication of oxaliplatin chemotherapy.
  • Genetic variations, particularly single nucleotide polymorphisms (SNPs), are increasingly recognized as factors influencing drug toxicity.
  • Personalizing chemotherapy based on genetic profiles can mitigate adverse events.

Purpose of the Study:

  • To investigate the association between candidate SNPs and oxaliplatin-induced SOS in colorectal cancer (CRC) patients.
  • To evaluate the utility of analyzing routinely available next-generation sequencing (NGS) data for predicting SOS risk.
  • To identify specific genetic markers that may predispose or protect against SOS.

Main Methods:

  • Retrospective analysis of 79 colorectal cancer cases with liver metastases and available NGS data.
  • Clinical, biochemical, and histological data were used to confirm SOS in 12 cases and select 10 controls.
  • NGS data was reanalyzed to assess 12 polymorphisms in genes associated with oxaliplatin toxicity, including ERCC1, using statistical analyses like Fisher's exact test and odds ratios.

Main Results:

  • The ERCC1 rs11615 (A>G) polymorphism showed a significant association with SOS, with an odds ratio of 0.15, indicating a protective effect (allelic p-value=0.006).
  • Patients with the ERCC1 rs11615 (A>G) variant were less likely to develop SOS.
  • While numerical increases in ascites, liver enzymes (AST, ALT), and neuropathy were observed in the SOS group, these did not reach statistical significance.

Conclusions:

  • The ERCC1 rs11615 (A>G) variant may confer protection against oxaliplatin-induced SOS.
  • Routine analysis of NGS data can aid in identifying patients at risk for or protected from chemotherapy-related toxicities.
  • Patients lacking the protective ERCC1 rs11615 (A>G) allele may require closer monitoring during oxaliplatin treatment.