Genetic risk of subsequent esophageal cancer in lymphoma and breast cancer long-term survival patients: a pilot study

Pharmacogenomics J. 2016 Jun;16(3):266-71. doi: 10.1038/tpj.2015.41. Epub 2015 Jun 9.

Abstract

The occurrence of a second primary esophageal carcinoma (EC) in long-term cancer survivors may represent a late effect of previous radio-chemotherapeutic treatment. To identify the genetic factors that could increase this risk, we analyzed nine variants within ERCC1, XPD, XRCC1 and XRCC3 DNA repair pathway genes, and GSTP1, TP53 and MDM2 genes in 61 patients who received radio-chemotherapy for a prior lymphoma or breast cancer; 29 of them had a second primary EC. This cohort consists of 22 esophageal squamous cell carcinoma (ESCC) and 7 esophageal adenocarcinoma (EADC) patients. A validation cohort of 154 patients with sporadic EC was also included. The XPD Asp312Asn (rs1799793) was found to be associated with the risk of developing second primary ESCC (P=0.015). The resultant variant was also involved in the onset of sporadic ESCC (P=0.0018). To know in advance who among long-term cancer survivors have an increased risk of EC could lead to a more appropriate follow-up strategy.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenocarcinoma / diagnosis
  • Adenocarcinoma / genetics*
  • Biomarkers, Tumor / genetics*
  • Breast Neoplasms / pathology
  • Breast Neoplasms / therapy*
  • Carcinoma, Squamous Cell / diagnosis
  • Carcinoma, Squamous Cell / genetics*
  • Case-Control Studies
  • Chemoradiotherapy*
  • Esophageal Neoplasms / diagnosis
  • Esophageal Neoplasms / genetics*
  • Esophageal Squamous Cell Carcinoma
  • Female
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Genetic Variation*
  • Humans
  • Lymphoma / diagnosis
  • Lymphoma / therapy*
  • Male
  • Neoplasms, Second Primary / diagnosis
  • Neoplasms, Second Primary / genetics*
  • Phenotype
  • Pilot Projects
  • Risk Factors
  • Survivors*
  • Time Factors
  • Treatment Outcome
  • Xeroderma Pigmentosum Group D Protein / genetics*

Substances

  • Biomarkers, Tumor
  • Xeroderma Pigmentosum Group D Protein
  • ERCC2 protein, human

Supplementary concepts

  • Adenocarcinoma Of Esophagus