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Card15 mutations and gastric cancer in a Portuguese population

Paulo Freire1, Pedro Figueiredo, Ricardo Cardoso

  • 1Department of Gastroenterology, Centro Hospitalar e Universitário de Coimbra , Coimbra , Portugal.

Scandinavian Journal of Gastroenterology
|September 20, 2013
PubMed

Insights

The CARD15 3020insC gene variant increases the risk for intestinal gastric cancer (GC) in Portugal. Other CARD15 mutations showed no significant association with GC risk or disease characteristics.

Area of Science:

  • Genetics
  • Immunology
  • Oncology

Background:

  • CARD15 is crucial for innate immunity, with mutations linked to Crohn's disease and colorectal cancer.
  • The association between CARD15 mutations and gastric cancer (GC) risk is debated.
  • This study investigates CARD15 mutations as potential risk factors for GC in Portugal.

Purpose of the Study:

  • To determine if CARD15 mutations are risk factors for gastric cancer in the Portuguese population.
  • To explore genotype-phenotype correlations in gastric cancer patients with CARD15 mutations.

Main Methods:

  • Genotyping of three common CARD15 mutations (3020insC, R702W, G908R) in 150 GC patients and 202 healthy controls.
  • Statistical analysis to compare mutation frequencies and assess associations with GC type, stage, and clinical factors.

Main Results:

  • Overall CARD15 mutation frequency did not differ significantly between GC patients and controls (18.7% vs. 13.4%).
  • The 3020insC variant was significantly more prevalent in GC patients (6.0% vs. 1.0%) and specifically associated with intestinal-type GC.
  • No significant associations were found for R702W and G908R mutations with GC risk or histological subtypes. No correlations with family history, age, or GC stage were observed.

Conclusions:

  • The CARD15 3020insC variant represents a risk factor for intestinal gastric cancer in Portugal.
  • CARD15 mutations are not associated with age of diagnosis, family history, or disease stage in gastric cancer patients.

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