Card15 mutations and gastric cancer in a Portuguese population. (October 2013)

• Record Type: Journal Article
• Authors: Freire, Paulo; Figueiredo, Pedro; Cardoso, Ricardo; Donato, Maria M.; Sá, Anabela; Portela, Francisco; Romãozinho, José M.; Sofia, Carlos
• Is Part Of: Scandinavian journal of gastroenterology. Volume 48:Number 10(2013)
• Page Start: 1188
• Page End: 1197
• Publication Date: 2013-10
• Subjects: Gastroenterology -- Periodicals; Digestive organs -- Diseases -- Periodicals; 616.33
• DOI: 10.3109/00365521.2013.832370
• Languages: English
• ISSNs: 0036-5521

Abstract

<abstract> <title>Abstract</title> <p> <bold> <italic>Background.</italic> </bold> <italic>CARD15</italic> is involved in the innate immune response and mutations of this gene have been linked with increased risk of Crohn's disease and colorectal cancer. The relation between <italic>CARD15</italic> mutations and gastric cancer (GC) remains controversial. <bold><italic>Aims.</italic></bold> To assess whether <italic>CARD15</italic> mutations are risk factors for GC in Portugal and whether there are genotype–phenotype correlations in these patients. <bold><italic>Methods.</italic></bold> The 3 main <italic>CARD15</italic> mutations (3020insC, R702W and G908R) were searched in 150 patients with GC and in 202 healthy controls. <bold><italic>Results.</italic></bold> Overall, <italic>CARD15</italic> mutations were found in 28 patients (18.7%) and in 27 controls (13.4%) (<italic>p</italic> = 0.176). Individually, the incidence of 3020insC was significantly higher in patients than in controls (6.0% vs. 1.0%, <italic>p</italic> = 0.021). This polymorphism was linked with an increased risk for the intestinal-type of GC (<italic>p</italic> = 0.002), while no association was found with the diffuse and/or mixed types. Genotype frequencies for R702W (10.0% vs. 7.9%) and G908R (4.0% vs. 4.0%) were not statistically different between the two groups. Similarly, no significant associations were detected between these two polymorphisms and the different histological GC types. No correlations were observed between <italic>CARD15</italic> mutations and family history, mean age at diagnosis or GC stage. <bold><italic>Conclusions. </italic></bold>The <italic>CARD15</italic> 3020insC variant is a risk factor for intestinal GC in Portugal. <italic>CARD15</italic> variants are not correlated with age of diagnosis or family aggregation of the disease neither with the GC stage.</p> </abstract>