Card15mutations and gastric cancer in a Portuguese population

Abstract

BACKGROUND. CARD15 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 CARD15 mutations and gastric cancer (GC) remains controversial. AIMS. To assess whether CARD15 mutations are risk factors for GC in Portugal and whether there are genotype-phenotype correlations in these patients. METHODS. The 3 main CARD15 mutations (3020insC, R702W and G908R) were searched in 150 patients with GC and in 202 healthy controls. RESULTS. Overall, CARD15 mutations were found in 28 patients (18.7%) and in 27 controls (13.4%) (p = 0.176). Individually, the incidence of 3020insC was significantly higher in patients than in controls (6.0% vs. 1.0%, p = 0.021). This polymorphism was linked with an increased risk for the intestinal-type of GC (p = 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 CARD15 mutations and family history, mean age at diagnosis or GC stage. CONCLUSIONS. The CARD15 3020insC variant is a risk factor for intestinal GC in Portugal. CARD15 variants are not correlated with age of diagnosis or family aggregation of the disease neither with the GC stage.

Susceptibility To Breast Cancer And Intron 3 Ins/Del Genetic Polymorphism Of DNA Double-Strand Break Repair Gene XRCC4

“…It is suggested that susceptibility to breast cancer and age at diagnosis of breast cancer are different multifactorial traits. There were other reports that indicated that specific polymorphisms may be associated with risk of a disease or the age at which the disease is diagnosed ( 12 , 13 ).…”

Correlation of NOD2 genotypes with Helicobacter pylori infection in a South‐European country

“…16 Our group already proved that L1007fsinsC variant is a risk factor for intestinal-type GC in Portugal. 12 However, in this work, it was not possible to evaluate the potential correlation of H. pylori infection with NOD2 genetic patterns.…”

“…The NOD2 gene, also called CARD15 (caspase recruitment domain family 15) can have an important role in H. pylori infection and GC. 6,10,12,13 Presence of polymorphisms in this gene have been associated with increased risk for gastrointestinal cancer although a recent general population study involving a large number of individuals did not confirm this correlation. 10,14 Another study even detected a negative association between some NOD2 polymorphisms and the risk of GC.…”

Nuevas aproximaciones en el estudio de la ruta autofágica en cáncer colorrectal

“…El estudio en pacientes con SL, PAF y CCR esporádico no reveló diferencias estadísticamente significativas con el grupo control en ninguna de las variantes estudiadas. Estos polimorfismos también se han evaluado en pacientes diagnosticados con cáncer gástrico sin observar asociaciones entre las variantes y la aparición de la enfermedad (157). Sin embargo, estas variantes se han asociado con la enfermedad de Crohn ( 157), colitis ulcerosa (159) y el cáncer colorrectal, aunque en este último caso hay informaciones contradictorias respecto al alelo que aumenta la susceptibilidad (160).…”

“…Estos polimorfismos también se han evaluado en pacientes diagnosticados con cáncer gástrico sin observar asociaciones entre las variantes y la aparición de la enfermedad (157). Sin embargo, estas variantes se han asociado con la enfermedad de Crohn ( 157), colitis ulcerosa (159) y el cáncer colorrectal, aunque en este último caso hay informaciones contradictorias respecto al alelo que aumenta la susceptibilidad (160). En un reciente meta-análisis en el que se incluyen las variantes estudiadas en este trabajo se obseva una asociación con el incremento del riesgo de padecer cáncer gastrointestinal.…”