ArticleInternational journal of colorectal disease2010
CARD15 mutations and colorectal cancer in a South European country.
Article in International journal of colorectal disease, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.
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Who cites it
10 citing papers in PubMed, 1 synthesis or guideline pooled it, 16 citations in OpenAlex.
- Pooled it
- Review
- Low-Penetrance Susceptibility Variants in Colorectal Cancer-Current Outlook in the Field.International journal of molecular sciences · 2024Review
- Gut Microbiota, Inflammatory Bowel Disease, and Cancer: The Role of Guardians of Innate Immunity.Cells · 2023Review
- Polymorphisms in autophagy genes are genetic susceptibility factors in glioblastoma development.BMC cancer · 2022Article
- Colorectal carcinoma in the course of inflammatory bowel diseases.Hereditary cancer in clinical practice · 2019Review
- NOD2 Expression in Intestinal Epithelial Cells Protects Toward the Development of Inflammation and Associated Carcinogenesis.Cellular and molecular gastroenterology and hepatology · 2019Review
- NOD2 mutations and colorectal cancer - Where do we stand?World journal of gastrointestinal surgery · 2016Review
- Inherited variation in pattern recognition receptors and cancer: dangerous liaisons?Cancer management and research · 2012Article
- The Association between Nod2 R702w Polymorphism and Susceptibility to Colorectal Cancer in Romanian Patients.Current health sciences journalArticle
Corrections and comments
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeCARD15 mutations are associated with higher susceptibility to Crohn's disease (CD) and longstanding colonic CD increases the risk of developing colorectal cancer (CRC). The relation between these mutations and sporadic CRC remains controversial. The aim of this study was to assess whether germline and/or somatic CARD15 mutations are risk factors for sporadic CRC in Portugal and whether there are genotype-phenotype correlations in these patients.
methodsThe three main CARD15 mutations (R702W, G908R and 3020insC) were researched in 112 sporadic CRC patients and 152 healthy subjects.
resultsOverall, CARD15 mutations were found in 18 patients (16.1%) and in 15 controls (9.9%; p = 0.132). Individually, the incidence of R702W was significantly higher in patients than in controls (12.5% vs. 5.3%, p = 0.035), whereas the genotype frequencies for G908R (2.7% vs. 3.3%) and 3020insC (0.9% vs. 1.3%) were not statistically different between the two groups. Entire genotypic agreement was found in patients genotyped for blood and neoplastic DNA. A significantly higher incidence of CARD15 mutations was detected in patients with CRC diagnosed under 60 years old (28.6% vs. 10.4%, p = 0.015) and in female patients (24.4% vs. 10.4%, p = 0.048). No associations were found between CARD15 mutations and family history, symptoms or CRC pathologic characteristics.
conclusionsThe CARD15 R702W variant might be a predisposing factor to sporadic CRC in Portugal, particularly in patients under 60-years old and in female patients. This susceptibility appears to be linked with germline CARD15 mutations. Nevertheless, we have found no evidence that CARD15 mutations predict the pathologic characteristics of CRC.
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