3020insC NOD2/CARD15 polymorphism associated with treatment of colorectal cancer.
Chronic inflammation is closely linked to cancer. The risk of damage by colorectal cancer (CRC) may increase due to autoimmune disease and cryptogenic inflammation. Therefore, genetic factors implicated in the chronic irritation in inflammatory bowel disease such as NOD2/CARD15 may predispose to CRC. In this report, we shed the light on the possible contribution of the NOD2 3020insC variant to CRC risk in a series of 246 Tunisian subjects including 101 patients with CRC and 145 healthy controls. NOD2/CARD15 polymorphism was genotyped by sizing fluorescently labeled PCR products and automated sequencers. We analyzed the association between the molecular features at this gene in relation to tumor and patient characteristics and treatments. Through this qualitative analysis, we found that CRC patients with mutant allele of NOD2/CARD15 were suffering from Crohn's disease (CD) with canonic presentation. We also observed a positive association between 3020insC polymorphism and surgery and chemotherapy. We suppose that around 3% of colorectal cases which happen at an age older than 50 years are associated with the canonic form of CD along with the 3020insC mutation and that these patients are in need for chemotherapy.
Laboratory of Human Genetics Immunology and Pathology, Faculty of Sciences Tunis El Manar, University of Tunis EL Manar, 2092, Tunis, Tunisia, inesomrane@hotmail.fr.
Inés
I
Omrane
Amel
A
Mezlini
Olfa
O
Baroudi
Nejla
N
Stambouli
Karim
K
Bougatef
Hager
H
Ayari
Imen
I
Medimegh
Hassen
H
Bouzaienne
Nancy
N
Uhrhammer
Yves-Jean
YJ
Bignon
Amel
A
Benammar-Elgaaied
Raja
R
Marrakchi
D014408:Biomarkers, Tumor / Q000235:genetics*; D016022:Case-Control Studies; D015179:Colorectal Neoplasms / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D003131:Combined Modality Therapy; D005260:Female; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D016254:Mutagenesis, Insertional / Q000235:genetics*; D009362:Neoplasm Metastasis; D009367:Neoplasm Staging; D053473:Nod2 Signaling Adaptor Protein / Q000235:genetics*; D010641:Phenotype; D011110:Polymorphism, Genetic / Q000235:genetics*; D011379:Prognosis; D014416:Tunisia
D014408:Biomarkers, Tumor; C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein