3020insC NOD2/CARD15 polymorphism associated with treatment of colorectal cancer

被引:11
作者
Omrane, Ines [1 ]
Mezlini, Amel [2 ]
Baroudi, Olfa [1 ]
Stambouli, Nejla [1 ]
Bougatef, Karim [1 ]
Ayari, Hager [1 ]
Medimegh, Imen [1 ]
Bouzaienne, Hassen [1 ]
Uhrhammer, Nancy [3 ]
Bignon, Yves-Jean [3 ]
Benammar-Elgaaied, Amel [1 ]
Marrakchi, Raja [1 ]
机构
[1] Univ Tunis EL Manar, Lab Human Genet Immunol & Pathol, Fac Sci Tunis EL Manar, Tunis 2092, Tunisia
[2] Salah Azaiez Hosp Tunis, Gastroenterol Serv, Tunis, Tunisia
[3] Ctr Jean Perrin, Lab Diag & Mol Genet, Clermont Ferrand, France
关键词
NOD2/CARD15; 3020insC; Colorectal cancer; Crohn's disease; Association; Treatment; Chemotherapy; CROHNS-DISEASE; INNATE IMMUNITY; GENE POLYMORPHISMS; HUNGARIAN PATIENTS; NOD2; 3020INSC; SUSCEPTIBILITY; VARIANTS; RISK; MUTATIONS; INFLAMMATION;
D O I
10.1007/s12032-014-0954-z
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
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.
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页数:6
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