Genetic analysis in APC, KRAS, and TP53 in patients with stomach and colon cancer

• Main Authors: K.A. Palacio-Rúa, L.F. Isaza-Jiménez, E. Ahumada-Rodríguez, H. Ceballos-García, C.M. Muñetón-Peña
• Format: Article
• Language: English
• Published: Elsevier 2014-04-01
• Series: Revista de Gastroenterología de México (English Edition)
• Subjects: Stomach cancer; Colorectal cancer; Genetic heterogeneity; Polymorphism; Genetic instability
• Online Access: http://www.sciencedirect.com/science/article/pii/S2255534X14000504

Background: Stomach cancer (SC) and colorectal cancer (CRC) present with high rates of incidence and mortality in the worldwide population. These 2 tumors are characterized by great genetic heterogeneity. Up to now, there have been no molecular studies that analyze the mutations in the APC, KRAS, and TP53 genes in the Colombian/Latin American population. Objectives: To analyze mutations in the APC, KRAS, and TP53 genes through direct sequencing in 59 patients with SC and CRC. Patients and methods: Twenty-nine patients with SC and 30 with CRC were studied. An analysis of the mutations of the 3 genes was carried out using polymerase chain reaction and direct sequencing techniques. Results: A 30.5% total mutation frequency was found. The most frequently mutated gene was APC (15.3%), followed by KRAS (10.1%) and TP53 (5.1%). The CRC samples had a mutation frequency of 46.7% and it was 13.3% in the SC samples (P = .006). No mutations occurred simultaneously in the 3 genes. Mutations in 2 genes were found in only 6 tumor samples (10%). There was also a high frequency of polymorphisms in both types of cancer, the most common of which was the rs41115 polymorphism, located on the APC gene. Conclusion: The APC, KRAS, and TP53 gene mutations were more common in CRC than in SC. Our results suggest the existence of different genetic pathways in the carcinogenesis of SC and CRC and they also reveal a particular mutation frequency in the Colombian patients studied; this could be influenced by factors related to the environment, ethnicity, and lifestyle of this population.