Molecular Profiling of Tumor Tissue in Mexican Patients with Colorectal Cancer

被引:0
作者
Flores-Lopez, Beatriz Armida [1 ]
Ayala-Madrigal, Maria de la Luz [1 ]
Moreno-Ortiz, Jose Miguel [1 ]
Peregrina-Sandoval, Jorge [2 ]
Trujillo-Rojas, Miguel Angel [1 ]
Venegas-Rodriguez, Jose Luis [1 ]
Hernandez-Ramirez, Rosario [1 ]
Fernandez-Galindo, Martha Alejandra [1 ]
Gutierrez-Angulo, Melva [1 ,3 ]
机构
[1] Univ Guadalajara, Ctr Univ Ciencias Salud, Dept Biol Mol & Genom, Doctorado Genet Humana & Inst Genet Humana Dr Enr, Guadalajara 44340, Jalisco, Mexico
[2] Univ Guadalajara, Dept Biol Celular & Mol, Ctr Univ Ciencias Biol & Agropecuarias, Guadalajara 45200, Jalisco, Mexico
[3] Univ Guadalajara, Dept Ciencias Salud, Ctr Univ los Altos, Guadalajara 44340, Jalisco, Mexico
关键词
colorectal cancer; massive parallel sequencing; pathogenic variant; likely pathogenic variant; somatic variants; exome sequencing; genetics; molecular pathways; MUTATIONS; REPAIR;
D O I
10.3390/cimb44080258
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Colorectal cancer is a heterogeneous disease with multiple genomic changes that influence the clinical management of patients; thus, the search for new molecular targets remains necessary. The aim of this study was to identify genetic variants in tumor tissues from Mexican patients with colorectal cancer, using massive parallel sequencing. A total of 4813 genes were analyzed in tumoral DNA from colorectal cancer patients, using the TruSight One Sequencing panel. From these, 192 variants with clinical associations were found distributed in 168 different genes, of which 46 variants had not been previous reported in the literature or databases, although genes harboring those variants had already been described in colorectal cancer. Enrichment analysis of the affected genes was performed using Reactome software; pathway over-representation showed significance for disease, signal transduction, and immune system subsets in all patients, while exclusive subsets such as DNA repair, autophagy, and RNA metabolism were also found. Those characteristics, whether individual or shared, could give tumors specific capabilities for survival, aggressiveness, or response to treatment. Our results can be useful for future investigations targeting specific characteristics of tumors in colorectal cancer patients. The identification of exclusive or common pathways in colorectal cancer patients could be important for better diagnosis and personalized cancer treatment.
引用
收藏
页码:3770 / 3778
页数:9
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