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
相关论文
共 50 条
  • [31] Mutation profiling of tumor DNA from plasma and tumor tissue of colorectal cancer patients with a novel, high-sensitivity multiplexed mutation detection platform
    Kidess, Evelyn
    Heirich, Kyra
    Wiggin, Matthew
    Vysotskaia, Valentina
    Visser, Brendan C.
    Marziali, Andre
    Wiedenmann, Bertram
    Norton, Jeffrey A.
    Lee, Mark
    Jeffrey, Stefanie S.
    Poultsides, George A.
    ONCOTARGET, 2015, 6 (04) : 2549 - 2561
  • [32] Molecular profile of tumor DNA from patients with metachronous colorectal cancer
    Tapial, S.
    Rueda, D.
    Gomez-Sanchez, D.
    Carrizo, N.
    Rodriguez-Gil, Y.
    Rey, I.
    Perea, J.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 508 - 508
  • [33] Multiplex profiling of tumor-associated proteolytic activity in serum of colorectal cancer patients
    Yepes, Diego
    Costina, Victor
    Pilz, Lothar R.
    Hofheinz, Ralf
    Neumaier, Michael
    Findeisen, Peter
    PROTEOMICS CLINICAL APPLICATIONS, 2014, 8 (5-6) : 308 - 316
  • [34] Detection of tumor-associated KRAS mutations in the plasma and tumor tissue of colorectal cancer patients
    Jeffers, Michael
    Pena, Carol
    Henderson, David
    Wilhelm, Scott
    Christensen, Olaf
    Lathia, Chetan
    MOLECULAR CANCER THERAPEUTICS, 2009, 8 (12)
  • [35] Prognostic value of carcinoembryonic antigen (CEA) in tumor tissue of patients with colorectal cancer
    Nakagoe, T
    Sawai, T
    Tsuji, T
    Ayabe, H
    Nakazaki, T
    Ishikawa, H
    Hatano, K
    Kajiwara, K
    Miyashita, K
    Matsuo, T
    Nogawa, T
    Arisawa, K
    ANTICANCER RESEARCH, 2001, 21 (4B) : 3031 - 3036
  • [36] Relative telomere length in tumor tissue and adjacent mucosa of colorectal cancer patients
    Kroupa, Michal
    Liska, Vaclav
    Rachakonda, Krishna
    Urbanova, Marketa
    Schneiderova, Michaela
    Jiraskova, Katerina
    Vycital, Ondrej
    Vodickova, Ludmila
    Kumar, Rajiv
    Vodicka, Pavel
    CANCER RESEARCH, 2018, 78 (13)
  • [37] Molecular profiling of colorectal cancer: Does it apply clinically?
    Kheirelseid, E. A. H.
    Miller, N.
    Chang, K. H.
    McAnena, O. J.
    Regan, M.
    Kerin, M. J.
    BRITISH JOURNAL OF SURGERY, 2011, 98 : 11 - 11
  • [38] Molecular Profiling of Brain Metastases from Colorectal Cancer
    De Maglio, G.
    Lutrino, E. S.
    Cernic, S.
    Tuniz, F.
    Casagrande, M.
    Falconieri, G.
    Aprile, G.
    Skrap, M.
    Fasola, G.
    Pizzolitto, S.
    MODERN PATHOLOGY, 2012, 25 : 429A - 430A
  • [39] Application of Molecular Profiling in Colorectal Cancer Surgery Preface
    Ding, Pei-Rong
    CLINICS IN COLON AND RECTAL SURGERY, 2023, 36 (06) : 367 - 368
  • [40] Molecular profiling in the treatment of colorectal cancer: focus on regorafenib
    Yan, Yiyi
    Grothey, Axel
    ONCOTARGETS AND THERAPY, 2015, 8 : 2949 - 2957