The genetic and epigenetic landscape of early-onset colorectal cancer

被引:15
作者
Boland, C. Richard [1 ]
Goel, Ajay [2 ,3 ]
Patel, Swati G. [4 ]
机构
[1] Univ Calif San Diego, Sch Med, Med, La Jolla, CA 92093 USA
[2] City Hope Comprehens Canc Ctr, Beckman Res Inst, Dept Mol Diagnost & Expt Therapeut, Monrovia, CA 91016 USA
[3] City Hope Comprehens Canc Ctr, Beckman Res Inst, Biotech Innovat, Monrovia, CA 91016 USA
[4] Univ Colorado, Sch Med, Rocky Mt Reg Vet Affairs Med Ctr, Med Gastroenterol, Aurora, CO USA
关键词
early-onset colorectal cancer; epigenetics; familial cancer; genetics; LINE-1; hypomethylation; Lynch syndrome; MISMATCH-REPAIR DEFICIENCY; MICROSATELLITE INSTABILITY; YOUNG-PATIENTS; LYNCH SYNDROME; HEREDITARY; MUTATIONS; FEATURES; PREVALENCE; GERMLINE; CRITERIA;
D O I
10.2217/crc-2020-0005
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
Colorectal cancer (CRC) in individuals under the age of 50 is a problem that is increasing in USA and around the world. In this review, we discuss the degree to which early-onset (EO)CRC may be due to unsuspected Lynch syndrome or other inherited germline variants that predispose to cancer, describe the known somatic genetic alterations in EO tumors and discuss alterations in DNA methylation. Approximately 20% of EOCRCs can be attributed to identifiable germline mutations in genes that cause familial cancer syndromes. A variety of other genetic/epigenetic alterations have also been reported. We conclude that this is a heterogeneous problem, that requires a comprehensive analysis of genetic/epigenetic signatures to better understand EOCRC. Various subsets of EOCRCs must be analyzed individually for clues regarding the etiologies and possible specific therapies for this disease.
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页数:14
相关论文
共 63 条
[1]   CLUES TO THE PATHOGENESIS OF FAMILIAL COLORECTAL-CANCER [J].
AALTONEN, LA ;
PELTOMAKI, P ;
LEACH, FS ;
SISTONEN, P ;
PYLKKANEN, L ;
MECKLIN, JP ;
JARVINEN, H ;
POWELL, SM ;
JEN, J ;
HAMILTON, SR ;
PETERSEN, GM ;
KINZLER, KW ;
VOGELSTEIN, B ;
DELACHAPELLE, A .
SCIENCE, 1993, 260 (5109) :812-816
[2]   The repertoire of mutational signatures in human cancer [J].
Alexandrov, Ludmil B. ;
Kim, Jaegil ;
Haradhvala, Nicholas J. ;
Huang, Mi Ni ;
Ng, Alvin Wei Tian ;
Wu, Yang ;
Boot, Arnoud ;
Covington, Kyle R. ;
Gordenin, Dmitry A. ;
Bergstrom, Erik N. ;
Islam, S. M. Ashiqul ;
Lopez-Bigas, Nuria ;
Klimczak, Leszek J. ;
McPherson, John R. ;
Morganella, Sandro ;
Sabarinathan, Radhakrishnan ;
Wheeler, David A. ;
Mustonen, Ville ;
Getz, Gad ;
Rozen, Steven G. ;
Stratton, Michael R. .
NATURE, 2020, 578 (7793) :94-+
[3]   Signatures of mutational processes in human cancer [J].
Alexandrov, Ludmil B. ;
Nik-Zainal, Serena ;
Wedge, David C. ;
Aparicio, Samuel A. J. R. ;
Behjati, Sam ;
Biankin, Andrew V. ;
Bignell, Graham R. ;
Bolli, Niccolo ;
Borg, Ake ;
Borresen-Dale, Anne-Lise ;
Boyault, Sandrine ;
Burkhardt, Birgit ;
Butler, Adam P. ;
Caldas, Carlos ;
Davies, Helen R. ;
Desmedt, Christine ;
Eils, Roland ;
Eyfjord, Jorunn Erla ;
Foekens, John A. ;
Greaves, Mel ;
Hosoda, Fumie ;
Hutter, Barbara ;
Ilicic, Tomislav ;
Imbeaud, Sandrine ;
Imielinsk, Marcin ;
Jaeger, Natalie ;
Jones, David T. W. ;
Jones, David ;
Knappskog, Stian ;
Kool, Marcel ;
Lakhani, Sunil R. ;
Lopez-Otin, Carlos ;
Martin, Sancha ;
Munshi, Nikhil C. ;
Nakamura, Hiromi ;
Northcott, Paul A. ;
Pajic, Marina ;
Papaemmanuil, Elli ;
Paradiso, Angelo ;
Pearson, John V. ;
Puente, Xose S. ;
Raine, Keiran ;
Ramakrishna, Manasa ;
Richardson, Andrea L. ;
Richter, Julia ;
Rosenstiel, Philip ;
Schlesner, Matthias ;
Schumacher, Ton N. ;
Span, Paul N. ;
Teague, Jon W. .
NATURE, 2013, 500 (7463) :415-+
[4]   Clinical and Molecular Comparative Study of Colorectal Cancer Based on Age-of-Onset and Tumor Location: Two Main Criteria for Subclassifying Colorectal Cancer [J].
Alvaro, Edurne ;
Cano, Juana M. ;
Garcia, Juan L. ;
Brandariz, Lorena ;
Olmedillas-Lopez, Susana ;
Arriba, Maria ;
Rueda, Daniel ;
Rodriguez, Yolanda ;
Canete, Angel ;
Arribas, Julia ;
Inglada-Perez, Lucia ;
Perez, Jessica ;
Gomez, Carlos ;
Garcia-Arranz, Mariano ;
Garcia-Olmo, Damian ;
Goel, Ajay ;
Urioste, Miguel ;
Gonzalez-Sarmiento, Rogelio ;
Perea, Jose .
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2019, 20 (04)
[5]   A High Degree of LINE-1 Hypomethylation Is a Unique Feature of Early-Onset Colorectal Cancer [J].
Antelo, Marina ;
Balaguer, Francesc ;
Shia, Jinru ;
Shen, Yan ;
Hur, Keun ;
Moreira, Leticia ;
Cuatrecasas, Miriam ;
Bujanda, Luis ;
Dolores Giraldez, Maria ;
Takahashi, Masanobu ;
Cabanne, Ana ;
Edmundo Barugel, Mario ;
Arnold, Mildred ;
Luis Roca, Enrique ;
Andreu, Montserrat ;
Castellvi-Bel, Sergi ;
Llor, Xavier ;
Jover, Rodrigo ;
Castells, Antoni ;
Boland, C. Richard ;
Goel, Ajay .
PLOS ONE, 2012, 7 (09)
[6]   Unsupervised Analysis of Array Comparative Genomic Hybridization Data from Early-Onset Colorectal Cancer Reveals Equivalence with Molecular Classification and Phenotypes [J].
Arriba, Mar-A ;
Garcia, Juan L. ;
Rueda, Daniel ;
Perez, Jessica ;
Brandariz, Lorena ;
Nutu, Oana A. ;
Alonso, Laura ;
Rodriguez, Yolanda ;
Urioste, Miguel ;
Gonzalez-Sarmiento, Rogelio ;
Perea, Jose .
NEOPLASIA, 2017, 19 (01) :28-34
[7]   DNA copy number profiling reveals different patterns of chromosomal instability within colorectal cancer according to the age of onset [J].
Arriba, Maria ;
Garcia, Juan L. ;
Inglada-Perez, Lucia ;
Rueda, Daniel ;
Osorio, Irene ;
Rodriguez, Yolanda ;
Alvaro, Edurne ;
Sanchez, Ricard ;
Fernandez, Tamara ;
Perez, Jessica ;
Hernandez, Jesus M. ;
Benitez, Javier ;
Gonzalez-Sarmiento, Rogelio ;
Urioste, Miguel ;
Perea, Jose .
MOLECULAR CARCINOGENESIS, 2016, 55 (05) :705-716
[8]   Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project [J].
Birney, Ewan ;
Stamatoyannopoulos, John A. ;
Dutta, Anindya ;
Guigo, Roderic ;
Gingeras, Thomas R. ;
Margulies, Elliott H. ;
Weng, Zhiping ;
Snyder, Michael ;
Dermitzakis, Emmanouil T. ;
Stamatoyannopoulos, John A. ;
Thurman, Robert E. ;
Kuehn, Michael S. ;
Taylor, Christopher M. ;
Neph, Shane ;
Koch, Christoph M. ;
Asthana, Saurabh ;
Malhotra, Ankit ;
Adzhubei, Ivan ;
Greenbaum, Jason A. ;
Andrews, Robert M. ;
Flicek, Paul ;
Boyle, Patrick J. ;
Cao, Hua ;
Carter, Nigel P. ;
Clelland, Gayle K. ;
Davis, Sean ;
Day, Nathan ;
Dhami, Pawandeep ;
Dillon, Shane C. ;
Dorschner, Michael O. ;
Fiegler, Heike ;
Giresi, Paul G. ;
Goldy, Jeff ;
Hawrylycz, Michael ;
Haydock, Andrew ;
Humbert, Richard ;
James, Keith D. ;
Johnson, Brett E. ;
Johnson, Ericka M. ;
Frum, Tristan T. ;
Rosenzweig, Elizabeth R. ;
Karnani, Neerja ;
Lee, Kirsten ;
Lefebvre, Gregory C. ;
Navas, Patrick A. ;
Neri, Fidencio ;
Parker, Stephen C. J. ;
Sabo, Peter J. ;
Sandstrom, Richard ;
Shafer, Anthony .
NATURE, 2007, 447 (7146) :799-816
[9]   Higher frequency of diploidy in young-onset microsatellite-stable colorectal cancer [J].
Boardman, Lisa A. ;
Johnson, Ruth A. ;
Petersen, Gloria M. ;
Oberg, Ann L. ;
Kabat, Brian F. ;
Slusser, Joshua P. ;
Wang, Liang ;
Morlan, Bruce W. ;
French, Amy J. ;
Smyrk, Thomas C. ;
Lindor, Noralane M. ;
Thibodeau, Stephen N. .
CLINICAL CANCER RESEARCH, 2007, 13 (08) :2323-2328
[10]   Non-coding RNA: It's Not Junk [J].
Boland, C. Richard .
DIGESTIVE DISEASES AND SCIENCES, 2017, 62 (05) :1107-1109