Genetic variations in colorectal cancer risk and clinical outcome

被引：37

作者：

Zhang, Kejin ^{[1
,2
]}

Civan, Jesse ^{[3
]}

Mukherjee, Sushmita ^{[1
]}

Patel, Fenil ^{[1
]}

Yang, Hushan ^{[1
]}

机构：

[1] Thomas Jefferson Univ, Kimmel Canc Ctr, Dept Med Oncol, Div Populat Sci, Philadelphia, PA 19107 USA

[2] NW Univ Xian, Coll Life Sci, Xian 710069, Shaanxi Provinc, Peoples R China

[3] Thomas Jefferson Univ, Dept Med, Div Gastroenterol & Hepatol, Philadelphia, PA 19107 USA

来源：

WORLD JOURNAL OF GASTROENTEROLOGY | 2014年 / 20卷 / 15期

关键词：

Colorectal cancer; Genome-wide association study; Single nucleotide polymorphism; Signal transduction pathways; Cell cycle control; Gene desert; Genome instability; GENOME-WIDE ASSOCIATION; REPLICATION PROTEIN-A; STRANDED-DNA-BINDING; CLEAR-CELL SARCOMA; SUSCEPTIBILITY LOCI; COLON-CANCER; MICROSATELLITE INSTABILITY; CHROMOSOMAL INSTABILITY; PROGNOSTIC MARKERS; SIGNALING PATHWAYS;

D O I：

10.3748/wjg.v20.i15.4167

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

摘要：

Colorectal cancer (CRC) has an apparent hereditary component, as evidenced by the well-characterized genetic syndromes and family history associated with the increased risk of this disease. However, in a large fraction of CRC cases, no known genetic syndrome or family history can be identified, suggesting the presence of "missing heritability" in CRC etiology. The genome-wide association study (GWAS) platform has led to the identification of multiple replicable common genetic variants associated with CRC risk. These newly discovered genetic variations might account for a portion of the missing heritability. Here, we summarize the recent GWASs related to newly identified genetic variants associated with CRC risk and clinical outcome. The findings from these studies suggest that there is a lack of understanding of the mechanism of many single nucleotide polymorphisms (SNPs) that are associated with CRC. In addition, the utility of SNPs as prognostic markers of CRC in clinical settings remains to be further assessed. Finally, the currently validated SNPs explain only a small fraction of total heritability in complex-trait diseases like CRC. Thus, the "missing heritability" still needs to be explored further. Future epidemiological and functional investigations of these variants will add to our understanding of CRC pathogenesis, and may ultimately lead to individualized strategies for prevention and treatment of CRC. (C) 2014 Baishideng Publishing Group Co., Limited. All rights reserved.

引用

页码：4167 / 4177

页数：11

共 73 条

[41] Common Single-Nucleotide Polymorphisms in the Estrogen Receptor β Promoter Are Associated with Colorectal Cancer Survival in Postmenopausal Women [J].

Passarelli, Michael N. ;

Phipps, Amanda I. ;

Potter, John D. ;

Makar, Karen W. ;

Coghill, Anna E. ;

Wernli, Karen J. ;

White, Emily ;

Chan, Andrew T. ;

Hutter, Carolyn M. ;

Peters, Ulrike ;

Newcomb, Polly A. .

CANCER RESEARCH, 2013, 73 (02) :767-775

[42] Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis [J].

Peters, Ulrike ;

Jiao, Shuo ;

Schumacher, Fredrick R. ;

Hutter, Carolyn M. ;

Aragaki, Aaron K. ;

Baron, John A. ;

Berndt, Sonja I. ;

Bezieau, Stephane ;

Brenner, Hermann ;

Butterbach, Katja ;

Caan, Bette J. ;

Campbell, Peter T. ;

Carlson, Christopher S. ;

Casey, Graham ;

Chan, Andrew T. ;

Chang-Claude, Jenny ;

Chanock, Stephen J. ;

Chen, Lin S. ;

Coetzee, Gerhard A. ;

Coetzee, Simon G. ;

Conti, David V. ;

Curtis, Keith R. ;

Duggan, David ;

Edwards, Todd ;

Fuchs, Charles S. ;

Gallinger, Steven ;

Giovannucci, Edward L. ;

Gogarten, Stephanie M. ;

Gruber, Stephen B. ;

Haile, Robert W. ;

Harrison, Tabitha A. ;

Hayes, Richard B. ;

Henderson, Brian E. ;

Hoffmeister, Michael ;

Hopper, John L. ;

Hudson, Thomas J. ;

Hunter, David J. ;

Jackson, Rebecca D. ;

Jee, Sun Ha ;

Jenkins, Mark A. ;

Jia, Wei-Hua ;

Kolonel, Laurence N. ;

Kooperberg, Charles ;

Kuery, Sebastien ;

Lacroix, Andrea Z. ;

Laurie, Cathy C. ;

Laurie, Cecelia A. ;

Le Marchand, Loic ;

Lemire, Mathieu ;

Levine, David .

GASTROENTEROLOGY, 2013, 144 (04) :799-+

[43] Association Between Colorectal Cancer Susceptibility Loci and Survival Time After Diagnosis With Colorectal Cancer [J].

Phipps, Amanda I. ;

Newcomb, Polly A. ;

Garcia-Albeniz, Xabier ;

Hutter, Carolyn M. ;

White, Emily ;

Fuchs, Charles S. ;

Hazra, Aditi ;

Ogino, Shuji ;

Nan, Hongmei ;

Ma, Jing ;

Campbell, Peter T. ;

Figueiredo, Jane C. ;

Peters, Ulrike ;

Chan, Andrew T. .

GASTROENTEROLOGY, 2012, 143 (01) :51-U555

[44] The Chromosomal Instability Pathway in Colon Cancer [J].

Pino, Maria S. ;

Chung, Daniel C. .

GASTROENTEROLOGY, 2010, 138 (06) :2059-2072

[45] Evaluation of the 8q24 Prostate Cancer Risk Locus and MYC Expression [J].

Pomerantz, Mark M. ;

Beckwith, Christine A. ;

Regan, Meredith M. ;

Wyman, Stacia K. ;

Petrovics, Gyorgy ;

Chen, Yongmei ;

Hawksworth, Dorota J. ;

Schumacher, Fredrick R. ;

Mucci, Lorelei ;

Penney, Kathryn L. ;

Stampfer, Meir J. ;

Chan, Jennifer A. ;

Ardlie, Kristin G. ;

Fritz, Brian R. ;

Parkin, Rachael K. ;

Lin, Daniel W. ;

Dyke, Michelle ;

Herman, Paula ;

Lee, Steve ;

Oh, William K. ;

Kantoff, Philip W. ;

Tewari, Muneesh ;

McLeod, David G. ;

Srivastava, Shiv ;

Freedman, Matthew L. .

CANCER RESEARCH, 2009, 69 (13) :5568-5574

[46] Laminin 10/11: an alternative adhesive ligand for epidermal keratinocytes with a functional role in promoting proliferation and migration [J].

Pouliot, N ;

Saunders, NA ;

Kaur, P .

EXPERIMENTAL DERMATOLOGY, 2002, 11 (05) :387-397

[47] Variants on 9p24 and 8q24 are associated with risk of colorectal cancer: Results from the colon cancer family registry [J].

Poynter, Jenny N. ;

Figueiredo, Jane C. ;

Conti, David V. ;

Kennedy, Kathleen ;

Gallinger, Steven ;

Siegnumd, Kimberly D. ;

Casey, Graham ;

Thibodeau, Stephen N. ;

Jenkins, Mark A. ;

Hopper, John L. ;

Byrnes, Graham B. ;

Baron, John A. ;

Goode, Ellen L. ;

Tiirikainen, Maarit ;

Lindor, Noralane ;

Grove, John ;

Newcomb, Polly ;

Jass, Jeremy ;

Young, Joanne ;

Potter, John D. ;

Haile, Robert W. ;

Duggan, David J. ;

Le Marchand, Loic .

CANCER RESEARCH, 2007, 67 (23) :11128-11132

[48] Identification of PITX1 as a TERT Suppressor Gene Located on Human Chromosome 5 [J].

Qi, Dong-Lai ;

Ohhira, Takahito ;

Fujisaki, Chikako ;

Inoue, Toshiaki ;

Ohta, Tsutomu ;

Osaki, Mitsuhiko ;

Ohshiro, Eriko ;

Seko, Tomomi ;

Aoki, Shinsuke ;

Oshimura, Mitsuo ;

Kugoh, Hiroyuki .

MOLECULAR AND CELLULAR BIOLOGY, 2011, 31 (08) :1624-1636

[49] American College of Gastroenterology Guidelines for Colorectal Cancer Screening 2008 [J].

Rex, Douglas K. ;

Johnson, David A. ;

Anderson, Joseph C. ;

Schoenfeld, Phillip S. ;

Burke, Carol A. ;

Inadomi, John M. .

AMERICAN JOURNAL OF GASTROENTEROLOGY, 2009, 104 (03) :739-750

[50] A germline variant in the TP53 polyadenylation signal confers cancer susceptibility [J].

Stacey, Simon N. ;

Sulem, Patrick ;

Jonasdottir, Aslaug ;

Masson, Gisli ;

Gudmundsson, Julius ;

Gudbjartsson, Daniel F. ;

Magnusson, Olafur T. ;

Gudjonsson, Sigurjon A. ;

Sigurgeirsson, Bardur ;

Thorisdottir, Kristin ;

Ragnarsson, Rafn ;

Benediktsdottir, Kristrun R. ;

Nexo, Bjorn A. ;

Tjonneland, Anne ;

Overvad, Kim ;

Rudnai, Peter ;

Gurzau, Eugene ;

Koppova, Kvetoslava ;

Hemminki, Kari ;

Corredera, Cristina ;

Fuentelsaz, Victoria ;

Grasa, Pilar ;

Navarrete, Sebastian ;

Fuertes, Fernando ;

Garcia-Prats, Maria D. ;

Sanambrosio, Enrique ;

Panadero, Angeles ;

De Juan, Ana ;

Garcia, Almudena ;

Rivera, Fernando ;

Planelles, Dolores ;

Soriano, Virtudes ;

Requena, Celia ;

Aben, Katja K. ;

van Rossum, Michelle M. ;

Cremers, Ruben G. H. M. ;

van Oort, Inge M. ;

van Spronsen, Dick-Johan ;

Schalken, Jack A. ;

Peters, Wilbert H. M. ;

Helfand, Brian T. ;

Donovan, Jenny L. ;

Hamdy, Freddie C. ;

Badescu, Daniel ;

Codreanu, Ovidiu ;

Jinga, Mariana ;

Csiki, Irma E. ;

Constantinescu, Vali ;

Badea, Paula ;

Mates, Ioan N. .

NATURE GENETICS, 2011, 43 (11) :1098-U85

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