Somatic mutations to CSMD1 in colorectal adenocarcinomas

被引:35
作者
Farrell, Christopher L. [1 ,2 ]
Crimm, Hampton [1 ,2 ]
Meeh, Paul [1 ,2 ]
Croshaw, Randal [1 ,2 ,3 ]
Barbar, Thomas D. [4 ,5 ]
Vandersteenhoven, Jacob J. [6 ]
Butler, William [7 ]
Buckhaults, Phillip [1 ,2 ]
机构
[1] Univ S Carolina, Sch Med, Dept Pathol Microbiol & Immunol, Columbia, SC 29203 USA
[2] Univ S Carolina, Sch Med, S Carolina Canc Ctr, Columbia, SC 29203 USA
[3] Univ S Carolina, Sch Med, Dept Surg, Columbia, SC 29203 USA
[4] Sidney Kimmel Comprehens Canc Ctr Johns Hopkins, Ludwig Ctr, Baltimore, MD USA
[5] Sidney Kimmel Comprehens Canc Ctr Johns Hopkins, Howard Hughes Med Inst, Baltimore, MD USA
[6] Palmento Hlth Richland Mem Hosp, Profess Pathol Serv, PC, Columbia, SC USA
[7] S Carolina Oncol Assoc, Columbia, SC USA
关键词
CSMD1; colorectal; adenocarcinomas; cancer; 8p; mutation; metastasis;
D O I
10.4161/cbt.7.4.5623
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
The short arm of chromosome 8 is frequently deleted in advanced human colorectal cancers, suggesting the presence of one or more tumor suppressor genes having a major role in tumor progression and metastasis. Comprehensive sequencing of over 18,000 genes in colon and breast cancers identified somatic mutations in CUB and Sushi Multiple Domains 1 Gene (CSMD1) which is located on the p arm of chromosome 8. In this report, we describe a novel, robust, high-throughput gene mutation profiling strategy based on massively parallel picotiter plate pyrosequencing and have used this approach to identify additional somatic mutations to CSMD1 in early and late stage colorectal cancers. Using this strategy, we identified five nonsynonymous somatic mutations in CSMD1 among 26 colorectal cancers. Interestingly, these mutations occurred predominantly in advanced colorectal tumors, suggesting a role for CSMD1 in the development of late-stage metastatic disease.
引用
收藏
页码:609 / 613
页数:5
相关论文
共 15 条
[1]  
Anbazhagan R, 1998, AM J PATHOL, V152, P815
[2]   The order of genetic events associated with colorectal cancer progression inferred from meta-analysis of copy number changes [J].
Diep, CB ;
Kleivi, K ;
Ribeiro, FR ;
Teixeira, MR ;
Lindgjaerde, OC ;
Lothe, RA .
GENES CHROMOSOMES & CANCER, 2006, 45 (01) :31-41
[3]  
Forozan F, 2000, CANCER RES, V60, P4519
[4]   Patterns of somatic mutation in human cancer genomes [J].
Greenman, Christopher ;
Stephens, Philip ;
Smith, Raffaella ;
Dalgliesh, Gillian L. ;
Hunter, Christopher ;
Bignell, Graham ;
Davies, Helen ;
Teague, Jon ;
Butler, Adam ;
Edkins, Sarah ;
O'Meara, Sarah ;
Vastrik, Imre ;
Schmidt, Esther E. ;
Avis, Tim ;
Barthorpe, Syd ;
Bhamra, Gurpreet ;
Buck, Gemma ;
Choudhury, Bhudipa ;
Clements, Jody ;
Cole, Jennifer ;
Dicks, Ed ;
Forbes, Simon ;
Gray, Kris ;
Halliday, Kelly ;
Harrison, Rachel ;
Hills, Katy ;
Hinton, Jon ;
Jenkinson, Andy ;
Jones, David ;
Menzies, Andy ;
Mironenko, Tatiana ;
Perry, Janet ;
Raine, Keiran ;
Richardson, Dave ;
Shepherd, Rebecca ;
Small, Alexandra ;
Tofts, Calli ;
Varian, Jennifer ;
Webb, Tony ;
West, Sofie ;
Widaa, Sara ;
Yates, Andy ;
Cahill, Daniel P. ;
Louis, David N. ;
Goldstraw, Peter ;
Nicholson, Andrew G. ;
Brasseur, Francis ;
Looijenga, Leendert ;
Weber, Barbara L. ;
Chiew, Yoke-Eng .
NATURE, 2007, 446 (7132) :153-158
[5]   CSMD1 is a novel multiple domain complement-regulatory protein highly expressed in the central nervous system and epithelial tissues [J].
Kraus, Damian M. ;
Elliott, Gary S. ;
Chute, Hilary ;
Horan, Thomas ;
Pfenninger, Karl H. ;
Sanford, Staci D. ;
Foster, Stephen ;
Scully, Sheila ;
Welcher, Andrew A. ;
Holers, V. Michael .
JOURNAL OF IMMUNOLOGY, 2006, 176 (07) :4419-4430
[6]   Genome sequencing in microfabricated high-density picolitre reactors [J].
Margulies, M ;
Egholm, M ;
Altman, WE ;
Attiya, S ;
Bader, JS ;
Bemben, LA ;
Berka, J ;
Braverman, MS ;
Chen, YJ ;
Chen, ZT ;
Dewell, SB ;
Du, L ;
Fierro, JM ;
Gomes, XV ;
Godwin, BC ;
He, W ;
Helgesen, S ;
Ho, CH ;
Irzyk, GP ;
Jando, SC ;
Alenquer, MLI ;
Jarvie, TP ;
Jirage, KB ;
Kim, JB ;
Knight, JR ;
Lanza, JR ;
Leamon, JH ;
Lefkowitz, SM ;
Lei, M ;
Li, J ;
Lohman, KL ;
Lu, H ;
Makhijani, VB ;
McDade, KE ;
McKenna, MP ;
Myers, EW ;
Nickerson, E ;
Nobile, JR ;
Plant, R ;
Puc, BP ;
Ronan, MT ;
Roth, GT ;
Sarkis, GJ ;
Simons, JF ;
Simpson, JW ;
Srinivasan, M ;
Tartaro, KR ;
Tomasz, A ;
Vogt, KA ;
Volkmer, GA .
NATURE, 2005, 437 (7057) :376-380
[7]   Whole genome scanning identifies genotypes associated with recurrence and metastasis in prostate tumors [J].
Paris, PL ;
Andaya, A ;
Fridlyand, J ;
Jain, AN ;
Weinberg, V ;
Kowbel, D ;
Brebner, JH ;
Simko, J ;
Watson, JEV ;
Volik, S ;
Albertson, DG ;
Pinkel, D ;
Alers, JC ;
van der Kwast, TH ;
Vissers, KJ ;
Schroder, FH ;
Wildhagen, MF ;
Febbo, PG ;
Chinnaiyan, AM ;
Pienta, KJ ;
Carroll, PR ;
Rubin, MA ;
Collins, C ;
van Dekken, H .
HUMAN MOLECULAR GENETICS, 2004, 13 (13) :1303-1313
[8]  
PARMIGIANI G, 2007, J HOPKINS U WORKING
[9]   The consensus coding sequences of human breast and colorectal cancers [J].
Sjoeblom, Tobias ;
Jones, Sian ;
Wood, Laura D. ;
Parsons, D. Williams ;
Lin, Jimmy ;
Barber, Thomas D. ;
Mandelker, Diana ;
Leary, Rebecca J. ;
Ptak, Janine ;
Silliman, Natalie ;
Szabo, Steve ;
Buckhaults, Phillip ;
Farrell, Christopher ;
Meeh, Paul ;
Markowitz, Sanford D. ;
Willis, Joseph ;
Dawson, Dawn ;
Willson, James K. V. ;
Gazdar, Adi F. ;
Hartigan, James ;
Wu, Leo ;
Liu, Changsheng ;
Parmigiani, Giovanni ;
Park, Ben Ho ;
Bachman, Kurtis E. ;
Papadopoulos, Nickolas ;
Vogelstein, Bert ;
Kinzler, Kenneth W. ;
Velculescu, Victor E. .
SCIENCE, 2006, 314 (5797) :268-274
[10]   DNA copy number alterations in prostate cancers: A combined analysis of published CGH studies [J].
Sun, Jishan ;
Liu, Wennuan ;
Adams, Tamara S. ;
Sun, Jielin ;
Li, Xingnan ;
Turner, Aubrey R. ;
Chang, Baoli ;
Kim, Jin Woo ;
Zheng, Siqun Lilly ;
Isaacs, William B. ;
Xu, Jianfeng .
PROSTATE, 2007, 67 (07) :692-700