Recent advances in colorectal cancer genetics and diagnostics

被引：43

作者：

Cheah, Peh Yean ^{[1
]}

机构：

[1] Singapore Gen Hosp, Dept Colorectal Surg, Singapore 169608, Singapore

来源：

CRITICAL REVIEWS IN ONCOLOGY HEMATOLOGY | 2009年 / 69卷 / 01期

基金：

英国医学研究理事会;

关键词：

Colorectal cancer genetics; Colorectal cancer diagnostics; Familial syndromes; Sporadic colorectal cancer; Nuclear beta-catenin; Wnt/TGF-beta-BMP/LKB-1/PI3K-AKT pathways; FAMILIAL ADENOMATOUS POLYPOSIS; GENOME-WIDE ASSOCIATION; CYCLIN D1 CCND1; AGE-OF-ONSET; BETA-CATENIN GENE; E-CADHERIN CDH1; GERMLINE MUTATIONS; JUVENILE POLYPOSIS; COLON-CANCER; APC GENE;

D O I：

10.1016/j.critrevonc.2008.08.001

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Colorectal cancer (CRC) is one of the most prevalent cancers and leading cause of cancer mortality worldwide. It is also one of the most curable cancers if detected early. This review classifies the diverse disease subtypes using Various parameters including phenotypes of the polyps and describes how recent advances in genetics have impacted on disease diagnostics. For familial syndromes, the discovery of initiating mutations in the germline made personalized medicine a reality. A model linking the main tumorigenesis (Wnt/TGF-beta-BMP/LKB-1/PI3K-AKT) pathways and a strategy for gene testing are proposed. For sporadic CRC, high throughput technology has enabled the discovery of susceptibility loci that increased CRC risk. The ramifications of screening the population for susceptibility loci are discussed. (c) 2008 Elsevier Ireland Ltd. All rights reserved.

引用

页码：45 / 55

页数：11

共 144 条

[101] MUTATION OF A MUTL HOMOLOG IN HEREDITARY COLON-CANCER [J].

PAPADOPOULOS, N ;

NICOLAIDES, NC ;

WEI, YF ;

RUBEN, SM ;

CARTER, KC ;

ROSEN, CA ;

HASELTINE, WA ;

FLEISCHMANN, RD ;

FRASER, CM ;

ADAMS, MD ;

VENTER, JC ;

HAMILTON, SR ;

PETERSEN, GM ;

WATSON, P ;

LYNCH, HT ;

PELTOMAKI, P ;

MECKLIN, JP ;

DELACHAPELLE, A ;

KINZLER, KW ;

VOGELSTEIN, B .

SCIENCE, 1994, 263 (5153) :1625-1629

[102] Frequent CpG island methylation in serrated adenomas of the colorectum [J].

Park, SJ ;

Rashid, A ;

Lee, JH ;

Kim, SG ;

Hamilton, SR ;

Wu, TT .

AMERICAN JOURNAL OF PATHOLOGY, 2003, 162 (03) :815-822

[103] The nuclear affairs of PTEN [J].

Planchon, Sarah M. ;

Waite, Kristin A. ;

Eng, Charis .

JOURNAL OF CELL SCIENCE, 2008, 121 (03) :249-253

[104] Contribution of cyclin d1 (CCND1) and E-cadherin (CDH1) polymorphisms to familial and sporadic colorectal cancer [J].

Porter, TR ;

Richards, FM ;

Houlston, RS ;

Evans, DGR ;

Jankowski, JA ;

Macdonald, F ;

Norbury, G ;

Payne, SJ ;

Fisher, SA ;

Tomlinson, I ;

Maher, ER .

ONCOGENE, 2002, 21 (12) :1928-1933

[105] The effect of the cyclin D1 (CCND1) A870G polymorphism on colorectal cancer risk is modified by glutathione-S-transferase polymorphisms and isothiocyanate intake in the Singapore Chinese Health Study [J].

Probst-Hensch, Nicole M. ;

Sun, Can-Lan ;

Van den Berg, David ;

Ceschi, Michela ;

Koh, Woon-Puay ;

Yu, Mimi C. .

CARCINOGENESIS, 2006, 27 (12) :2475-2482

[106] A National Cancer Institute workshop on hereditary nonpolyposis colorectal cancer syndrome: Meeting highlights and Bethesda guidelines [J].

RodriguezBigas, MA ;

Boland, CR ;

Hamilton, SR ;

Henson, DE ;

Jass, JR ;

Khan, PM ;

Lynch, H ;

Perucho, M ;

Smyrk, T ;

Sobin, L ;

Srivastava, S .

JOURNAL OF THE NATIONAL CANCER INSTITUTE, 1997, 89 (23) :1758-1762

[107] The genetics of hereditary colon cancer [J].

Rustgi, Anil K. .

GENES & DEVELOPMENT, 2007, 21 (20) :2525-2538

[108] Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH [J].

Sampson, JR ;

Dolwani, S ;

Jones, S ;

Eccles, D ;

Ellis, A ;

Evans, DG ;

Frayling, I ;

Jordan, S ;

Maher, ER ;

Mak, T ;

Maynard, J ;

Pigatto, F ;

Shaw, J ;

Cheadle, JP .

LANCET, 2003, 362 (9377) :39-41

[109] Loss of Apc in vivo immediately perturbs Wnt signaling, differentiation, and migration [J].

Sansom, OJ ;

Reed, KR ;

Hayes, AJ ;

Ireland, H ;

Brinkmann, H ;

Newton, IP ;

Batlle, E ;

Simon-Assmann, P ;

Clevers, H ;

Nathke, IS ;

Clarke, AR ;

Winton, DJ .

GENES & DEVELOPMENT, 2004, 18 (12) :1385-1390

[110]

SEOW A, 2004, 6 SING CANC REG

← 6 7 8 9 10 11 12 13 14 15 →