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

[1]

AALTONEN LA, 1994, CANCER RES, V54, P1645

[2] 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

[3] Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease [J].

Aaltonen, LA ;

Salovaara, R ;

Kristo, P ;

Canzian, F ;

Hemminki, A ;

Peltomäki, P ;

Chadwick, RB ;

Kääriäinen, H ;

Eskelinen, M ;

Järvinen, H ;

Mecklin, JP ;

de la Chapelle, A ;

Percesepe, A ;

Ahtola, H ;

Härkönen, N ;

Julkunen, R ;

Kangas, E ;

Ojala, S ;

Tulikoura, J ;

ValKamo, E .

NEW ENGLAND JOURNAL OF MEDICINE, 1998, 338 (21) :1481-1487

[4]

Akiyama Y, 1997, CANCER RES, V57, P3920

[5] Inherited variants of MYH associated with somatic G:C→T:A mutations in colorectal tumors [J].

Al-Tassan, N ;

Chmiel, NH ;

Maynard, J ;

Fleming, N ;

Livingston, AL ;

Williams, GT ;

Hodges, AK ;

Davies, DR ;

David, SS ;

Sampson, JR ;

Cheadle, JR .

NATURE GENETICS, 2002, 30 (02) :227-232

[6] High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome [J].

Aretz, S. ;

Stienen, D. ;

Uhlhaas, S. ;

Stolte, M. ;

Entius, M. M. ;

Loff, S. ;

Back, W. ;

Kaufmann, A. ;

Keller, K-M ;

Blaas, S. H. ;

Siebert, R. ;

Vogt, S. ;

Spranger, S. ;

Holinski-Feder, E. ;

Sunde, L. ;

Propping, P. ;

Friedl, W. .

JOURNAL OF MEDICAL GENETICS, 2007, 44 (11) :702-709

[7] Large submicroscopic genomic APC deletions are a common cause of typical familial adenomatous polyposis [J].

Aretz, S ;

Stienen, D ;

Uhlhaas, S ;

Pagenstecher, C ;

Mangold, E ;

Caspari, R ;

Propping, P ;

Friedl, W .

JOURNAL OF MEDICAL GENETICS, 2005, 42 (02) :185-192

[8] High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome [J].

Aretz, S ;

Stienen, D ;

Uhlhaas, S ;

Loff, S ;

Back, W ;

Pagenstecher, C ;

McLeod, DR ;

Graham, GE ;

Mangold, E ;

Santer, R ;

Propping, P ;

Friedl, W .

HUMAN MUTATION, 2005, 26 (06) :513-519

[9] Multiple rare nonsynonymous variants in the Adenomatous Polyposis Coli gene predispose to colorectal adenomas [J].

Azzopardi, Duncan ;

Dallosso, Anthony R. ;

Eliason, Kristilyn ;

Hendrickson, Brant C. ;

Jones, Natalie ;

Rawstorne, Edward ;

Colley, James ;

Moskvina, Valentina ;

Frye, Cynthia ;

Sampson, Julian R. ;

Wenstrup, Richard ;

Scholl, Thomas ;

Cheadle, Jeremy P. .

CANCER RESEARCH, 2008, 68 (02) :358-363

[10]

Bala S, 2001, CANCER RES, V61, P6042

← 1 2 3 4 5 6 7 8 9 10 →