Molecular pathways in colorectal cancer

被引：195

作者：

Al-Sohaily, Sam ^{[1
,3
,4
]}

Biankin, Andrew ^{[1
,3
,5
]}

Leong, Rupert ^{[3
,6
]}

Kohonen-Corish, Maija ^{[1
,2
]}

Warusavitarne, Janindra ^{[1
]}

机构：

[1] St Vincents Hosp, Garvan Inst Med Res, Canc Res Program, Darlinghurst, NSW 2010, Australia

[2] Univ New S Wales, St Vincents Clin Sch, Sydney, NSW, Australia

[3] Univ New S Wales, S Western Sydney Clin Sch, Sydney, NSW, Australia

[4] Campbelltown Hosp, Dept Gastroenterol, Campbelltown, NSW, Australia

[5] Bankstown Lidcombe Hosp, Dept Surg, Bankstown, NSW, Australia

[6] Bankstown Lidcombe Hosp, Dept Gastroenterol, Bankstown, NSW, Australia

来源：

JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY | 2012年 / 27卷 / 09期

关键词：

chromosomal instability; colorectal cancer; CpG Island Methylator Phenotype; microsatellite instability; molecular pathways; ISLAND METHYLATOR PHENOTYPE; FAMILIAL ADENOMATOUS POLYPOSIS; MYH-ASSOCIATED POLYPOSIS; EPITHELIAL-MESENCHYMAL TRANSITIONS; 18Q ALLELIC LOSS; K-RAS ONCOGENE; MICROSATELLITE INSTABILITY; COLON-CANCER; LYNCH-SYNDROME; MISMATCH REPAIR;

D O I：

10.1111/j.1440-1746.2012.07200.x

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

摘要：

Colorectal cancer (CRC) is the second most common newly diagnosed cancer and accounts for the second highest number of cancer related deaths in Australia, the third worldwide and of increasing importance in Asia. It arises through cumulative effects of inherited genetic predispositions and environmental factors. Genomic instability is an integral part in the transformation of normal colonic or rectal mucosa into carcinoma. Three molecular pathways have been identified: these are the chromosomal instability (CIN), the microsatellite instability (MSI), and the CpG Island Methylator Phenotype (CIMP) pathways. These pathways are not mutually exclusive, with some tumors exhibiting features of multiple pathways. Germline mutations are responsible for hereditary CRC syndromes (accounting for less than 5% of all CRC) while a stepwise accumulation of genetic and epigenetic alterations results in sporadic CRC. This review aims to discuss the genetic basis of hereditary CRC and the different pathways involved in the process of colorectal carcinogenesis.

引用

页码：1423 / 1431

页数：9

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