Molecular Diagnostics in Colorectal Carcinoma

被引:19
作者
Bhalla, Amarpreet [1 ]
Zulfiqar, Muhammad [2 ]
Weindel, Michael [3 ]
Shidham, Vinod B. [4 ]
机构
[1] Wayne State Univ, Sch Med, Detroit Med Ctr, Pathol Dept,Harper Univ Hosp, Detroit, MI 48201 USA
[2] Wayne State Univ, Sch Med, Old Hutzel Hosp, Pathol Dep,Detroit Med Ctr, Detroit, MI 48201 USA
[3] Wayne State Univ, Sch Med, Detroit Med Ctr, Dept Pathol,Karmanos Canc Ctr, Detroit, MI 48201 USA
[4] Wayne State Univ, Sch Med, Dept Pathol, Detroit Med Ctr,Old Hutzel Hosp,Karmanos Canc Ctr, Detroit, MI 48201 USA
关键词
Chromosomal instability; Microsatellite instability; Methylator phenotype; CpG island methylator phenotype; ISLAND METHYLATOR PHENOTYPE; MICROSATELLITE-INSTABILITY; MISMATCH-REPAIR; LYNCH-SYNDROME; ADJUVANT CHEMOTHERAPY; COLON-CANCER; GENETIC ALTERATIONS; KRAS MUTATIONS; BRAF MUTATIONS; TUMOR;
D O I
10.1016/j.cll.2013.10.001
中图分类号
R446 [实验室诊断]; R-33 [实验医学、医学实验];
学科分类号
1001 ;
摘要
Molecular pathogenesis and classification of colorectal carcinoma are based on the adenoma-carcinoma sequence in the Vogelstein model, serrated polyp pathway, and microsatellite instability. The genetic basis for hereditary nonpolyposis colorectal cancer is based on detection of genetic mutations. Genetic testing for Lynch syndrome includes microsatellite instability, methylator phenotyping, BRAF mutation, and molecular testing. Molecular makers include quantitative multigene reverse transcriptase polymerase chain reaction assay and KRAS and BRAF mutation analysis. Potential biomarkers include one-step nucleic acid amplification and epigenetic inactivation of endothelin 2 and endothelin 3 in colon cancer. Molecular screening approaches in colorectal cancer using stool DNA are under investigation.
引用
收藏
页码:835 / +
页数:26
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