J Korean Surg Soc.  2009 Mar;76(3):159-167. 10.4174/jkss.2009.76.3.159.

APC Mutation Spectra in Sporadic Colon Cancer Tissue among Korean

• Cho SH
• Huh JW
• Kim YJ
• Shin MG
• Kim HR

• KMID: 2096538
• DOI: http://doi.org/10.4174/jkss.2009.76.3.159

Abstract

PURPOSE
APC (adenomatous polyposis coli) gene is one of the tumor-suppressor genes that acts in the early stages of cancer. Among general colon cancer patients, normal APC gene expression is deficient in 80%. It seems that APC is the most important gene in the development of colon cancer. This study was performed to analyze the mutation spectra of APC gene in sporadic colon cancer tissue from Korean patients with colon cancer.
METHODS
A total of 38 patients with sporadic colon cancer were enrolled. Colon cancer tissues were analyzed for the determination of APC gene mutation spectra by multiplex ligation-dependent probe amplification (MLPA) method using SALSA MLPA P403 APC kit (MRC-Holland, Amsterdam, NL).
RESULTS
APC gene mutations showing deletion/duplication in one or more exons were detected in 23 (60.5%) patients. Duplication in 13 patients (56.5%), duplication and deletion in 7 patients (30.4%), and deletion in 3 patients (13.1%) was detected. The incidence of APC gene mutation found in this study was highest in exon 3. From this study, no significant differences were observed with respect to clinicopathologic findings and the presence or absence of APC mutations.
CONCLUSION
The frequency of APC gene mutation was about 61% in Korean patients with colon cancer, it showed concordance with the previous reports on the frequency of APC gene mutation from Caucasian patients with sporadic colon cancer. However, in contrast to these reports, the frequency of duplication disclosed much higher than those of western countries.

Keyword

Colon cancer; APC gene; Mutation

MeSH Terms

Colon
Colonic Neoplasms
Exons
Genes, APC
Humans
Incidence
Multiplex Polymerase Chain Reaction

Figure

• 

  Fig. 1 Outline of the multiplex ligation-dependent probe amplification (MLPA) reaction. (A) The primer probes consist of two oligonucleotides, one with only primer and hybridization sequences, and the other with an extra stuffer sequence between the two sequences. (B-a) The two parts of each probe hybridize to adjacent target sequences. (B-b) Probes are ligated by a thermostable ligase. (B-c) A universal primer pair is used to amplify all ligated probes. The stuffer sequence is different for each probe and makes the amplification product separated by electrophoresis.

• 

  Fig. 2 Detection of deletions in the APC gene with MLPA. (A) Capillary electrophoresis (CE) pattern from a control sample containing normal APC gene. (B) CE pattern from patient 38 without any deletion or duplication in APC gene exon. (C) CE pattern from patient 10 with two deletions in exon 5 and exon 15 end of APC gene.

• 

  Fig. 3 Detection of deletions in the APC gene with MLPA. (A) Capillary electrophoresis (CE) pattern from a control sample containing normal APC gene. (B) CE pattern from patient 38 without any deletion or duplication in APC gene exon. (C) CE pattern from patient 14 with one duplication in exon 1 of APC gene.

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