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No difference in the occurrence of mismatch repair defects and APC and CTNNB1 genes mutation in a multi-racial colorectal carcinoma patient cohort.
Pathology. 2007 Apr; 39(2):228-34.P

Abstract

BACKGROUND AND AIMS

Colorectal cancers of different subtypes involve different pathogenic pathways like the Wnt and the mutator pathways. In this study, we screened 73 colorectal cancer cases from a multi-racial group for genetic and expression profile defects with the aim of correlating these with patients' clinicopathological characteristics.

METHODS

Mutation screening of the entire coding region of APC and exon 3 of CTNNB1, loss of heterozygosity (LOH) of APC, and microsatellite instability (MSI) status were assessed for 44 patients with available paired frozen normal and tumour tissues. In addition, 29 cases with available paraffin embedded tumour blocks were screened for mutation in exon 3 of CTNNB1, the APC mutation cluster region (codon 1286-1513), and hMLH1, hMSH2, hMSH6 protein expressions by immunohistochemistry method.

RESULTS

In our study, 15/73 cases showed APC mutations (20.5%), 1/73 cases had CTNNB1 mutation (1.4%), 5/32 cases had APC LOH (15.6%), and 16/70 (22.9%) cases revealed at least some form of mismatch repair (MMR) defect. Tumour grade (poor differentiation) was found to correlate significantly with right-sided tumour and mucinous histology (p = 0.01879 and 0.00320, respectively). Patients of younger age (below 45 years) more often had tumours of mucinous histology (p = 0.00014), while patients of older age (above 75 years) more often had tumours on the right side of the colon (p = 0.02448). Tumours of the mucinous histology subtype often had MMR defects (p = 0.02686). There was no difference in the occurrence of APC and CTNNB1 mutations and MMR defects found within our multi-racial colorectal cancer patient cohort.

CONCLUSION

Our findings support the notion that racial factor may not be related to the occurrence of MMR defects and APC and CTNNB1 mutations in our multi-racial patient cohort.

Authors+Show Affiliations

Molecular Pathology Unit, Cancer Research Centre, Institute for Medical Research, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

17454753

Citation

Tan, Lu Ping, et al. "No Difference in the Occurrence of Mismatch Repair Defects and APC and CTNNB1 Genes Mutation in a Multi-racial Colorectal Carcinoma Patient Cohort." Pathology, vol. 39, no. 2, 2007, pp. 228-34.
Tan LP, Ng BK, Balraj P, et al. No difference in the occurrence of mismatch repair defects and APC and CTNNB1 genes mutation in a multi-racial colorectal carcinoma patient cohort. Pathology. 2007;39(2):228-34.
Tan, L. P., Ng, B. K., Balraj, P., Lim, P. K., & Peh, S. C. (2007). No difference in the occurrence of mismatch repair defects and APC and CTNNB1 genes mutation in a multi-racial colorectal carcinoma patient cohort. Pathology, 39(2), 228-34.
Tan LP, et al. No Difference in the Occurrence of Mismatch Repair Defects and APC and CTNNB1 Genes Mutation in a Multi-racial Colorectal Carcinoma Patient Cohort. Pathology. 2007;39(2):228-34. PubMed PMID: 17454753.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - No difference in the occurrence of mismatch repair defects and APC and CTNNB1 genes mutation in a multi-racial colorectal carcinoma patient cohort. AU - Tan,Lu Ping, AU - Ng,Ban Kim, AU - Balraj,Pauline, AU - Lim,Patricia Kim Chooi, AU - Peh,Suat Cheng, PY - 2007/4/25/pubmed PY - 2007/9/22/medline PY - 2007/4/25/entrez SP - 228 EP - 34 JF - Pathology JO - Pathology VL - 39 IS - 2 N2 - BACKGROUND AND AIMS: Colorectal cancers of different subtypes involve different pathogenic pathways like the Wnt and the mutator pathways. In this study, we screened 73 colorectal cancer cases from a multi-racial group for genetic and expression profile defects with the aim of correlating these with patients' clinicopathological characteristics. METHODS: Mutation screening of the entire coding region of APC and exon 3 of CTNNB1, loss of heterozygosity (LOH) of APC, and microsatellite instability (MSI) status were assessed for 44 patients with available paired frozen normal and tumour tissues. In addition, 29 cases with available paraffin embedded tumour blocks were screened for mutation in exon 3 of CTNNB1, the APC mutation cluster region (codon 1286-1513), and hMLH1, hMSH2, hMSH6 protein expressions by immunohistochemistry method. RESULTS: In our study, 15/73 cases showed APC mutations (20.5%), 1/73 cases had CTNNB1 mutation (1.4%), 5/32 cases had APC LOH (15.6%), and 16/70 (22.9%) cases revealed at least some form of mismatch repair (MMR) defect. Tumour grade (poor differentiation) was found to correlate significantly with right-sided tumour and mucinous histology (p = 0.01879 and 0.00320, respectively). Patients of younger age (below 45 years) more often had tumours of mucinous histology (p = 0.00014), while patients of older age (above 75 years) more often had tumours on the right side of the colon (p = 0.02448). Tumours of the mucinous histology subtype often had MMR defects (p = 0.02686). There was no difference in the occurrence of APC and CTNNB1 mutations and MMR defects found within our multi-racial colorectal cancer patient cohort. CONCLUSION: Our findings support the notion that racial factor may not be related to the occurrence of MMR defects and APC and CTNNB1 mutations in our multi-racial patient cohort. SN - 0031-3025 UR - https://www.unboundmedicine.com/medline/citation/17454753/No_difference_in_the_occurrence_of_mismatch_repair_defects_and_APC_and_CTNNB1_genes_mutation_in_a_multi_racial_colorectal_carcinoma_patient_cohort_ L2 - https://linkinghub.elsevier.com/retrieve/pii/773344302 DB - PRIME DP - Unbound Medicine ER -