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[Mutational studies of adenomatous polyposis coli gene in carcinomas from patients with hereditary non-polyposis colorectal cancers].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2003 Jun; 20(3):196-9.ZY

Abstract

OBJECTIVE

To analyze the mutational features of adenomatous polyposis coli (APC) gene and to explore the effect of mismatch repair (MMR) deficiency on its mutations in hereditary non-polyposis colorectal cancers (HNPCC).

METHODS

PCR-based in vitro synthesized protein test (IVSP) assay and sequencing analysis were used to confirm somatic mutations of whole APC gene in 19 HNPCC patients.

RESULTS

Eleven cases with thirteen mutations were determined. The frequency of APC mutation was 58%(11/19). The exhibiting mutations consisted of 9 frameshift mutations and 4 nonsense ones, indicating the existence of more frameshift mutations (69%). All of frameshift mutations were deletion or insertion of 1-2 bp and most of them (7/9) happened at simple nucleotide repeat sequences, particularly within (A) n tracts (5/9). All of four nonsense mutations resulted from C to T transitions at CpG sites.

CONCLUSION

Mutational inactivations of APC gene were detected in more than half of HNPCC patients in this study, indicating that APC mutation is a common molecular event in the tumorigenesis of HNPCC. According to the location of frameshift mutations at simple nucleotide repeat sequences and point mutations at CpG sites, it was suggested that endogenous mechanisms like MMR deficiency might exert an effect on the nature of APC mutations in most HNPCC.

Authors+Show Affiliations

Department of Oncology, 2nd Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, 310009 PR China. hjys@zju.edu.cnNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

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

Language

chi

PubMed ID

12778442

Citation

Huang, Jian, et al. "[Mutational Studies of Adenomatous Polyposis Coli Gene in Carcinomas From Patients With Hereditary Non-polyposis Colorectal Cancers]." Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, vol. 20, no. 3, 2003, pp. 196-9.
Huang J, Jin SH, Zhang SZ, et al. [Mutational studies of adenomatous polyposis coli gene in carcinomas from patients with hereditary non-polyposis colorectal cancers]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2003;20(3):196-9.
Huang, J., Jin, S. H., Zhang, S. Z., & Zheng, S. (2003). [Mutational studies of adenomatous polyposis coli gene in carcinomas from patients with hereditary non-polyposis colorectal cancers]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 20(3), 196-9.
Huang J, et al. [Mutational Studies of Adenomatous Polyposis Coli Gene in Carcinomas From Patients With Hereditary Non-polyposis Colorectal Cancers]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2003;20(3):196-9. PubMed PMID: 12778442.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Mutational studies of adenomatous polyposis coli gene in carcinomas from patients with hereditary non-polyposis colorectal cancers]. AU - Huang,Jian, AU - Jin,Shen-hang, AU - Zhang,Shu-zhan, AU - Zheng,Shu, PY - 2003/6/5/pubmed PY - 2009/2/26/medline PY - 2003/6/5/entrez SP - 196 EP - 9 JF - Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics JO - Zhonghua Yi Xue Yi Chuan Xue Za Zhi VL - 20 IS - 3 N2 - OBJECTIVE: To analyze the mutational features of adenomatous polyposis coli (APC) gene and to explore the effect of mismatch repair (MMR) deficiency on its mutations in hereditary non-polyposis colorectal cancers (HNPCC). METHODS: PCR-based in vitro synthesized protein test (IVSP) assay and sequencing analysis were used to confirm somatic mutations of whole APC gene in 19 HNPCC patients. RESULTS: Eleven cases with thirteen mutations were determined. The frequency of APC mutation was 58%(11/19). The exhibiting mutations consisted of 9 frameshift mutations and 4 nonsense ones, indicating the existence of more frameshift mutations (69%). All of frameshift mutations were deletion or insertion of 1-2 bp and most of them (7/9) happened at simple nucleotide repeat sequences, particularly within (A) n tracts (5/9). All of four nonsense mutations resulted from C to T transitions at CpG sites. CONCLUSION: Mutational inactivations of APC gene were detected in more than half of HNPCC patients in this study, indicating that APC mutation is a common molecular event in the tumorigenesis of HNPCC. According to the location of frameshift mutations at simple nucleotide repeat sequences and point mutations at CpG sites, it was suggested that endogenous mechanisms like MMR deficiency might exert an effect on the nature of APC mutations in most HNPCC. SN - 1003-9406 UR - https://www.unboundmedicine.com/medline/citation/12778442/[Mutational_studies_of_adenomatous_polyposis_coli_gene_in_carcinomas_from_patients_with_hereditary_non_polyposis_colorectal_cancers]_ L2 - http://www.diseaseinfosearch.org/result/2722 DB - PRIME DP - Unbound Medicine ER -