Tags

Type your tag names separated by a space and hit enter

[Familial and genetic study in a large Chinese kindred with hereditary nonpolyposis colorectal cancer].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2007 Apr; 24(2):227-9.ZY

Abstract

OBJECTIVE

Hereditary nonpolyposis colorectal cancer (HNPCC) is one of the most common hereditary colon cancer syndromes accounting for 1%-5% of all colorectal cancer cases. Germline mutations in at least five genes coding for DNA mismatch repair (MMR) proteins are associated with the clinical phenotype of HNPCC. More than 400 MMR mutations have been identified in HNPCC patients, and about 40% of mutations affect MSH2 gene including nucleotide substitutions, deletions, and insertions. Only a few mutations have been reported in Chinese families.

METHODS

A Chinese family with HNPCC was collected and peripheral blood of individuals from the family was obtained. Mutation analysis was performed on genomic DNA.

RESULTS

The family fulfilled Amsterdam criteria I, and 17 people out of 31 were diagnosed as malignant tumor for 21 times. Twelve people (70.6%) had rectal cancer, and the onset age was young with an average of 42.9 years old. Right side colon cancer was common in the family. A novel duplication mutation of four nucleotides in exon 7 MSH2 (MSH2: c.1215_1218dupCCGA) was found, which result in a premature stop 10 codons downstream in MSH2 (p.L407fsX417) in the family. Site-specific PCR was applied to the pre-symptomatic diagnosis.

CONCLUSION

This novel genomic mutation MSH2 was confirmed to be pathogenic, and polymerase chain reaction with modified primer was successfully applied to the pre-symptomatic diagnosis. These data expand the spectrum MSH2 mutations causing HNPCC.

Authors+Show Affiliations

Depertment of Surgery, The Second Xiangya Hospital, Central South University, Changsha, Hunan, 410011 PR China.No affiliation info availableNo affiliation info availableNo affiliation info availableNo 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

17407090

Citation

Li, Tie-gang, et al. "[Familial and Genetic Study in a Large Chinese Kindred With Hereditary Nonpolyposis Colorectal Cancer]." Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, vol. 24, no. 2, 2007, pp. 227-9.
Li TG, Liu XP, Zheng D, et al. [Familial and genetic study in a large Chinese kindred with hereditary nonpolyposis colorectal cancer]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2007;24(2):227-9.
Li, T. G., Liu, X. P., Zheng, D., Sun, J. C., Li, J., Tan, Z. P., & Qin, Z. Q. (2007). [Familial and genetic study in a large Chinese kindred with hereditary nonpolyposis colorectal cancer]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 24(2), 227-9.
Li TG, et al. [Familial and Genetic Study in a Large Chinese Kindred With Hereditary Nonpolyposis Colorectal Cancer]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2007;24(2):227-9. PubMed PMID: 17407090.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Familial and genetic study in a large Chinese kindred with hereditary nonpolyposis colorectal cancer]. AU - Li,Tie-gang, AU - Liu,Xiao-ping, AU - Zheng,Duo, AU - Sun,Ji-chun, AU - Li,Jun, AU - Tan,Zhi-ping, AU - Qin,Zhi-qang, PY - 2007/4/5/pubmed PY - 2009/3/28/medline PY - 2007/4/5/entrez SP - 227 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 - 24 IS - 2 N2 - OBJECTIVE: Hereditary nonpolyposis colorectal cancer (HNPCC) is one of the most common hereditary colon cancer syndromes accounting for 1%-5% of all colorectal cancer cases. Germline mutations in at least five genes coding for DNA mismatch repair (MMR) proteins are associated with the clinical phenotype of HNPCC. More than 400 MMR mutations have been identified in HNPCC patients, and about 40% of mutations affect MSH2 gene including nucleotide substitutions, deletions, and insertions. Only a few mutations have been reported in Chinese families. METHODS: A Chinese family with HNPCC was collected and peripheral blood of individuals from the family was obtained. Mutation analysis was performed on genomic DNA. RESULTS: The family fulfilled Amsterdam criteria I, and 17 people out of 31 were diagnosed as malignant tumor for 21 times. Twelve people (70.6%) had rectal cancer, and the onset age was young with an average of 42.9 years old. Right side colon cancer was common in the family. A novel duplication mutation of four nucleotides in exon 7 MSH2 (MSH2: c.1215_1218dupCCGA) was found, which result in a premature stop 10 codons downstream in MSH2 (p.L407fsX417) in the family. Site-specific PCR was applied to the pre-symptomatic diagnosis. CONCLUSION: This novel genomic mutation MSH2 was confirmed to be pathogenic, and polymerase chain reaction with modified primer was successfully applied to the pre-symptomatic diagnosis. These data expand the spectrum MSH2 mutations causing HNPCC. SN - 1003-9406 UR - https://www.unboundmedicine.com/medline/citation/17407090/[Familial_and_genetic_study_in_a_large_Chinese_kindred_with_hereditary_nonpolyposis_colorectal_cancer]_ L2 - http://www.diseaseinfosearch.org/result/2734 DB - PRIME DP - Unbound Medicine ER -