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Molecular analysis of the APC and MYH genes in Czech families affected by FAP or multiple adenomas: 13 novel mutations.
Hum Mutat. 2004 Apr; 23(4):397.HM

Abstract

Familial adenomatous polyposis (FAP) is an autosomal dominant predisposition to colorectal cancer and is caused by germline mutations in the adenomatous polyposis coli gene. The most prominent clinical manifestation is the presence of hundreds to thousands of colorectal polyps. A milder phenotype is found in patients affected with AFAP/ multiple adenomas. We screened the entire APC coding region using the combination of DGGE, PTT and direct sequencing and identified causative mutations in 52 of 77 patients. Thirteen of the mutations found were novel. In addition, we also tested 21 APC mutation/negative probands for the two most common mutations in the MYH gene. Four patients showed neither dominant transmission of the disease nor evidence of APC mutations. In one of them the most common biallelic germline mutation in the MYH gene was detected. Correlations between the localization of germline mutations and clinical manifestations of the diseases are discussed.

Authors+Show Affiliations

Institute of Biology and Medical Genetics, 1st Faculty of Medicine, Charles University, General Teaching Hospital, Prague, Czech Republic.No 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

15024739

Citation

Vandrovcová, J, et al. "Molecular Analysis of the APC and MYH Genes in Czech Families Affected By FAP or Multiple Adenomas: 13 Novel Mutations." Human Mutation, vol. 23, no. 4, 2004, p. 397.
Vandrovcová J, Stekrová J, Kebrdlová V, et al. Molecular analysis of the APC and MYH genes in Czech families affected by FAP or multiple adenomas: 13 novel mutations. Hum Mutat. 2004;23(4):397.
Vandrovcová, J., Stekrová, J., Kebrdlová, V., & Kohoutová, M. (2004). Molecular analysis of the APC and MYH genes in Czech families affected by FAP or multiple adenomas: 13 novel mutations. Human Mutation, 23(4), 397.
Vandrovcová J, et al. Molecular Analysis of the APC and MYH Genes in Czech Families Affected By FAP or Multiple Adenomas: 13 Novel Mutations. Hum Mutat. 2004;23(4):397. PubMed PMID: 15024739.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Molecular analysis of the APC and MYH genes in Czech families affected by FAP or multiple adenomas: 13 novel mutations. AU - Vandrovcová,J, AU - Stekrová,J, AU - Kebrdlová,V, AU - Kohoutová,M, PY - 2004/3/17/pubmed PY - 2004/5/7/medline PY - 2004/3/17/entrez SP - 397 EP - 397 JF - Human mutation JO - Hum Mutat VL - 23 IS - 4 N2 - Familial adenomatous polyposis (FAP) is an autosomal dominant predisposition to colorectal cancer and is caused by germline mutations in the adenomatous polyposis coli gene. The most prominent clinical manifestation is the presence of hundreds to thousands of colorectal polyps. A milder phenotype is found in patients affected with AFAP/ multiple adenomas. We screened the entire APC coding region using the combination of DGGE, PTT and direct sequencing and identified causative mutations in 52 of 77 patients. Thirteen of the mutations found were novel. In addition, we also tested 21 APC mutation/negative probands for the two most common mutations in the MYH gene. Four patients showed neither dominant transmission of the disease nor evidence of APC mutations. In one of them the most common biallelic germline mutation in the MYH gene was detected. Correlations between the localization of germline mutations and clinical manifestations of the diseases are discussed. SN - 1098-1004 UR - https://www.unboundmedicine.com/medline/citation/15024739/Molecular_analysis_of_the_APC_and_MYH_genes_in_Czech_families_affected_by_FAP_or_multiple_adenomas:_13_novel_mutations_ L2 - https://doi.org/10.1002/humu.9224 DB - PRIME DP - Unbound Medicine ER -