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APC germline mutations identified in Czech patients with familial adenomatous polyposis.
Hum Mutat. 2002 Apr; 19(4):460-1.HM

Abstract

Familial adenomatous polyposis (FAP) is an autosomal dominantly inherited predisposition to colorectal cancer, which is caused by germline mutations in the adenomatous polyposis coli (APC) gene. The APC mutations have been investigated in 46 Czech unrelated FAP families and 9 suspected FAP families using DGGE analysis and direct DNA sequencing. We found 25 germline APC mutations and identified 11 which were not previously reported. Of the identified mutations, 10 were 1 to 5 bp deletions, four were 1 bp insertions and six were nonsense, all leading to the formation of premature stop codon. In addition, we detected two mutations in the splice-donor region of APC intron 11, one missense and two samesense mutations. Phenotypes of patients with known and novel types of mutations are presented and discussed.

Authors+Show Affiliations

Institute of Biology and Medical Genetics, 1st Faculty of Medicine, Charles University, General Teaching Hospital, Prague, Czech Republic, mkoho@lf1.cuni.cz.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

11933206

Citation

Kohoutová, Milada, et al. "APC Germline Mutations Identified in Czech Patients With Familial Adenomatous Polyposis." Human Mutation, vol. 19, no. 4, 2002, pp. 460-1.
Kohoutová M, Stekrová J, Jirásek V, et al. APC germline mutations identified in Czech patients with familial adenomatous polyposis. Hum Mutat. 2002;19(4):460-1.
Kohoutová, M., Stekrová, J., Jirásek, V., & Kapras, J. (2002). APC germline mutations identified in Czech patients with familial adenomatous polyposis. Human Mutation, 19(4), 460-1.
Kohoutová M, et al. APC Germline Mutations Identified in Czech Patients With Familial Adenomatous Polyposis. Hum Mutat. 2002;19(4):460-1. PubMed PMID: 11933206.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - APC germline mutations identified in Czech patients with familial adenomatous polyposis. AU - Kohoutová,Milada, AU - Stekrová,Jitka, AU - Jirásek,Václav, AU - Kapras,Jan, PY - 2002/4/5/pubmed PY - 2002/8/31/medline PY - 2002/4/5/entrez SP - 460 EP - 1 JF - Human mutation JO - Hum. Mutat. VL - 19 IS - 4 N2 - Familial adenomatous polyposis (FAP) is an autosomal dominantly inherited predisposition to colorectal cancer, which is caused by germline mutations in the adenomatous polyposis coli (APC) gene. The APC mutations have been investigated in 46 Czech unrelated FAP families and 9 suspected FAP families using DGGE analysis and direct DNA sequencing. We found 25 germline APC mutations and identified 11 which were not previously reported. Of the identified mutations, 10 were 1 to 5 bp deletions, four were 1 bp insertions and six were nonsense, all leading to the formation of premature stop codon. In addition, we detected two mutations in the splice-donor region of APC intron 11, one missense and two samesense mutations. Phenotypes of patients with known and novel types of mutations are presented and discussed. SN - 1098-1004 UR - https://www.unboundmedicine.com/medline/citation/11933206/APC_germline_mutations_identified_in_Czech_patients_with_familial_adenomatous_polyposis_ L2 - https://doi.org/10.1002/humu.9028 DB - PRIME DP - Unbound Medicine ER -