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The most frequent APC mutations among Slovak familial adenomatous polyposis patients. Adenomatous polyposis coli.
Neoplasma. 2002; 49(6):356-61.N

Abstract

We screened 46 suspected families from whole Slovakia for familial adenomatous polyposis (FAP) cancer predisposition. Individuals were enrolled to the adenomatous polyposis coli (APC) gene mutations mapping program at the base of previous clinical investigation. We have used the following techniques: heteroduplex analysis (HDA), protein truncation test (PTT), single strand conformation polymorphism (SSCP) and sequencing for the identification and detailed positional analysis of APC mutations. Around 90% of all detected mutations were found being truncated. The most frequent mutations from this collection were located within codons 1309 and 1061 of exon 15 and represented 15% and 7%, respectively of all tested families. The expressive phenotype, large amount of colorectal polyps and congenital hypertrophy of the retinal pigment epithelium (CHRPE) were associated to all mutations within codons 1309 and 1060.

Authors+Show Affiliations

Dpt. of Cancer Genetics, Cancer Research Institute, Slovak Academy of Sciences, Bratislava, 833 91 Slovak Republic. exonvzaj@savba.skNo 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

12584582

Citation

Zajac, V, et al. "The Most Frequent APC Mutations Among Slovak Familial Adenomatous Polyposis Patients. Adenomatous Polyposis Coli." Neoplasma, vol. 49, no. 6, 2002, pp. 356-61.
Zajac V, Kovác M, Kirchhoff T, et al. The most frequent APC mutations among Slovak familial adenomatous polyposis patients. Adenomatous polyposis coli. Neoplasma. 2002;49(6):356-61.
Zajac, V., Kovác, M., Kirchhoff, T., Stevurková, V., & Tomka, M. (2002). The most frequent APC mutations among Slovak familial adenomatous polyposis patients. Adenomatous polyposis coli. Neoplasma, 49(6), 356-61.
Zajac V, et al. The Most Frequent APC Mutations Among Slovak Familial Adenomatous Polyposis Patients. Adenomatous Polyposis Coli. Neoplasma. 2002;49(6):356-61. PubMed PMID: 12584582.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The most frequent APC mutations among Slovak familial adenomatous polyposis patients. Adenomatous polyposis coli. AU - Zajac,V, AU - Kovác,M, AU - Kirchhoff,T, AU - Stevurková,V, AU - Tomka,M, PY - 2003/2/14/pubmed PY - 2003/3/21/medline PY - 2003/2/14/entrez SP - 356 EP - 61 JF - Neoplasma JO - Neoplasma VL - 49 IS - 6 N2 - We screened 46 suspected families from whole Slovakia for familial adenomatous polyposis (FAP) cancer predisposition. Individuals were enrolled to the adenomatous polyposis coli (APC) gene mutations mapping program at the base of previous clinical investigation. We have used the following techniques: heteroduplex analysis (HDA), protein truncation test (PTT), single strand conformation polymorphism (SSCP) and sequencing for the identification and detailed positional analysis of APC mutations. Around 90% of all detected mutations were found being truncated. The most frequent mutations from this collection were located within codons 1309 and 1061 of exon 15 and represented 15% and 7%, respectively of all tested families. The expressive phenotype, large amount of colorectal polyps and congenital hypertrophy of the retinal pigment epithelium (CHRPE) were associated to all mutations within codons 1309 and 1060. SN - 0028-2685 UR - https://www.unboundmedicine.com/medline/citation/12584582/The_most_frequent_APC_mutations_among_Slovak_familial_adenomatous_polyposis_patients__Adenomatous_polyposis_coli_ L2 - http://www.diseaseinfosearch.org/result/2766 DB - PRIME DP - Unbound Medicine ER -