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Characterization of APC exon 15 germ-line mutation in FAP family with severe phenotype showing extracolonic symptoms.
Neoplasma. 1999; 46(5):290-4.N

Abstract

The adenomatous polyposis coli (APC) gene plays a crucial role in colorectal carcinogenesis. Germ-line mutations of APC gene give rise to familial adenomatous polyposis coli (FAP) - autosomal dominant syndrome manifesting hundreds to thousands of colorectal polyps, if untreated with malignant progression. We have used the techniques of heteroduplex analysis (HDA), protein truncation test (PTT), single strand conformation polymorphism (SSCP) and DNA sequencing for the identification and detailed positional analysis of mutations in IFAP family with the expressive phenotype characterized by polyposis and extracolonic lesions. Detailed analysis revealed a 5bp deletion in a mutation cluster region (MCR) in exon 15 of APC gene in codon 1308. Two screened members of the FAP family exhibited this novel mutation.

Authors+Show Affiliations

Cancer Research Institute, Slovak Academy of Sciences, Bratislava, Slovak Republic.No 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

10665844

Citation

Kirchhoff, T, et al. "Characterization of APC Exon 15 Germ-line Mutation in FAP Family With Severe Phenotype Showing Extracolonic Symptoms." Neoplasma, vol. 46, no. 5, 1999, pp. 290-4.
Kirchhoff T, Kulcsár L, Tomka M, et al. Characterization of APC exon 15 germ-line mutation in FAP family with severe phenotype showing extracolonic symptoms. Neoplasma. 1999;46(5):290-4.
Kirchhoff, T., Kulcsár, L., Tomka, M., Stevurková, V., & Zajac, V. (1999). Characterization of APC exon 15 germ-line mutation in FAP family with severe phenotype showing extracolonic symptoms. Neoplasma, 46(5), 290-4.
Kirchhoff T, et al. Characterization of APC Exon 15 Germ-line Mutation in FAP Family With Severe Phenotype Showing Extracolonic Symptoms. Neoplasma. 1999;46(5):290-4. PubMed PMID: 10665844.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Characterization of APC exon 15 germ-line mutation in FAP family with severe phenotype showing extracolonic symptoms. AU - Kirchhoff,T, AU - Kulcsár,L, AU - Tomka,M, AU - Stevurková,V, AU - Zajac,V, PY - 2000/2/9/pubmed PY - 2000/2/19/medline PY - 2000/2/9/entrez SP - 290 EP - 4 JF - Neoplasma JO - Neoplasma VL - 46 IS - 5 N2 - The adenomatous polyposis coli (APC) gene plays a crucial role in colorectal carcinogenesis. Germ-line mutations of APC gene give rise to familial adenomatous polyposis coli (FAP) - autosomal dominant syndrome manifesting hundreds to thousands of colorectal polyps, if untreated with malignant progression. We have used the techniques of heteroduplex analysis (HDA), protein truncation test (PTT), single strand conformation polymorphism (SSCP) and DNA sequencing for the identification and detailed positional analysis of mutations in IFAP family with the expressive phenotype characterized by polyposis and extracolonic lesions. Detailed analysis revealed a 5bp deletion in a mutation cluster region (MCR) in exon 15 of APC gene in codon 1308. Two screened members of the FAP family exhibited this novel mutation. SN - 0028-2685 UR - https://www.unboundmedicine.com/medline/citation/10665844/Characterization_of_APC_exon_15_germ_line_mutation_in_FAP_family_with_severe_phenotype_showing_extracolonic_symptoms_ DB - PRIME DP - Unbound Medicine ER -