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Identification of APC exon 15 mutations in families suspected of familial adenomatous polyposis (FAP).
Folia Biol (Praha). 1997; 43(5):203-9.FB

Abstract

Patients with familial adenomatous polyposis coli (FAP) reveal numerous colorectal adenomas as well as benign and malignant extracolonic lesions. Adenomatous polyposis coli (APC) gene mutations are the crucial genetic defect in FAP. The APC mutation molecular analysis of 20 FAP families was performed using the novel and effective method of the heteroduplex analysis (HDA). All of these families were screened for mutations in APC exon 15. APC mutations were identified in 4 individuals of two families. These two families were also screened by the protein truncation test (PTT). The PTT results confirmed previous findings obtained by HDA. The results of molecular analysis were correlated with the clinical manifestations of extracolonic lesions and congenital hypertrophy of retinal pigment epithelium (CHRPE). Positive correlation of all clinical examinations and mutations of APC gene was observed in all 4 FAP patients.

Authors+Show Affiliations

Cancer Research Institute, Slovak Academy of Sciences, Bratislava, Slovakia.No affiliation info availableNo 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

9595262

Citation

Kirchhoff, T, et al. "Identification of APC Exon 15 Mutations in Families Suspected of Familial Adenomatous Polyposis (FAP)." Folia Biologica, vol. 43, no. 5, 1997, pp. 203-9.
Kirchhoff T, Zajac V, Krizan P, et al. Identification of APC exon 15 mutations in families suspected of familial adenomatous polyposis (FAP). Folia Biol (Praha). 1997;43(5):203-9.
Kirchhoff, T., Zajac, V., Krizan, P., Repiská, V., Stevurková, V., & Friedl, W. (1997). Identification of APC exon 15 mutations in families suspected of familial adenomatous polyposis (FAP). Folia Biologica, 43(5), 203-9.
Kirchhoff T, et al. Identification of APC Exon 15 Mutations in Families Suspected of Familial Adenomatous Polyposis (FAP). Folia Biol (Praha). 1997;43(5):203-9. PubMed PMID: 9595262.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Identification of APC exon 15 mutations in families suspected of familial adenomatous polyposis (FAP). AU - Kirchhoff,T, AU - Zajac,V, AU - Krizan,P, AU - Repiská,V, AU - Stevurková,V, AU - Friedl,W, PY - 1997/1/1/pubmed PY - 1998/5/22/medline PY - 1997/1/1/entrez SP - 203 EP - 9 JF - Folia biologica JO - Folia Biol. (Praha) VL - 43 IS - 5 N2 - Patients with familial adenomatous polyposis coli (FAP) reveal numerous colorectal adenomas as well as benign and malignant extracolonic lesions. Adenomatous polyposis coli (APC) gene mutations are the crucial genetic defect in FAP. The APC mutation molecular analysis of 20 FAP families was performed using the novel and effective method of the heteroduplex analysis (HDA). All of these families were screened for mutations in APC exon 15. APC mutations were identified in 4 individuals of two families. These two families were also screened by the protein truncation test (PTT). The PTT results confirmed previous findings obtained by HDA. The results of molecular analysis were correlated with the clinical manifestations of extracolonic lesions and congenital hypertrophy of retinal pigment epithelium (CHRPE). Positive correlation of all clinical examinations and mutations of APC gene was observed in all 4 FAP patients. SN - 0015-5500 UR - https://www.unboundmedicine.com/medline/citation/9595262/Identification_of_APC_exon_15_mutations_in_families_suspected_of_familial_adenomatous_polyposis__FAP__ L2 - http://www.diseaseinfosearch.org/result/2766 DB - PRIME DP - Unbound Medicine ER -