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The mutation spectrum of the APC gene in FAP patients from southern Italy: detection of known and four novel mutations.
Hum Mutat. 2003 Jun; 21(6):655-6.HM

Abstract

Familial adenomatous polyposis (FAP), an autosomal dominantly inherited condition accounting for about 1% of all colorectal cancers, results from mutations in the adenomatous polyposis coli (APC) tumor suppressor gene. The clinical spectrum and severity of FAP varies greatly with the mutation site, and both between and within families. Using the protein truncation test, single strand conformation polymorphism analysis and DNA sequencing, we identified 30 (75%) mutant alleles in 40 unrelated FAP families, for a total of 22 different APC mutations. Of these, 18 are known and 4 are novel: c.1797C>A (C599X), c.893_894delAC, (c.3225T>A; c.3226C>A) and c.4526_4527insT. Of the 30 APC gene mutations, 5 (approximately 17%) are nonsense mutations, 17 (approximately 57%) are small deletions, 5 (approximately 17%) are small insertions and 3 (approximately 10%) are complete deletions. All mutations occurred in single pedigrees, except those at codons 1061 and 1062, each found in two unrelated families, and the mutation at codon 1309 in exon 15, found in five unrelated families. About 40% of mutations, mostly small deletions and insertions, are located at repeated sequences; they promote misalignment-mediated errors in DNA replication and could represent a hot spot mutation region. This study enlarges the spectrum of APC gene mutations and sheds light on the correlation between the site of APC germline mutations and clinical manifestations of FAP.

Authors+Show Affiliations

Dip. Biochimica e Biotecnologie Mediche, CEINGE-Biotecnologie Avanzate, Università di Napoli Federico II, Naples, Italy.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo 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

14961559

Citation

De Rosa, Marina, et al. "The Mutation Spectrum of the APC Gene in FAP Patients From Southern Italy: Detection of Known and Four Novel Mutations." Human Mutation, vol. 21, no. 6, 2003, pp. 655-6.
De Rosa M, Scarano MI, Panariello L, et al. The mutation spectrum of the APC gene in FAP patients from southern Italy: detection of known and four novel mutations. Hum Mutat. 2003;21(6):655-6.
De Rosa, M., Scarano, M. I., Panariello, L., Morelli, G., Riegler, G., Rossi, G. B., Tempesta, A., Romano, G., Renda, A., Pettinato, G., & Izzo, P. (2003). The mutation spectrum of the APC gene in FAP patients from southern Italy: detection of known and four novel mutations. Human Mutation, 21(6), 655-6.
De Rosa M, et al. The Mutation Spectrum of the APC Gene in FAP Patients From Southern Italy: Detection of Known and Four Novel Mutations. Hum Mutat. 2003;21(6):655-6. PubMed PMID: 14961559.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The mutation spectrum of the APC gene in FAP patients from southern Italy: detection of known and four novel mutations. AU - De Rosa,Marina, AU - Scarano,Maria I, AU - Panariello,Luigi, AU - Morelli,Gemma, AU - Riegler,Gabriele, AU - Rossi,Giovanni B, AU - Tempesta,Alfonso, AU - Romano,Giovanni, AU - Renda,Andrea, AU - Pettinato,Guido, AU - Izzo,Paola, PY - 2004/2/13/pubmed PY - 2004/3/5/medline PY - 2004/2/13/entrez SP - 655 EP - 6 JF - Human mutation JO - Hum Mutat VL - 21 IS - 6 N2 - Familial adenomatous polyposis (FAP), an autosomal dominantly inherited condition accounting for about 1% of all colorectal cancers, results from mutations in the adenomatous polyposis coli (APC) tumor suppressor gene. The clinical spectrum and severity of FAP varies greatly with the mutation site, and both between and within families. Using the protein truncation test, single strand conformation polymorphism analysis and DNA sequencing, we identified 30 (75%) mutant alleles in 40 unrelated FAP families, for a total of 22 different APC mutations. Of these, 18 are known and 4 are novel: c.1797C>A (C599X), c.893_894delAC, (c.3225T>A; c.3226C>A) and c.4526_4527insT. Of the 30 APC gene mutations, 5 (approximately 17%) are nonsense mutations, 17 (approximately 57%) are small deletions, 5 (approximately 17%) are small insertions and 3 (approximately 10%) are complete deletions. All mutations occurred in single pedigrees, except those at codons 1061 and 1062, each found in two unrelated families, and the mutation at codon 1309 in exon 15, found in five unrelated families. About 40% of mutations, mostly small deletions and insertions, are located at repeated sequences; they promote misalignment-mediated errors in DNA replication and could represent a hot spot mutation region. This study enlarges the spectrum of APC gene mutations and sheds light on the correlation between the site of APC germline mutations and clinical manifestations of FAP. SN - 1098-1004 UR - https://www.unboundmedicine.com/medline/citation/14961559/The_mutation_spectrum_of_the_APC_gene_in_FAP_patients_from_southern_Italy:_detection_of_known_and_four_novel_mutations_ L2 - https://doi.org/10.1002/humu.9151 DB - PRIME DP - Unbound Medicine ER -