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Rare mutations predisposing to familial adenomatous polyposis in Greek FAP patients.
BMC Cancer. 2005 Apr 15; 5:40.BC

Abstract

BACKGROUND

Familial Adenomatous Polyposis (FAP) is caused by germline mutations in the APC (Adenomatous Polyposis Coli) gene. The vast majority of APC mutations are point mutations or small insertions/deletions which lead to truncated protein products. Splicing mutations or gross genomic rearrangements are less common inactivating events of the APC gene.

METHODS

In the current study genomic DNA or RNA from ten unrelated FAP suspected patients was examined for germline mutations in the APC gene. Family history and phenotype were used in order to select the patients. Methods used for testing were dHPLC (denaturing High Performance Liquid Chromatography), sequencing, MLPA (Multiplex Ligation - dependent Probe Amplification), Karyotyping, FISH (Fluorescence In Situ Hybridization) and RT-PCR (Reverse Transcription - Polymerase Chain Reaction).

RESULTS

A 250 Kbp deletion in the APC gene starting from intron 5 and extending beyond exon 15 was identified in one patient. A substitution of the +5 conserved nucleotide at the splice donor site of intron 9 in the APC gene was shown to produce frameshift and inefficient exon skipping in a second patient. Four frameshift mutations (1577insT, 1973delAG, 3180delAAAA, 3212delA) and a nonsense mutation (C1690T) were identified in the rest of the patients.

CONCLUSION

Screening for APC mutations in FAP patients should include testing for splicing defects and gross genomic alterations.

Authors+Show Affiliations

Molecular Biology Research Center HYGEIA-Antonis Papayiannist, Athens, Greece. m.mihalat@hygeia.grNo 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 availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

15833136

Citation

Mihalatos, Markos, et al. "Rare Mutations Predisposing to Familial Adenomatous Polyposis in Greek FAP Patients." BMC Cancer, vol. 5, 2005, p. 40.
Mihalatos M, Apessos A, Dauwerse H, et al. Rare mutations predisposing to familial adenomatous polyposis in Greek FAP patients. BMC Cancer. 2005;5:40.
Mihalatos, M., Apessos, A., Dauwerse, H., Velissariou, V., Psychias, A., Koliopanos, A., Petropoulos, K., Triantafillidis, J. K., Danielidis, I., Fountzilas, G., Agnantis, N. J., & Nasioulas, G. (2005). Rare mutations predisposing to familial adenomatous polyposis in Greek FAP patients. BMC Cancer, 5, 40.
Mihalatos M, et al. Rare Mutations Predisposing to Familial Adenomatous Polyposis in Greek FAP Patients. BMC Cancer. 2005 Apr 15;5:40. PubMed PMID: 15833136.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Rare mutations predisposing to familial adenomatous polyposis in Greek FAP patients. AU - Mihalatos,Markos, AU - Apessos,Angela, AU - Dauwerse,Hans, AU - Velissariou,Voula, AU - Psychias,Aristidis, AU - Koliopanos,Alexander, AU - Petropoulos,Konstantinos, AU - Triantafillidis,John K, AU - Danielidis,Ioannis, AU - Fountzilas,George, AU - Agnantis,Niki J, AU - Nasioulas,Georgios, Y1 - 2005/04/15/ PY - 2005/01/20/received PY - 2005/04/15/accepted PY - 2005/4/19/pubmed PY - 2006/3/28/medline PY - 2005/4/19/entrez SP - 40 EP - 40 JF - BMC cancer JO - BMC Cancer VL - 5 N2 - BACKGROUND: Familial Adenomatous Polyposis (FAP) is caused by germline mutations in the APC (Adenomatous Polyposis Coli) gene. The vast majority of APC mutations are point mutations or small insertions/deletions which lead to truncated protein products. Splicing mutations or gross genomic rearrangements are less common inactivating events of the APC gene. METHODS: In the current study genomic DNA or RNA from ten unrelated FAP suspected patients was examined for germline mutations in the APC gene. Family history and phenotype were used in order to select the patients. Methods used for testing were dHPLC (denaturing High Performance Liquid Chromatography), sequencing, MLPA (Multiplex Ligation - dependent Probe Amplification), Karyotyping, FISH (Fluorescence In Situ Hybridization) and RT-PCR (Reverse Transcription - Polymerase Chain Reaction). RESULTS: A 250 Kbp deletion in the APC gene starting from intron 5 and extending beyond exon 15 was identified in one patient. A substitution of the +5 conserved nucleotide at the splice donor site of intron 9 in the APC gene was shown to produce frameshift and inefficient exon skipping in a second patient. Four frameshift mutations (1577insT, 1973delAG, 3180delAAAA, 3212delA) and a nonsense mutation (C1690T) were identified in the rest of the patients. CONCLUSION: Screening for APC mutations in FAP patients should include testing for splicing defects and gross genomic alterations. SN - 1471-2407 UR - https://www.unboundmedicine.com/medline/citation/15833136/Rare_mutations_predisposing_to_familial_adenomatous_polyposis_in_Greek_FAP_patients_ L2 - https://bmccancer.biomedcentral.com/articles/10.1186/1471-2407-5-40 DB - PRIME DP - Unbound Medicine ER -