APC gene mutations causing familial adenomatous polyposis in Polish patients |
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Authors: | Andrzej Plawski Ryszard Slomski |
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Institution: | (1) Molecular Diagnostics Laboratory, I/R-RP, National Center of Scientific Research "Demokritos", Athens, Greece;(2) Laboratory of Gene Expression, Molecular Diagnosis and Modern Therapeutics, Department of Molecular Biology and Genetics, Democritus University of Thrace, Alexandroupolis, Greece;(3) Department of Medical Oncology, Papageorgiou Hospital, Aristotle University of Thessaloniki School of MedicineThessaloniki, Greece;(4) Hellenic Cooperative Oncology Group, Athens, Greece |
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Abstract: | Familial adenomatous polyposis (FAP) is a well-known hereditary condition characterised by alimentary system tumours. Tens
to thousands of polyps occur in the colon and rectum of the patients. There is a high heterogeneity with regard to the number
and time of the occurrence of polyps. The occurrence of FAP is associated with mutations in theAPC tumour suppressor gene, which was described in 1991. Since then, many studies have been done to analyse the distribution
of mutations in individual populations and to determine the function of the gene and a diagnostic approach to FAP. Here theAPC gene was studied with respect to the occurrence of small mutations and large rearrangements in 300 unrelated Polish FAP families.
Ninety-seven mutations were identified in 164 families. Out of these mutations, 80 were small mutations, including 58 small
mutations that were first identified in the Polish population (42 novel and 16 described previously). An increased frequency
of mutation c.3927_3931delAAAGA was observed in 10% of the Polish group. Seventeen large rearrangements were found in 29 families.
Out of those rearrangements, 8 repeat rearrangements occurred in 20 families. A problem in fast molecular diagnostics of FAP
is a high heterogeneity of mutations in theAPC gene. It seems that a multiplex ligation-dependent probe amplification test and searching for small mutations by the use
of screening methods at the 5’ end of exon 15 and exons 14, 9, 11, 13, 5, and 3, help to improve the molecular diagnostics
of FAP in Polish patients. |
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