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Recurrent <it>APC </it>gene mutations in Polish FAP families

By Pławski Andrzej, Podralska Marta and Słomski Ryszard

Abstract

<p>Abstract</p> <p>The molecular diagnostics of genetically conditioned disorders is based on the identification of the mutations in the predisposing genes. Hereditary cancer disorders of the gastrointestinal tracts are caused by mutations of the tumour suppressor genes or the DNA repair genes. Occurrence of recurrent mutation allows improvement of molecular diagnostics. The mutation spectrum in the genes causing hereditary forms of colorectal cancers in the Polish population was previously described. In the present work an estimation of the frequency of the recurrent mutations of the <it>APC </it>gene was performed. Eight types of mutations occurred in 19.4% of our FAP families and these constitute 43% of all Polish diagnosed families.</p

Topics: FAP, <it>APC </it>gene, mutations, Polish population, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282, Internal medicine, RC31-1245, Medicine, R, DOAJ:Oncology, DOAJ:Medicine (General), DOAJ:Health Sciences, Genetics, QH426-470
Publisher: BioMed Central
Year: 2007
DOI identifier: 10.1186/1897-4287-5-4-195
OAI identifier: oai:doaj.org/article:13f8082db20a4b6398714c482153f55c
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