Recurrent APC gene mutations in Polish FAP families

被引：7

作者：

Pławski A. ^{[1
,2
]}

Podralska M. ^{[1
]}

Słomski R. ^{[1
]}

机构：

[1] Institute of Human Genetics, Polish Academy of Sciences, Poznan

[2] Institute of Human Genetics, Polish Academy of Sciences, 60-479 Poznan

来源：

Hereditary Cancer in Clinical Practice | / 5卷 / 4期

关键词：

APC gene; FAP; Mutations; Polish population;

D O I：

10.1186/1897-4287-5-4-195

中图分类号：

学科分类号：

摘要：

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 APC gene was performed. Eight types of mutations occurred in 19.4% of our FAP families and these constitute 43% of all Polish diagnosed families.

引用

页码：195 / 198

页数：3

共 11 条

[1]

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