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Description and interpretation of various SNPs identified by BRCA2 gene sequencing

Author(s): Anca Negura | Nancy Uhrhammer | Yves-Jean Bignon | Lucian Negura

Journal: Analele Ştiinţifice Ale Universităţii Alexandru Ioan Cuza din Iași,Sectiunea II A : Genetica si Biologie Moleculara
ISSN 1582-3571

Volume: 12;
Issue: 4;
Start page: 47;
Date: 2011;
Original page

Molecular diagnosis for hereditary breast and ovarian cancer (HBOC) involves systematic DNA sequencing of predisposition genes like BRCA1 or BRCA2. Deleterious mutations within such genes are responsible for developing the disease, but other sequence variants can also be identified. Common Single Nucleotide Polymorphisms (SNPs) are usually present in human genome, defining alleles whose frequencies widely vary in different populations. Either intragenic or intronic, silent or generating aminoacid substitutions, SNPs cannot be afforded themselves a predisposition status. However, prevalent SNPs can be used to define gene haplotypes, with also various frequencies. Since some mutation can easily be assigned to haplotypes (such is the case for BRCA1 gene), SNPs can therefore provide usual information in interpreting gene mutations effects on hereditary predisposition to cancer. Here we describe 10 BRCA2 SNPs identified by complete gene sequencing
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