BRCA1 185delAG MUTATION CAN BE EASILY DETECTED BY AN ADAPTED ALLELE-SPECIFIC PCR

• Main Authors: Anca Negura, Lucian Negura
• Format: Article
• Language: English
• Published: "Alexandru Ioan Cuza" University of Iași 2012-03-01
• Series: Analele Ştiinţifice Ale Universităţii Alexandru Ioan Cuza din Iași,Sectiunea II A : Genetica si Biologie Moleculara
• Online Access: http://www.gbm.bio.uaic.ro/index.php/gbm/article/view/948

BRCA1 gene accounts for a majority of hereditary breast and ovarian cancers. Germinal deleteriousmutations within this gene are directly responsible for the disease, with a lifetime risk of cancer for mutations carriers ofabout 80%. While outbred and western populations usually show a heterogeneous profile of unique and familialmutations, in isolated and eastern European populations some recurrent mutations can be afforded the most responsibilityfor familial hereditary cases. In Ashkenazi Jewish and most Slavic eastern population, the BRCA1 185delAG is one of themost frequent mutations. Therefore, rapid screening by PCR-based methods can be useful in oncogenetic diagnosis. Herewe present implementation of an adapted allele-specific PCR for the detection of 185delAG, with wide applications indiagnosis and genotyping for large population groups.