Article
Identification of the first case of germline duplication of BRCA1 exon 13 in an Italian family.
Familial cancer - 1 Sept 2010
Cerutti Roberta, Sahnane Nora, Carnevali Ileana, Furlan Daniela, Tibiletti Maria Grazia, Chiaravalli Anna Maria, Capella Carlo
Abstract excerpt
In this work we report for the first time a family in Italy with the BRCA1 ins6kbEx13 mutation, a recurrent founder mutation originating from northern Britain. After the initial identification of exon 13 duplication by multiplex ligation-dependent probe amplification (MLPA assay), we confirmed the identity of the alteration with the previously published BRCA1 ins6kbEx13 mutation, by mutation specific PCR and...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.