Article
Identification and Characterization of a New BRCA2 Rearrangement in an Italian Family with Hereditary Breast and Ovarian Cancer Syndrome.
Molecular diagnosis & therapy - 1 Oct 2017
Concolino Paola, Rizza Roberta, Hackmann Karl, Minucci Angelo, Scaglione Giovanni Luca, De Bonis Maria, Costella Alessandra, Zuppi Cecilia, Schrock Evelin, Capoluongo Ettore
Abstract excerpt
INTRODUCTION: Many studies document the involvement of BRCA1/2 gene rearrangements in genetic predisposition to breast and ovarian cancer. Large genomic rearrangements (LGRs) of BRCA1 account for 0-27% of all disease-causing mutations in various populations, while LGRs in BRCA2 are rarer. Here, we describe a novel BRCA2 LGR, involving the duplication of exons 4-26, in an Italian family with hereditary breast and...
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