Journal article

Tracking of the origin of recurrent mutations of the BRCA1 and BRCA2 genes in the North-East of Italy and improved mutation analysis strategy

Giulia Cini, Massimo Mezzavilla, Lara Della Puppa, Elisa Cupelli, Alessio Fornasin, Angela Valentina D'Elia, Riccardo Dolcetti, Giuseppe Damante, Sara Bertok, Gianmaria Miolo, Roberta Maestro, Paolo de Paoli, Antonio Amoroso, Alessandra Viel

BMC Medical Genetics | BMC | Published : 2016


BACKGROUND: About 20 % of hereditary breast cancers are caused by mutations in BRCA1 and BRCA2 genes. Since BRCA1 and BRCA2 mutations may be spread throughout the gene, genetic testing is usually performed by direct sequencing of entire coding regions. In some populations, especially if relatively isolated, a few number of recurrent mutations is reported, sometimes caused by founder effect. METHODS: BRCA1 and BRCA2 screening for mutations was carried out on 1114 breast and/or ovarian cancer patients complying with the eligibility criteria for BRCA testing. Haplotype analysis was performed on the probands carrying recurrent mutations and their relatives, using two sets of microsatellite marke..

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