Article
Revertant mosaicism for family mutations is not observed in BRCA1/2 phenocopies.
PloS one - 1 Jan 2017
Azzollini Jacopo, Pesenti Chiara, Ferrari Luca, Fontana Laura, Calvello Mariarosaria, Peissel Bernard, Portera Giorgio, Tabano Silvia, Carcangiu Maria Luisa, Riva Paola, Miozzo Monica, Manoukian Siranoush
Abstract excerpt
In BRCA1/2 families, early-onset breast cancer (BrCa) cases may be also observed among non-carrier relatives. These women are considered phenocopies and raise difficult counselling issues concerning the selection of the index case and the residual risks estimate in negative family members. Few studies investigated the presence of potential genetic susceptibility factors in phenocopies, mainly focussing on...
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