Publications:

Revertant mosaicism for family mutations is not observed in BRCA1/2 phenocopies.

Plos One

Azzollini, Jacopo J; Pesenti, Chiara C; Ferrari, Luca L; Fontana, Laura L; Calvello, Mariarosaria M; Peissel, Bernard B; Portera, Giorgio G; Tabano, Silvia S; Carcangiu, Maria Luisa ML; Riva, Paola P; Miozzo, Monica M; Manoukian, Siranoush S

Publication Date: 2017

Variant appearance in text: BRCA2: G2919Vfs*4

PubMed Link: 28199346

Variant Present in the following documents:

• Main text
• pone.0171663.pdf
• pone.0171663.s001.pdf

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Comparative in vitro and in silico analyses of variants in splicing regions of BRCA1 and BRCA2 genes and characterization of novel pathogenic mutations.

Plos One

Colombo, Mara M; De Vecchi, Giovanna G; Caleca, Laura L; Foglia, Claudia C; Ripamonti, Carla B CB; Ficarazzi, Filomena F; Barile, Monica M; Varesco, Liliana L; Peissel, Bernard B; Manoukian, Siranoush S; Radice, Paolo P

Publication Date: 2013

Variant appearance in text: BRCA2: Gly2919ValfsX4

PubMed Link: 23451180

Variant Present in the following documents:

• Main text
• pone.0057173.pdf

View BVdb publication page