Spectrum of Germline BRCA1 and BRCA2 Variants Identified in 2351 Ovarian and Breast Cancer Patients Referring to a Reference Cancer Hospital of Rome

por Santonocito, Concetta, Rizza, Roberta, Paris, Ida, De Marchis, Laura, Paolillo, Carmela, Tiberi, Giordana, Scambia, Giovanni, Capoluongo, Ettore
Publicado 2020

Heterozygous Pathogenic Nonsense Variant in the ATM Gene in a Family with Unusually High Gastric Cancer Susceptibility

por Guadagnolo, Daniele, Mastromoro, Gioia, Marchionni, Enrica, Germani, Aldo, Libi, Fabio, Sadeghi, Soha, Savio, Camilla, Petrucci, Simona, De Marchis, Laura, Piane, Maria, Pizzuti, Antonio
Publicado 2023

Rapid detection of copy number variations and point mutations in BRCA1/2 genes using a single workflow by ion semiconductor sequencing pipeline

por Germani, Aldo, Libi, Fabio, Maggi, Stefano, Stanzani, Gianluca, Lombardi, Augusto, Pellegrini, Patrizia, Mattei, Mauro, De Marchis, Laura, Amanti, Claudio, Pizzuti, Antonio, Torrisi, Maria Rosaria, Piane, Maria
Publicado 2018

Beyond BRCA1 and BRCA2: Deleterious Variants in DNA Repair Pathway Genes in Italian Families with Breast/Ovarian and Pancreatic Cancers

por Germani, Aldo, Petrucci, Simona, De Marchis, Laura, Libi, Fabio, Savio, Camilla, Amanti, Claudio, Bonifacino, Adriana, Campanella, Barbara, Capalbo, Carlo, Lombardi, Augusto, Maggi, Stefano, Mattei, Mauro, Osti, Mattia Falchetto, Pellegrini, Patrizia, Speranza, Annarita, Stanzani, Gianluca, Vitale, Valeria, Pizzuti, Antonio, Torrisi, Maria Rosaria, Piane, Maria
Publicado 2020

Clinical behavior and outcomes of breast cancer in young women with germline BRCA pathogenic variants

por Lambertini, Matteo, Ceppi, Marcello, Hamy, Anne-Sophie, Caron, Olivier, Poorvu, Philip D., Carrasco, Estela, Grinshpun, Albert, Punie, Kevin, Rousset-Jablonski, Christine, Ferrari, Alberta, Paluch-Shimon, Shani, Toss, Angela, Senechal, Claire, Puglisi, Fabio, Pogoda, Katarzyna, Pérez-Fidalgo, Jose Alejandro, De Marchis, Laura, Ponzone, Riccardo, Livraghi, Luca, Estevez-Diz, Maria Del Pilar, Villarreal-Garza, Cynthia, Dieci, Maria Vittoria, Clatot, Florian, Duhoux, Francois P., Graffeo, Rossella, Teixeira, Luis, Córdoba, Octavi, Sonnenblick, Amir, Ferreira, Arlindo R., Partridge, Ann H., Di Meglio, Antonio, Saule, Claire, Peccatori, Fedro A., Bruzzone, Marco, t’Kint de Roodenbeke, Marie Daphne, Ameye, Lieveke, Balmaña, Judith, Del Mastro, Lucia, Azim, Hatem A.
Publicado 2021