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Profiling of the genetic features of patients with breast, ovarian, colorectal and extracolonic cancers: Association to CHEK2 and PALB2 germline mutations

Infante Sanz, María Del Mar ; Arranz Ledo, Mónica ; Lastra, Enrique; Olaverri, Amaya; Ferreira, Raquel; Orozco, Marta; Hernández Sanz, Lara; Martínez Martín, Noemí; Duran Dominguez, María Mercedes (2024)
Systematic Minigene-Based Splicing Analysis and Tentative Clinical Classification of 52 CHEK2 Splice-Site Variants

Sanoguera Miralles, Lara; Valenzuela Palomo, Alberto; Bueno Martínez, Elena ; Esteban Sánchez, Ada; Lorca, Víctor; Llinares Burguet, Inés; García Álvarez, Alicia; Pérez Segura, Pedro; Infante Sanz, María Del Mar ; Easton, Douglas F; Devilee, Peter; Vreeswijk, Maaike P G; de la Hoya, Miguel; Velasco Sampedro, Eladio Andrés (2024)
A comprehensive custom panel evaluation for routine hereditary cancer testing: improving the yield of germline mutation detection

Velázquez Pérez, Carolina; Lastra, Enrique; Avila Cobos, Francisco; Abella, Luis Enrique; de la Cruz, Virginia; Hernando, Blanca Ascensión; Hernández Sanz, Lara; Martínez Martín, Noemí; Infante Sanz, María Del Mar ; Duran Dominguez, María Mercedes (2020)
A PALB2 truncating mutation: Implication in cancer prevention and therapy of Hereditary Breast and Ovarian Cancer

Velázquez Pérez, Carolina; Esteban Cardeñosa, Eva; Lastra, Enrique; Abella, Luis Enrique; de la Cruz, Virginia; Domínguez Lobatón, María Carmen ; Duran Dominguez, María Mercedes ; Infante Sanz, María Del Mar (2019)
Unraveling the molecular effect of a rare missense mutation in BRIP1 associated with inherited breast cancer

Velázquez Pérez, Carolina; Esteban Cardeñosa, Eva; Lastra, Enrique; Abella, Luis Enrique; de la Cruz, Virginia; Domínguez Lobatón, María Carmen ; Duran Dominguez, María Mercedes ; Infante Sanz, María Del Mar (2019)