ARTÍCULO

A novel mutation in BRCA1 linked to breast and ovarian cancer and a genotype-phenotype correlation

Autores: Salgado Garrido, Josefa; Aramendía Beitia, José Manuel; Gutiérrez Povedano, Cristina; Gil Galochino, María Carmen; Robles, M.; García-Foncillas López, Jesús Miguel
Título de la revista: ONCOLOGY LETTERS
ISSN: 1792-1074
Volumen: 2
Número: 5
Páginas: 807-9
Fecha de publicación: 2011
Resumen:
We report a novel BRCA1 germline 4156delAA mutation detected in a 41-year-old woman with breast and ovarian cancer. Genomic DNA was obtained from peripheral blood. Standard polymerase chain reactions and direct sequencing were performed.