Genetic and clinical characterization of BRCA-associated hereditary breast and ovarian cancer in Navarra (Spain).

Ainara Ruiz de SabandoEdurne Urrutia LafuenteFermín García-AmigotAngel Alonso SánchezLourdes Morales GarofaloSira MorenoEva ArdanazMaria A Ramos-Arroyo

Published in: BMC cancer (2019)

In addition to national similarities in the HBOC-BRCA1/2 associated mutational spectrum, we identified a recurrent BRCA2 pathogenic variant (c.6024dupG), highly associated to OC in Navarra. Carriers of BRCA1/2 mutations showed a more severe BC and OC phenotype and had a worse overall prognosis when compared to a large cohort of women with sporadic counterpart tumors.

Keyphrases

breast cancer risk
gene expression
early onset
copy number