Scientific publications

A novel BRCA1 mutation in a patient with breast and ovarian cancer: A case report.

Salgado J [SP], Santisteban M, Gutiérrez C, Gil C, Robles M, Viedma A, Patiño-García A [SP].

Magazine: Oncology Letters

Date: Sep 15, 2013

Medical Oncology Breast Cancer Area Clinical Genetics Unit [SP]

Germline mutations in the human breast cancer genes BRCA1 and BRCA2 account for a substantial proportion of familial, early-onset breast and ovarian cancers.

The present study reports a novel disease-causing BRCA1 mutation, nucleotide 3020insCT/c.2901insCT, in a 55-year-old Spanish female with breast and ovarian cancer.

This frameshift mutation creates a premature stop codon at amino acid 1000, leading to a truncated BRCA1 protein. To the best of our knowledge, this mutation has not been previously described in the Breast Cancer Information Core (BIC) database or the published literature.

CITATION  Oncol Lett. 2013 Sep;6(3):725-727. Epub 2013 Jul 3.

you mayBE INTERESTED

WHAT TECHNOLOGY
DO WE USE?

The Clínica is the greater private hospital with technological equipment of Spain, all in a single center.

Imagen de un PET, tecnología de vanguardia en la Clínica Universidad de Navarra

OUR
PROFESSIONALS

The professionals of the Clínica perform continuous research and training, always to the benefit of the patient.

Imagen profesionales de la Clínica Universidad de Navarra

WHY CHOOSE
THE CLINICA?

Learn why we are different from other healthcare centers. Quality, speed, comfort and results.

Imagen del edificio de la Clínica Universidad de Navarra