A Paternally Inherited BRCA1 Mutation Associated with an Unusual Aggressive Clinical Phenotype

Abstract EN

This report highlights the necessity of genetic testing, at least for BRCA1 mutations, of young females diagnosed with triple negative breast cancer, even in the absence of or limited family history.

A 34-year-old female with a locally advanced, triple negative tumour, which perforated the skin, is described.

At the time of diagnosis, the patient had already multiple lung metastases and although chemotherapy was started immediately, she died with rapid systemic disease progression.

The patient was found to carry the BRCA1 p.E1060X mutation, which is located on exon 11 of the gene.

The high penetrance of BRCA1 gene is not represented in the patient’s family, since the mutation was paternally inherited.

It is evident that females belonging to small families, along with paternal inheritance of pathogenic BRCA mutations that predispose for breast cancer, in most cases will probably be genetically tested only after being diagnosed with cancer.