Advances in the Molecular Basis of BRCA-Associated Cancers

Dear Colleagues,

BRCA1 and BRCA2 (BRCA) are tumor suppressor genes, encoding proteins involved in homologous recombination DNA repair pathways. Inherited mutations in BRCA genes are well known for their predisposition to the hereditary breast and ovarian cancer syndrome in women, but they have also been observed in association with additional types of cancers, including male breast, prostate, pancreatic, and melanoma.

Next-generation sequencing technology affords an unprecedented opportunity to analyze BRCA genes in a cost-effective way, allowing for the analysis of a large number of cancer patients, but, on the other hand, it poses challenges in the functional interpretation of the higher number of variants of unknown significance that are identified.

To date, key clinical improvements have been derived from the identification of peculiar tumor molecular subtypes associated with BRCA mutational status, e.g., triple-negative breast cancers, which are characterized by their aggressive behavior.

Personalized therapeutic strategies in BRCA-associated tumors, such as the use of PARP inhibitors, have proved very promising and have been incorporated into the clinical setting.

This Special Issue will focus on the molecular biology of BRCA genes, the functional evaluation of BRCA variants, genotype–phenotype correlations, the molecular profiling of BRCA-associated tumors, BRCA interactors in DNA repair, synthetic lethality, and other possible therapeutic mechanisms. Original research articles, reviews, and short communications related to these topics are welcomed.

Dr. Valentina Silvestri
Guest Editor

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