Pathological Features of BRCA1/BRCA2 Mutation-Associated Breast Cancer: Implications for Diagnostics and Treatment

Abstract

Pathological Features ofBRCA1/BRCA2Mutation-Associated Breast Cancer: Implications for Diagnostics and TreatmentBRCA1andBRCA2gene mutations are responsible for significant hereditary breast cancer burden.BRCA1/2mutation-associated breast cancers (furtherBRCA1orBRCA2cancers) are distinctive not only by family history but also by the biological features of the tumour influencing both diagnostic possibilities and response to different treatment modalities. Distinctive morphology and immunohistochemical phenotype of hereditary breast cancers may help to identify patients who are likely to carry germ line mutations inBRCA1orBRCA2gene. The efficacy of specific treatment options can be predicted as well. Additionally,BRCA1carcinomas have different histopathological manifestations fromBRCA2cancers. The cellular and molecular characteristics ofBRCA1/2breast cancer can explain the clinical data and provide prognostic and predictive information. Here, we discuss the peculiarities of breast cancer inBRCA1/2mutation carriers having significant implications in the diagnostics, surgical approach and overall planning of treatment.