HR⁺/HER2^- de novo metastatic breast cancer: a true peculiar entity?

ABSTRACT: De novo metastatic breast cancer (dnMBC) accounts for ~6-10% of all breast cancers and for ~30% of MBC with increasing incidence over time. Hormone receptor-positive/human epidermal growth factor receptor 2-negative (HR⁺/HER2^-) tumours are the most frequent subtype with a similar incidence to that observed amongst recurrent MBC (rMBC). Higher frequency of PI3KCA and ARID2 mutations and a lower frequency of ESR1 mutations and of genes involved in DNA damage, as compared with rMBC, have been reported in HR⁺/HER2^- dnMBC; however, these are not correlating with prognosis, whilst tumour mutational burden is inversely correlated with outcome. Bone represents the most frequent metastatic site, being the single site in up to 60% of p

SUBMITTER: Torrisi R 

PROVIDER: S-EPMC10012832 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature