Integrative genomic and transcriptomic analyses illuminate the ontology of HER2-low breast carcinomas.

Enrico BerrinoLaura AnnaratoneSara Erika BellomoGiulio FerreroAmedeo GagliardiAlberto BragoniDora GrassiniSimonetta GuarreraCaterina ParlatoLaura CasorzoMara PaneroIvana SarottoSilvia GiordanoMatteo CeredaFilippo MontemurroRiccardo PonzoneNicola CrosettoAlessio NaccaratiAnna SapinoCaterina Marchio

Published in: Genome medicine (2022)

HLBCs harbor distinct genomic features when compared with HER2-positive and HER2-negative BCs; however, differences across IHC classes were also unveiled thus dissecting the full picture of heterogeneity across HER2-low disease. The HLBC-2E category harbors most distinctive features, whereas HLBC-1 seems superimposable to HER2-negative disease. Further studies are needed to ascertain whether the four genomic-driver classes of the LAURA classification hold prognostic and/or predictive implications.

Keyphrases

copy number
single cell
machine learning
deep learning
rna seq
high grade
gene expression
dna methylation
network analysis