Whole genome (WGS) or targeted gene panelsequencing can detect in a clinical setting BCs with germlineand somatic HRR gene mutations that benefit from PARPi andplatinum salts therapy. Sequencing fails to identify a residualthird of HRR-deficient BCs caused by epigenetic modificationsor with restored HRR function. There is an urgent need for theclinical validation of functional biomarkers for HRR status ableto fill this gap of sensitivity.
Pellegrino, B., Tommasi, C., Solinas, C., Campanini, N., Silini, E.M., Musolino, A. (2021). The future potential of genome-wide mutational profiles in HRD detection in breast cancer. EXPERT REVIEW OF MOLECULAR DIAGNOSTICS, 22, 1-3 [10.1080/14737159.2022.2015328].
The future potential of genome-wide mutational profiles in HRD detection in breast cancer
Musolino, AntoninoUltimo
Conceptualization
2021
Abstract
Whole genome (WGS) or targeted gene panelsequencing can detect in a clinical setting BCs with germlineand somatic HRR gene mutations that benefit from PARPi andplatinum salts therapy. Sequencing fails to identify a residualthird of HRR-deficient BCs caused by epigenetic modificationsor with restored HRR function. There is an urgent need for theclinical validation of functional biomarkers for HRR status ableto fill this gap of sensitivity.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
