Follow-up of tissue genomics in BRCA1/2 carriers who underwent prophylactic surgeries.

Vassiliki KotoulaKyriaki PapadopoulouIoannis TikasFlorentia FostiraEleni VrettouSofia ChrisafiElena FountzilasGeorgia-Angeliki KoliouParaskevi ApostolouKonstantinos PapazisisThomas ZaramboukasAnthoula Asimaki-VlachopoulouSpyros MiliarasAnanias AnaniadisChristos PouliosIoannis NatsiopoulosAris TsiftsoglouEfterpi DemiriGeorge Fountzilas

Published in: Breast cancer (Tokyo, Japan) (2021)

This real-life case study supports the need to address tissue genotypes from prophylactic surgeries in combination with polygenic scores towards personalized prophylaxis. To this end, knowing the traditionally classified pathogenic potential of a gBRCA1/2 variant may not be enough.

Keyphrases

single cell
risk assessment