Germline testing: who should be tested, how and for what?
How can we integrate the complex and multidisciplinary management of germline BRCA-associated BC?
Do DNA repair mutations beyond germline BRCA matters for patient’s management?
Summary of the Multidisciplinary management of germline and somatic gene alterations in patients with metastatic breast cancer
- BRCA1/2 germline testing is moving to mainstream oncology care in breast cancer patients
- BRCA1/2 germline testing in cancer patients allows cascade testing in relatives at risk to tailor early detection/prevention recommendations
- A multidisciplinary approach is needed to face the multiple implications of germline testing including variants interpretation, cost, and public health policy for cancer prevention
- Management of advanced BRCA1/2 BC patients includes option of targeted therapies and consideration of PBSO (therapeutic and/or preventive)
- PALB2 mutations associated with high BC risk and HRD 🡪 PARPi and platinum
- ATM and CHEK2 BC are ER+/HER2- and lack features of HRD
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