All the PVs detected in our series have been previously described as disease-causing agents (BC families, Li-Fraumeni syndrome, Lynch syndrome, or ataxia-telangiectasia) [11,14,15,16,17,18,19,20,21,22,23,24], except for the BRIP1 NM_032043.2:c.508-2A > T (rs876659797) and CASP8 NM_01228.4: c.331delG (rs776712453). Here, CASP8 is linked to Ataxia-telangiectasia.