Fig. 4

Pedigree of two families fulfilling the criteria for hereditary breast and ovarian cancer. a In this family, all patients that had developed cancer were deceased. We identified a pathogenic BRCA2-mutation NM_000059.3:c.7879A > T,p.(Ile2627Phe) in paraffin-embedded normal tissue from individual 1 (P27). The counselee (2) did not inherit the mutation and could therefore be relieved from her concern to have inherited the genetic predisposition from her mother. b In this family, patient 2, suffering from breast cancer, refused genetic testing. The pathogenic BRCA2-mutation NM_000059.3:c.8167G>C, p.(Asp2723His) was identified in tumor tissue available from individual 1 (P28). Targeted analysis revealed that the daughter (3) also carried the mutation, confirming that the variant identified in tumor tissue from the mother was indeed a germline variant. The daughter was therefore included in a high risk breast- and ovarian cancer screening program