Figure 1. Diagram of the study
BC, breast cancer; HBOC, hereditary breast and ovarian cancer; PBL,
peripheral blood lymphocytes; CSCE, conformation-sensitive capillary
electrophoresis; MLPA, multiplex, ligation-dependent probe
amplification; NGS, next generation sequencing; P, pathogenic; LP,
likely pathogenic; VUS, variant of unknown significance; ERA,
established risk allele.