Gene/s sequencing in hereditary breast/ovary cancer (HBOC) in routine diagnosis is challenged by the analysis of panels. We aim to report a retrospective analysis of and non- gene sequencing in patients with breast/ovary cancer (BOC), including triple-negative breast cancer (TNBC), in our population. In total 2155 BOC patients (1900 analyzed in and 255 by multigenic panels) gave 372 (17.2.6%) and 107 (24.1%) likely pathogenic/pathogenic variants (LPVs/PVs), including and non- genes, for the total and TNBC patients, respectively. When BOC was present in the same proband, a 51.3% rate was found for LPVs/PVs in . Most of the LPVs/PVs in the panels were in ; non- gene LPVs/PVs were in , and . TNBC is associated with at a higher rate than the rest of the breast cancer types. The more prevalent PVs in genes (mostly in ) do not rule out the importance to panels of genes, although they are certainly far from shedding light on the gap of the 85% predicted linkage association of BOC with and are still not elucidated.
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| http://dx.doi.org/10.3390/cancers13112711 | DOI Listing |
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