Table 3 Characteristics of the detected BRCA1/2 genetic alterations
Variant | Patients number | Length (pb) | Exon | Variant pathogenicity | Reference |
|---|---|---|---|---|---|
c.66_67delAG (p.Glu23fs) | 2 | 2 | Exon 2 | Pathogenic | Clinvar |
c.2494_2495delCCinsTT (p.Pro832Leu) | 1 | 2 | Exon 10 | Uncertain significance | Current study |
c.4412delG (p.Gly1471fs) | 1 | 1 | Exon 14 | Pathogenic | Clinvar |
c.643delG (p.Glu215Lys) | 1 | 1 | Exon 8 | Pathogenic | Current study |
c.7632_7633delCG (p.Val2545Phe) | 1 | 2 | Exon 16 | Pathogenic | Current study |
13q13.1(32930545–32,930,833)×3 | 1 | 288 | Exon 15 | Uncertain significance | Current study |
17q21.31(41249158–41,251,946)×1 | 1 | 2788 | Exon 7–8 | Pathogenic | Current study |