Table 2 BRCA1/2 sequencing results
| Â | Alteration type | Gene | Variant Name | Zygosity | Quality score | Variant Effect | Cancer Type | Germline /Somatic |
|---|---|---|---|---|---|---|---|---|
Patient 1 | SNV | BRCA1 | c.66_67delAG (p.Glu23fs) | heterozygous | 842 | Frame-shift | TNBC and HGSC | Germline |
Patient 1 | SNV | BRCA1 | c.66_67delAG (p.Glu23fs) | Heterozygous/ Homozygote | 1089 | Frame-shift | TNBC and HGSC | Germline |
Patient 3 | SNV | BRCA1 | c.2494_2495delCCinsTT (p.Pro832Leu) | heterozygous | 2018 | In Frame | TNBC | Germline |
Patient 4 | SNV | BRCA1 | c.4412delG (p.Gly1471fs) | heterozygous | 318 | Frame-shift | HGSC | Somatic |
Patient 5 | SNV | BRCA2 | c.643delG (p.Glu215Lys) | heterozygous | 993 | Frame-shift | TNBC | Germline |
Patient 6 | SNV | BRCA2 | c.7632_7633delCG (p.Val2545Phe) | homozygous | 1984 | Frame-shift | HGSC | Somatic |
Patient 7 | CNV | BRCA2 | 13q13.1(32930545–32,930,833)×3 | – | 36 | Large Duplication | HGSC | Somatic |
Patient 8 | CNV | BRCA1 | 17q21.31(41249158–41,251,946)×1 | – | 48 | Large Deletion | TNBC | Germline |