Table 2.
Pathogenic variants in BRCA1 and BRCA2 genes identified in 327 Albanian patients from North Macedonia (NMK) and Kosovo (KS).
| Exon no. | HGVS nomenclature | AA change | Variant ID | Times observed in patients | Times observed in family members |
|---|---|---|---|---|---|
| BRCA1 (NM_007300.3) | |||||
| 11 | c.2933dup | p.Tyr978Ter | rs878853292 | 1 (KS) | 0 |
| 11 | c.3700_3704del | p.Val1234GlnfsTer8 | rs80357609 | 14 (13 KS + 1 NMK) | 1 (KS) |
| BRCA2 (NM_000059.3) | |||||
| 9 | c.775A>T | p.Arg259Ter | rs397507937 | 1 (KS) | 0 |
| 11 | c.5722_5723del | p.Leu1908ArgfsTer2 | rs80359530 | 1 (NMK) | 0 |
| 11 | c.6468_6469del | p.Gln2157IlefsTer18 | rs80359596 | 1 (NMK) | 0 |
| 17 | c.7895del | p.Ala2632GlufsTer16 | – | 1 (KS) | 0 |
| 25 | c.9304del | p.Ala3102GlnfsTer2 | – | 1 (NMK) | 0 |
| 25 | c.9352_9353del | p.Met3118ValfsTer31 | rs786203318 | 1 (KS) | 0 |