Table 3.
Recurrent pathogenic variants identified in our study.
| Genes | cDNA Position | Protein | Frequency | % |
|---|---|---|---|---|
| BRCA1 | c.5266dup | p.(Gln1756Profs*14) | 15 | 7.4 |
| c.3481_3491del | p.(Glu1161Phefs*3) | 10 | 5 | |
| c.1115G>A | p.(Trp372*) | 9 | 4 | |
| c.4391del | p.(Pro1464Leufs*2) | 5 | 2 | |
| c.4327C>T | p.(Arg1443*) | 4 | 2 | |
| c.3756_3759delGTCT | p.(Ser1253Argfs*10) | 4 | 2 | |
| c.191G>A | p.(Cys64Tyr) | 4 | 2 | |
| BRCA2 | c.4889C>G | p.(Ser1630*) | 11 | 5 |
| c.3847_3848delGT | p.Val1283Lysfs*2 | 7 | 4 | |
| c.9294C>A | p.(Tyr3098*) | 6 | 3 | |
| c.1813dupA | p.(Ile605Asnfs*11) | 6 | 3 | |
| c.1310_1313delAAGA | p.(Lys437Ilefs*22) | 6 | 3 | |
| c.7680dup | p.(Gln2561Serfs*5) | 5 | 3 | |
| c.8364G>A | p.Trp2788* | 4 | 2 | |
| c.2612C>A | p.(Ser871*) | 4 | 2 | |
| c.5909C>A | p.(Ser1970*) | 4 | 2 | |
| RAD51C | c.1026+5_1026+7delGTA | p.(Arg322Serfs*22) | 9 | 25 |
| c.965+5G>A | p.(Glu303Trpfs*41) | 7 | 19 | |
| RAD51D | c.803G>A | p.(Trp268*) | 5 | 40 |
| c.170del | p.(Leu57Argfs*10) | 4 | 30 | |
| PALB2 | c.2257C>T | p.(Arg753*) | 3 | 7 |
| c.1915G>T | p.(Glu639*) | 3 | 7 |
Note: %: percentage of recurrent mutations compared to the total number of mutations observed in the same gene.