Table 4.
Double heterozygous pathogenic variants identified in our study.
| Gene | Diagnosis | Variant | Protein Effect | Class |
|---|---|---|---|---|
| Patient 1 | ||||
| BRCA1 | Uterus cancer at 30 years. Triple-negative breast carcinoma at 33 years |
c.5309G>T | p.(Gly1770Val) | 5 |
| BRCA2 | c.7234_7235insG | p.(Thr2412Serfs*2) | 5 | |
| Patient 2 | ||||
| BRCA1 | Breast carcinoma at 36 years, contralateral triple-negative breast carcinoma at 62 years | c.212+3A>G | p.Cys64fs* | 5 |
| RAD51C | c.1026+5_1026+7delGTA | p.(Arg322Serfs*22) | 5 | |
| Patient 3 | ||||
| BRCA2 | Breast carcinoma at 55 years | c.9097dupA | p.(Thr3033fs) | 5 |
| RAD51C | c.905-2del | p.(Glu303Trpfs*41) | 5 | |
| Patient 4 | ||||
| BRCA2 | Ovarian cancer | c.1842dupT | p.(Asn615*) | 5 |
| RAD51C | c.773G>A | p.(Arg258His) | 5 | |
| Patient 5 | ||||
| BRCA2 | Epithelial thyroid cancer at 29 years Breast carcinoma at 37 years |
c.3645_3646delGTinsTAAAAAG | p.(Phe1216Lysfs*14) | 5 |
| PTEN | c.1003C>T | p.(Arg335*) | 5 | |