Table 3.
Analysis of mutations detected in male individuals.
| Male patients mutation analysis | n | (%) | age@diag | Healthy |
|---|---|---|---|---|
| Ashkenazi mutation | ||||
| Total | 20 | |||
| A mutation found | 5 | 25.0 | 2 | |
| BRCA1: c.68_69del -p.(Glu23Valfs*17) | 2 | Br (75) | 1 | |
| BRCA1: c.5266dup -p.(Gln1756Profs*74) | 0 | 0 | 0 | |
| BRCA2: c.5946del - p.(Ser1982Argfs*22) | 3 | Br (60); Br (59) | 1 | |
| Non-Ashkenazi mutation (NGS): | 0.0 | 0 | ||
| Total | 3 | |||
| A mutation found | 1 | 33.3 | ||
| BRCA2: c.5351dup - p.(Asn1784Lysfs*3) | 1 | Br (66) | 0 | |
n, number of probands; age@diag, age at diagnosis; Br, Breast Cancer.