Table 2.
Spectrum of pathogenic variants detected in subjects who selected a MCP
| Gene | MIM# | Number of pathogenic variants (N = 37)a | Detectable using a BCP | |
|---|---|---|---|---|
| n | % | |||
| BRCA1 | 113705 | 14 | 37.8 | Yes |
| BRCA2 | 600185 | 13 | 35.1 | Yes |
| ATM | 607585 | 2 | 5.4 | Yes |
| NBN | 602667 | 1 | 2.7 | Yes |
| PALB2 | 610355 | 1 | 2.7 | Yes |
| PTEN | 601728 | 1 | 2.7 | Yes |
| TP53 | 191170 | 1 | 2.7 | Yes |
| FANCI b | 611360 | 1 | 2.7 | No |
| MUTYH b | 604933 | 3 | 8.1 | No |
aOne subject carried a pathogenic variant in both BRCA2 and MUTYH
bMonoallelic state.