Table 2 Spectrum of pathogenic variants detected in subjects who selected a MCP
From: Predictors of next-generation sequencing panel selection using a shared decision-making approach
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 |
