Table 1 Frequency of total pathogenic and actionable variants in breast and ovarian cancer susceptibility genes
From: Population-based genetic testing of asymptomatic women for breast and ovarian cancer susceptibility
Gene | Nucleotide RefSeq ID | LoF | Pathogenic missense | LGR | High-risk actionable PV (%) | Moderate-risk nonactionable PV (%) | Total (%) | No. samples screened | ExAC NFE LoF PV frequency (%)b |
|---|---|---|---|---|---|---|---|---|---|
BRCA1 | NM_007294.3 | 5a | – | 1a | 6 (0.10%) | – | 6 (0.10%) | 5908 | 0.32% |
BRCA2 | NM_000059.3 | 15a | – | – | 15 (0.25%) | – | 15 (0.25%) | 5908 | 0.43%c |
PALB2 | NM_024675.3 | 14a | – | – | 14 (0.24%) | – | 14 (0.24%) | 5908 | 0.13% |
ATM | NM_000051.3 | 15 | 3a | – | 3 (0.05%) | 15 (0.25%) | 18 (0.30%) | 5908 | 0.31%d |
CDH1 | NM_004360.3 | – | – | – | – | – | 0 | 5908 | 0.015% |
PTEN | NM_000314.4 | – | – | – | – | – | 0 | 5908 | 0.002% |
STK11 | NM_000455.4 | – | – | – | – | – | 0 | 5908 | 0.000% |
TP53 | NM_000546.5 | – | – | – | – | – | 0 | 5908 | 0.002% |
BRIP1 | NM_032043.2 | 10 | – | – | – | 10 (0.17%) | 10 (0.17%) | 5908 | 0.19% |
RAD51C | NM_058216.1 | 2 | – | – | – | 2 (0.04%) | 2 (0.04%) | 4915 | 0.11% |
RAD51D | NM_002878.3 | 2 | – | – | – | 2 (0.04%) | 2 (0.04%) | 4915 | 0.04% |
Total: | Â | Â | Â | Â | 38 (0.64%) | 29 (0.49%) | 67 (1.13%) | Â | Â |
