Table 3.
Comparison of the probability of carrying potentially pathogenic non-synonymous and loss of function (LoF) variants within cancer predisposition genes (CPGs) in cancer-free families (pCFF) and in the ExAC population (pExAC). Pathogenicity was evaluated using the criteria of our in-house developed Familial Cancer Variant Prioritization Pipeline version 2 (FCVPPv2).
| Source of CPGs | CFF No. Variants |
P CFF | ExAC No. Variants |
P ExAC | OR | 95%CI | |
|---|---|---|---|---|---|---|---|
| Wei [18] non-synonymous | 54 | 67 % | 23419 | 63 % | 1.21 | 0.77 | 1.91 |
| Wei [18] LoF | 2 | 6 % | 3675 | 15 % | 0.35 | 0.00 | 0.53 |
| Rahman [17] non-synonymous | 18 | 31 % | 5619 | 22 % | 1.58 | 0.87 | 2.83 |
| Rahman [17] LoF | 0 | 0 % | 791 | 4 % | |||
LoF: loss-of-function, stop gain/loss, splice-site, and frameshift indel variants; P: probability; OR: odds ratio; 95%CI: 95% confidence interval.