Parameter estimates, goodness-of-fit measures and likelihood ratio tests (LRTs) of the seven cohort-specific models for breast and ovarian cancer
| Model | BRCA1 frequency (95% CI) | BRCA2 frequency (95% CI) | Major gene frequency (95% CI) | Major gene log relative risk (95% CI) | Polygenic SD (95% CI) | Log-likelihood | AIC | LRT p value |
|---|---|---|---|---|---|---|---|---|
| Base | 0.00081 (0.00061 to 0.0011) | 0.0026 (0.0020 to 0.0033) | – | – | – | −2892.237 | 5788.474 | 5.11E-06 |
| Major dominant | 0.00079 (0.00060 to 0.0011) | 0.0026 (0.0020 to 0.0032) | 0.00025 (0.000041 to 0.0015) | 4.8 (3.3 to 6.2) | – | −2880.343 | 5768.686 | 0.047 |
| Major recessive | 0.00080 (0.00060 to 0.0011) | 0.0026 (0.0020 to 0.0032) | 0.085 (0.017 to 0.33) | 4.0 (2.0 to 6.0) | – | −2882.122 | 5772.244 | 0.0079 |
| Major general | 0.00079 (0.00060 to 0.0011) | 0.0026 (0.0020 to 0.0032) | 0.00025 (0.00020 to 0.0033) | 4.8 (3.3 to 6.3) | – | −2880.335 | 5770.67 | 0.013 |
| 7.4 (−14.1 to 28.8) | ||||||||
| Polygenic | 0.00079 (0.00060 to 0.0011) | 0.0026 (0.0020 to 0.0033) | – | – | 1.43 (1.10 to 1.86) | −2879.186 | 5764.372 | 0.28 |
| Mixed dominant | 0.00079 (0.00059 to 0.0011) | 0.0026 (0.0020 to 0.0032) | 0.00023 (0.000023 to 0.0022) | 4.7 (2.8 to 6.6) | 1.09 (0.64 to 1.86) | −2877.289 | 5764.576 | 0.91 |
| Mixed recessive | 0.00079 (0.00060 to 0.0011) | 0.0026 (0.0020 to 0.0032) | 0.076 (0.020 to 0.25) | 3.7 (1.5 to 5.9) | 1.19 (0.74 to 1.91) | −2878.374 | 5768.806 | 0.14 |
| Mixed general | 0.00079 (0.00059 to 0.0011) | 0.0026 (0.0020 to 0.0032) | 0.00023 (0.000023 to 0.0023) | 4.7 (2.8 to 6.6) | 1.09 (0.64 to 1.86) | −2877.283 | 5766.566 | |
| 9.4 (−20.5 to 39.3) |
AIC, Akaike's information criterion; LRT p value, probability of the difference between log-likelihoods comparing each model against the mixed general model.