Association of pathogenic variants with early onset of breast cancer
| Total | BRCA1 | BRCA2 | TP53* | CHEK2† | PALB2 | ATM | BRIP1 | RAD50 | RECQL | |
| PROCAS controls | 1567 | 2 | 9 | 0 | 6 | 3 | 6 | 2 | 6 | 5 |
| % | 0.13% | 0.57% | 0.00% | 0.38% | 0.19% | 0.38% | 0.13% | 0.38% | 0.32% | |
| Breast cancer ≤30 study overall | 379/184‡ | 75 | 35 | 22 | 2 | 4 | 2 | 1 | 1 | 1 |
| % | 19.79% | 9.23% | 5.80% | 0.53% | 2.17% | 1.09% | 0.54% | 0.54% | 0.54% | |
| P value | <0.0001 | <0.0001 | <0.0001 | 0.6576 | 0.0032 | 0.1844 | 0.2847 | 0.5409 | 0.4868 | |
| Population based cohort | 125/46 | 23 | 11 | 5 | 0 | 0 | 0 | 1 | 0 | 0 |
| % | 18.4% | 8.8% | 4.0% | 2.17% | ||||||
| P value | <0.0001 | <0.0001 | <0.0001 | 0.0832 | ||||||
| Referral to MCGM | 254/138 | 52 | 24 | 17 | 2 | 4 | 2 | 0 | 1 | 1 |
| % | 20.47% | 9.45% | 6.69% | 0.78% | 2.90% | 1.45% | 0.72% | 0.72% | ||
| P value | <0.0001 | <0.0001 | <0.0001 | 0.1320 | 0.0012 | 0.1320 | 0.4467 | 0.3978 | ||
| POSH study | 287 | 32 | 17 | 5 | 3 | |||||
| % | 11.15% | 5.92% | 1.74% | 1.05% | ||||||
| P value | <0.0001 | <0.0001 | <0.0001 | 0.1508 |
*TP53 p value is based on population frequency of 1/5000.
†CHEK2 p value is calculated for c.1100delC only.
‡Total of women tested for BRCA1/2, TP53 variants and CHEK2 c.1100delC is 379, total number of women tested for an extended panel of genes is 184.
MCGM, Manchester Centre for Genomic Medicine.