Association of age at primary breast cancer diagnosis, incidence of secondary cancer diagnosis and histopathology with BRCA1, BRCA2, PALB2, ATM, CHEK2, TP53 and RAD51C LoF variants
| Non-carriers (n=931) | BRCA1 (n=254) | BRCA2 (n=81) |
PALB2
(n=11) |
ATM
(n=18) | CHEK2 (n=25) |
TP53
(n=12) | RAD51C (n=7) | ||
| Mean age at first BrCa Dx | Mean age±SD | 41.49±10.9 | 38.74±9.2 | 40.95±9.1 | 41.36±10.1 | 42.67±8.5 | 42.36±8.9 | 30.3±6.2 | 43.86±7.9 |
| P value | – | 0.00084 | 0.9253 | 0.8932 | 0.3004 | 0.4179 | 0.02391 | 0.3432 | |
| Second BrCa Dx | No | 134 | 60 | 19 | 2 | 5 | 6 | 6 | 3 |
| Frequency, % | 14.39 | 23.62 | 23.46 | 18.18 | 27.78 | 24.00 | 50.00 | 42.86 | |
| P value | – | 0.001499 | 0.03598 | 1 | 0.17 | 0.242 | 0.03498 | 0.05747 | |
| OvCa Dx | No | 26 | 45 | 7 | 0 | 0 | 0 | 1 | 1 |
| Frequency, % | 2.79 | 17.72 | 8.64 | 0.00 | 0.00 | 0.00 | 8.33 | 14.28 | |
| P value | – | 0.0004998 | 0.01349 | 1 | 1 | 0.6402 | 0.2634 | 0.4253 | |
| Other Cancer Dx | No | 28 | 11 | 2 | 0 | 2 | 3 | 2 | 0 |
| Frequency, % | 3.00 | 4.33 | 2.47 | 0.00 | 11.11 | 12.00 | 16.66 | 0.00 | |
| P value | – | 0.3273 | 1 | 1 | 0.11 | 0.04648 | 0.063 | 1 | |
| Non-carriers (n=931) |
BRCA1
(n=254) | BRCA2 (n=81) | PALB2 (n=8) |
ATM
(n=16) | CHEK2 (n=22) |
TP53
(n=10) | RAD51C (n=7) | ||
| TNBC | No | 151 | 169 | 9 | 2 | 1 | 1 | 2 | 3 |
| Frequency, % | 16.22 | 66.54 | 11.11 | 25 | 6.25 | 4.55 | 20.00 | 42.86 | |
| P value | – | 0.0004998 | 0.2509 | 0.6062 | 0.3408 | 0.1719 | 1 | 0.09495 |
All double mutation carriers have been excluded from the analysis; for PALB2, ATM, CHEK2, TP53 and RAD51C, available data from family relatives carrying LoF alleles have been included in the analysis.
Bold numbers indicate statistically significant findings.
Dx, diagnosis;LoF, loss-of-function; TNBC, triple-negative breast cancer.