Table 2

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
CHEK2 (n=25) TP53
RAD51C (n=7)
Mean age at first BrCa DxMean age±SD41.49±10.938.74±9.240.95±9.141.36±10.142.67±8.542.36±8.930.3±6.243.86±7.9
P value 0.00084 0.92530.89320.30040.4179 0.02391 0.3432
Second BrCa DxNo134601925663
Frequency, %14.3923.6223.4618.1827.7824.0050.0042.86
P value 0.001499 0.03598 10.170.242 0.03498 0.05747
OvCa DxNo2645700011
Frequency, %2.7917.728.640.
P value 0.0004998 0.01349 110.64020.26340.4253
Other Cancer DxNo2811202320
Frequency, %3.004.332.470.0011.1112.0016.660.00
P value0.3273110.11 0.04648 0.0631
Non-carriers (n=931) BRCA1
BRCA2 (n=81) PALB2 (n=8) ATM
CHEK2 (n=22) TP53
RAD51C (n=7)
Frequency, %16.2266.5411.11256.254.5520.0042.86
P value 0.0004998 0.25090.60620.34080.171910.09495
  • 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.