Table 1

Association of pathogenic variants with early onset of breast cancer

PROCAS controls1567290636265
Breast cancer ≤30 study overall379/184‡753522242111
P value<0.0001<0.0001<0.00010.65760.00320.18440.28470.54090.4868
Population based cohort125/4623115000100
P value<0.0001<0.0001<0.00010.0832
Referral to MCGM254/138522417242011
P value<0.0001<0.0001<0.00010.13200.00120.13200.44670.3978
POSH study287321753
P value<0.0001<0.0001<0.00010.1508
  • *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.