Skip to main content

Table 1 Summary of findings of studies of familial cases and controls

From: Are the so-called low penetrance breast cancer genes, ATM, BRIP1, PALB2 and CHEK2, high risk for women with strong family histories?

Gene Familial Controls RF p RR p
ATM [1] 12/443 (2.7%) 2/521 (0.8%) 7.1 (1.6–31) 0.003 2.4 (1.5–3.8) 0.0003
BRIP1 [2] 9/1,212 (0.7%) 2/2,081 (0.1%) 7.7 (1.7–36) 0.002 2.0 (1.2–3.2) 0.01
PALB2 [3] 10/923 (1.1%) 0/1,084 (0.0%) - 0.0004 2.3 (1.4–3.9) 0.0025
PALB2 [4] 3/113 (2.7%) 6/2,501 (0.2%) 11.1 (2.8–44) 0.005 NA  
CHEK2 [5] 55/1,071 (5.1%) 18/1,620 (1.1%) 4.6 (2.7–8) 0.00000 1.7 (1.3–2.2) 0.0001
  1. RF represents the relative frequency of mutations in familial cases versus controls. RR represents the estimated effect of carrying a mutation on the average woman from fitting a multiplicative polygenic model. Confidence intervals for RF and RR are shown in parentheses.