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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.