Table 2.

Comparison of detected and missed female BRCA1/2 founder mutation carriers, at the 0.56%, 0.78%, 5%, and 10% carrier-probability thresholds

Carrier-probability threshold0.56%0.78%5%10%
Mutation carrier classificationDetectedMissedDetectedMissedDetectedMissedDetectedMissed
Degree of Ashkenazi ancestry½ AJ51423306
¾ AJ61613425
Full AJ565501128331942
P value (Mann–Whitney)0.40.60.90.2
Number of affected first- and second-degree female relatives07620131023528
127127116121018
21201207557
310101010
P value (Mann–Whitney)0.020.00010.020.02
Number of unaffected first-degree female relatives070705234
1200173119713
22211941013716
≥3186177816420
P value (Mann–Whitney)0.0030.050.030.08
Volunteer ageMin2745273729272927
1st Q.40.551.539524441.24442
Median48544653.548484848
3rd Q.53.571.553.067.354.8545454
Max8074807480808080
Mean48.159.947.656.349.349.148.949.3
SD11.212.011.510.510.712.710.912.2
P value (Mann–Whitney)0.020.0060.80.9
  • NOTE: Comparisons made by: Degree of Ashkenazi-Jewish (AJ) ancestry (½, ¾, or full Ashkenazi-Jewish ancestry); Number of cancer-affected first- and second-degree female relatives; Number of cancer-unaffected first-degree female relatives; Volunteer age [minimum, 1st quartile (Q), median, 3rd quartile (Q), maximum, mean, and SD of age given]. P values calculated using the Mann–Whitney nonparametric test.