Table 1

BRCA2 N372H genotype distribution in breast cancer cases and controls

TotalFamily historyaNo family history<40 years≥40 years
CasesCases - no mutationsbControlsCasesCases - no mutationsbControlsCasesCases - no mutationsbControlsCasesControlsCasesControls
n(%)n(%)n(%)n(%)n(%)n(%)n(%)n(%)n(%)n(%)n(%)n(%)n(%)
Genotype
 NN720(51.5)707(51.9)417(53.8)228(49.7)221(50.0)92(49.7)492(52.5)486(52.7)325(55.1)388(52.8)219(51.0)332(50.2)198(57.2)
 NH548(39.2)532(39.0)308(39.7)192(41.8)184(41.6)85(45.9)356(38.0)348(37.7)223(37.8)282(38.4)181(42.2)266(40.4)127(36.7)
 HH129(9.2)125(9.2)50(6.5)39(8.5)37(8.4)8(4.3)90(9.6)88(9.5)42(7.1)65(8.9)29(6.8)64(9.7)21(6.1)
 Total13971364775459442185938922590735429662346
H allele frequency0.2880.2870.2630.2940.2920.2730.2860.2840.2600.2800.2790.2980.244
95% CI0.272–0.3050.270–0.3040.241–0.2850.265–0.3240.261–0.3220.228–0.3180.265–0.3060.264–0.3050.235–0.2850.257–0.3030.249–0.3090.273–0.3220.212–0.276
  • a Family history defined as any reported first- or second-degree relative with breast cancer.

  • b Excluding carriers of BRCA1 or BRCA2 deleterious mutations. There was 1 individual with a BRCA1 and BRCA2 mutation, and 19 BRCA1 and 13 BRCA2 carriers. There was no difference in genotype distribution between BRCA1 and BRCA2 carriers (P = 0.6), and the HH genotype was found in only 1 BRCA1 and 2 BRCA2 carriers. There was also no difference in genotype distribution between all BRCA1/2 carriers and noncarriers (P = 0.4).