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Table 2 Correlations between the genotype frequencies of the polymorphisms and the family history of cancer (overall)

From: Association of polymorphisms with a family history of cancer and the presence of germline mutations in the BRCA1/BRCA2 genes

  Number of cancer cases Presence of bilateral breast cancer Presence of ovarian cancer Number of generations with cancer Number of breast cancer cases
Polymorphism ≤3 >3 Yes No Yes No 1 2 3 4 ≤3 >3
rs3803662 – TT 13 21 4 30 4 30 8 17 8 1 25 9
N (%) (20.0) (15.3) (20.0) (16.5) (14.3) (17.2) (22.2) (17.9) (12.5) (16.7) (17.6) (15.3)
rs3803662 - TC 25 73 9 89 15 83 15 44 35 4 63 34
N (%) (38.5) (53.3) (45.0) (48.9) (53.6) (47.7) (41.7) (46.3) (54.7) (66.7) (44.4) (57.6)
rs3803662 - CC 27 43 7 63 9 61 13 34 21 1 54 16
N (%) (41.5) (31.4) (35.0) (34.6) (32.1) (35.1) (36.1) (35.8) (32.8) (16.7) (38.0) (27.1)
Total N (%) 65 (100.0) 137 (100.0) 20 (100.0) 182 (100) 28 (100) 245 (100.0) 36 (100) 95 (100) 64 (100) 6 (100) 142 (100) 59 (100)
P value a (p = 0.602) (p = 0.849) (p = 0.998) (p = 0.890) (p = 0.429)
rs2981582 - TT 17 32 4 45 2 47 6 28 12 3 33 15
N (%) (25.8) (23.2) (20.0) (24.5) (7.5) (26.6) (10.7) (29,5) (18,2) (50,0) (23,1) (25,0)
rs2981582 - TC 28 76 13 91 18 86 16 44 42 1 70 34
N (%) (42.4) (55.1) (65.0) (49.5) (66.6) (48.6) (44.4) (46.3) (63.6) (16.7) (59.0) (56.7)
rs2981582 - CC 21 30 3 48 7 44 14 23 12 2 40 11
N (%) (31.8) (21.7) (15.0) (26.1) (25.9) (24.9) (38.9) (24,2) (18.2) (33.3) (28.0) (18.3)
Total N (%) 120 156 20 184 27 177 36 95 66 6 143 60
  (100.0) (100) (100.0) (100) (100) (100.0) (100) (100) (100) (100) (100) (100)
P value a (p = 0.475) (p = 0.688) (p = 0.163) (p = 0.172) (p = 0.283)
rs13281615 - AA 21 31 3 49 11 41 14 22 16 0 37 15
N (%) (31.8) (22.3) (15.0) (26.5) (39.3) (23.2) (38.9) (23.2) (23.9) (0.0) (25.7) (25.0)
rs13281615 - AG 37 61 5 93 12 86 16 51 27 3 70 27
N (%) (56.1) (43.9) (25.0) (50.3) (42.8) (48.6) (44.4) (53.7) (40.3) (50.0) (48.6) (45.0)
rs13281615 -GG 8 47 12 43 5 50 6 22 24 3 37 18
N (%) (12.1) (33.8) (60.0) (23.2) (17.9) (28.2) (16.7) (23,2) (35.8) (50.0) (25.7) (30.0)
Total N (%) 66 139 20 185 28 177 36 95 67 6 144 60
  (100) (100) (100.0) (100) (100) (100) (100) (100) (100) (100) (100) (100)
P value a 0.004 0.005 0.072 0.007 0.654
N (%) (16.7) (11.5) (25.0) (11.9) (7.1) (14.1) (11.1) (14.7) (13.4) (0.0) (14.6) (10.0)
rs889312 - CA 28 68 12 84 12 84 18 36 36 5 66 30
N (%) (42.4) (48.9) (60.0) (45.4) (42.9) (47.5) (50.0) (37.9) (53.7) (83.3) (45.8) (50.0)
rs889312 - AA 27 55 3 79 14 68 14 45 22 1 57 24
N (%) (40.9) (39.6) (15.0) (42.7) (50.0) (38.4) (38.9) (47.4) (32.8) (16.7) (39.6) (40.0)
Total N (%) 66 (100) 139 20 185 28 177 36 95 67 6 144 60
   (100) (100) (100) (100) (100) (100) (100) (100) (100) (100) (100)
P value a 0.707 0.011 0.179 0.373 0.632
rs3817198 - TT 31 67 6 92 18 80 21 41 33 2 70 28
N (%) (47.0) (48.6) (30.0) (50.0) (66.7) (45.2) (58.3) (43.2) (50.0) (33.3) (49.0) (46.7)
rs3817198 - TC 25 64 10 79 6 83 13 48 24 4 61 28
N (%) (37.9) (46.4) (50.0) (42.9) (22.2) (46.9) (36.1) (50.5) (36.4) (66.7) (42.7) (46.7)
rs3817198 - CC 10 7 4 13 3 14 2 6 9 0 12 4
N (%) (15.2) (5.1) (20.0) (7.1) (11.1) (7.9) (5.6) (6.3) (13.6) (0.0) (8.4) (6.6)
Total N (%) 66 138 20 184 27 177 36 95 66 6 143 60
  (100) (100) (100) (100) (100) (100) (100) (100) (100) (100) (100) (100)
P value a 0.223 0.029 0.166 0.275 0.954
  1. Values in bold indicate statistical significance (p < 0.05)
  2. aChi-square