Table 3.
Incident BC patient group (ORIGO) genotypes in relation to ductal, lobular or other histology types
| Variant | Genotype (No.) | Ductal | Lobular | Other | ||||||
|---|---|---|---|---|---|---|---|---|---|---|
| No. (%) | OR (95% CI) | p | No. (%) | OR (95% CI) | p | No. (%) | OR (95% CI) | p | ||
| c.536A>G (p.Tyr179Cys) | AA (1,310) | 1,136 (86.7) | 0.035 | 179 (13.8) | 0.152 | 67 (5.2) | 1.000 | |||
| AG (10) | 6 (60.0) | 0.23 (0.06–0.82) | 3 (30.0) | 2.68 (0.69–10.45) | 1 (10.0) | 2.04 (0.25–16.32) | ||||
| c.925C>T (p.Arg309Cys) | CC (1,310) | 1,135 (86.6) | 0.036 | 179 (13.8) | 0.039 | 67 (5.2) | 0.276 | |||
| CT (6) | 3 (50.0) | 0.15 (0.03–0.77) | 3 (50.0) | 6.25 (1.25–31.19) | 1 (16.7) | 3.67 (0.42–31.85) | ||||
| c.1187G>A (p.Gly396Asp) | GG (1,307) | 1,130 (86.5) | 1.000 | 181 (14.0) | 1.000 | 67 (5.2) | 1.000 | |||
| GA (14) | 12 (85.7) | 0.94 (0.21–4.23) | 2 (14.3) | 1.03 (0.23–4.62) | 1 (7.1) | 1.41 (0.18–10.92) | ||||
| c.1214C>T (p.Pro405Leu) | CC (1,320) | 1,141 (86.4) | 1.000 | 183 (14.0) | 1.000 | 68 (5.2) | 1.000 | |||
| CT (2) | 2 (100) | – | 0 | – | 0 | – | ||||
| Four variants with MAF <1% combined | Major (1,275) | 1,107 (86.8) | 0.021 | 173 (13.7) | 0.074 | 65 (5.2) | 0.408 | |||
| Minor (32) | 23 (71.9) | 0.39 (0.18–0.85) | 8 (25.0) | 2.09 (0.93–4.75) | 3 (9.4) | 1.90 (0.57–6.41) | ||||
| c.1544C>T (p.Ser515Phe) | CC (1,280) | 1,111 (86.8) | 0.038 | 171 (13.5) | 0.005 | 64 (5.1) | 0.261 | |||
| CT (40) | 30 (75.0) | 0.46 (0.22–0.95) | 12 (30.8) | 2.85 (1.42–5.74) | 4 (10.3) | 2.15 (0.74–6.23) | ||||
| c.37-2487T>G | GG (614) | 530 (86.3) | 0.952 | 82 (13.5) | 0.403 | 36 (5.9) | 0.710 | |||
| GT (580) | 505 (87.1) | 1.08 (0.76–1.49) | 74 (12.8) | 0.94 (0.67–1.32) | 28 (4.8) | 0.81 (0.49–1.34) | ||||
| TT (155) | 132 (85.2) | 0.91 (0.55–1.50) | 27 (17.6) | 1.37 (0.86–2.21) | 9 (5.9) | 0.99 (0.47–2.10) | ||||
| c.64G>A (p.Val22Met) | GG (1,245) | 1,072 (86.1) | 0.552 | 176 (14.3) | 0.635 | 68 (5.5) | 0.361 | |||
| GA (131) | 116 (88.5) | 1.25 (0.71–2.19) | 16 (12.3) | 0.84 (0.49–1.46) | 5 (3.8) | 0.69 (0.27–1.73) | ||||
| AA (7) | 6 (85.7) | 0.97 (0.12–8.09) | 1 (14.3) | 1.00 (0.12–8.36) | 0 | – | ||||
| c.504+35G>A | GG (1,133) | 976 (86.1) | 0.780 | 160 (14.3) | 0.779 | 61 (5.4) | 0.241 | |||
| GA (228) | 205 (89.9) | 1.43 (0.90–2.28) | 26 (11.5) | 0.78 (0.50–1.21) | 9 (4.0) | 0.72 (0.35–1.47) | ||||
| AA (15) | 10 (66.7) | 0.32 (0.11–0.95) | 6 (40.0) | 4.00 (1.41–11.40) | 0 | – | ||||
| c.1014G>C (p.Gln338His) | GG (819) | 706 (86.2) | 0.747 | 111 (13.7) | 0.242 | 44 (5.4) | 1.000 | |||
| GC (466) | 410 (88.0) | 1.17 (0.83–1.65) | 63 (13.6) | 1.00 (0.72–1.39) | 20 (4.3) | 0.79 (0.46–1.36) | ||||
| CC (74) | 59 (79.7) | 0.63 (0.35–1.15) | 16 (22.2) | 1.80 (1.00–3.26) | 6 (8.2) | 1.56 (0.64–3.80) | ||||
| Haplotypes of 5 variants | ||||||||||
| 1 (All major alleles) | GGGGC (1,622) | 1,402 (86.4) | 0.974 | 217 (13.4) | 0.283 | 89 (5.5) | 0.356 | |||
| 2 (37-2487T, 1014C) | TGGCC (562) | 484 (86.1) | 0.880 | 84 (14.9) | 0.446 | 29 (5.2) | 0.990 | |||
| 3 (37-2487T, 504 + 35A) | TGAGC (253) | 218 (86.2) | 0.898 | 37 (14.6) | 0.726 | 11 (4.3) | 0.499 | |||
| 4 (64A) | GAGGC (138) | 124 (89.9) | 0.241 | 16 (11.6) | 0.438 | 3 (2.2) | 0.100 | |||
| 5 (37-2487T, 1014C, 1544T) | TGGCT (39) | 29 (74.4) | 0.029 | 12 (30.8) | 0.002 | 4 (10.3) | 0.143 | |||
p values below 0.05 and odds ratios with CIs not including the value 1 are italicized. Numbers and percentages of patients with a histological type are given per genotype. In case of multiple tumors per patient with different histology, or multiple histological types within one tumor, each type was counted. To tests for associations between genotypes and tumor histology types, for each histology type (ductal, lobular, or other) a comparison was made between having this specific type or not. Totals may vary due to missing data and multiple possible histological types per patient