Background
Methods
Study populations
AML/MDSa
| Malignant melanoma | Bladder cancer | Breast cancer | ||||
---|---|---|---|---|---|---|---|
Cases | Cases | Controls | Cases | Controls | Cases | Controls | |
N | 152 | 170 | 119 | 61 | 156 | 200 | 131 |
Median age (range) | 72 (22–95) | 66 (24–80) | 68 (22–96) | 69 (35–85) | 69 (21–90) | 59 (34–86) | 63 (23–85) |
Women/Men (%) | 73/79 (48/52) | 87/83 (51/49) | 53/66 (44.5/55.5) | 9/52 (15/85) | 34/122 (22/78) | 200/0 (100/0) | 131/0 (100/0) |
Polymorphism selection and initial screening
Genotyping of polymorphisms in the breast cancer/control material
Statistical analysis
Cancer type | Polymorphism | Risk allele % Cases/controls | Genotype | Cases | Controls | OR | 95% CI |
---|---|---|---|---|---|---|---|
AML/MDS |
TOP3A
rs1563634
b
| 75/66 | AA | 11 | 14 | 1.0c, d
| - |
AG | 54 | 52 | 1.3 | 0.53–3.1 | |||
GG | 84 | 52 | 2.0 | 0.82–4.7 | |||
Malignant melanoma | 75/66 | AA | 12 | 14 | 1.0 | - | |
AG | 60 | 52 | 1.4 | 0.58–3.2 | |||
GG | 96 | 52 | 2.2 | 0.93–5.1 | |||
Bladder | 68/67 | AA | 3 | 19 | 1.0 | - | |
cancer | AG | 32 | 54 |
3.9
|
1.1–14
| ||
GG | 25 | 66 | 2.5 | 0.67–9.1 | |||
Breast cancer | 68/68 | AA | 19 | 16 | 1.0 | - | |
AG | 88 | 48 | 1.5 | 0.72–3.2 | |||
GG | 92 | 66 | 1.2 | 0.57–2.5 | |||
AML/MDS |
TOP3A
rs12945597
| 37/25 | GG | 61 | 64 | 1.0 | - |
GA | 63 | 49 | 1.3 | 0.76–2.2 | |||
AA | 22 | 5 |
4.9
|
1.7–14
| |||
Malignant melanoma | 32/25 | GG | 78 | 64 | 1.0 | - | |
GA | 72 | 49 | 1.2 | 0.74–2.0 | |||
AA | 18 | 5 |
3.0
|
1.0–8.4
| |||
Bladder | 36/30 | GG | 26 | 73 | 1.0 | - | |
cancer | GA | 25 | 49 | 1.4 | 0.75–2.8 | ||
AA | 9 | 17 | 1.5 | 0.58–3.7 | |||
Breast cancer | 31/26 | GG | 96 | 76 | 1.0 | - | |
GA | 84 | 40 |
1.7
|
1.0–2.7
| |||
AA | 20 | 15 | 1.1 | 0.52–2.3 | |||
AML/MDS |
BLM
rs401549
| 31/30 | AA | 65 | 57 | 1.0 | - |
AG | 75 | 51 | 1.3 | 0.77–2.1 | |||
GG | 9 | 10 | 0.77 | 0.29–2.0 | |||
Malignant melanoma | 36/30 | AA | 62 | 57 | 1.0 | - | |
AG | 90 | 51 | 1.6 | 0.98–2.7 | |||
GG | 16 | 10 | 1.5 | 0.61–3.5 | |||
Bladder | 37/30 | AA | 26 | 64 | 1.0 | - | |
cancer | AG | 24 | 67 | 0.90 | 0.47–1.7 | ||
GG | 10 | 8 |
3.1
|
1.1–8.7
| |||
Breast cancer | 34/33 | AA | 87 | 58 | 1.0 | - | |
AG | 94 | 61 | 1.0 | 0.65–1.6 | |||
GG | 19 | 12 | 1.1 | 0.48–2.4 | |||
AML/MDS |
BLM
rs2532105
| 16/12 | CC | 103 | 90 | 1.0 | - |
CT+TTe
| 46 | 27 | 1.4 | 0.83–2.5 | |||
Malignant melanoma | 18/12 | CC | 109 | 90 | 1.0 | - | |
CT+TT | 59 | 27 |
1.8
|
1.1–3.2
| |||
Bladder cancer | 20/10 | CC | 40 | 111 | 1.0 | - | |
CT+TT | 20 | 28 |
2.1
|
1.0–4.2
| |||
Breast cancer | 17/13 | CC | 133 | 104 | 1.0 | - | |
CT+TT | 67 | 27 |
2.0
|
1.2–3.3
|
IIIA. rs12945597+rs2532105 | |||
---|---|---|---|
Genotype | OR | 95% CI | |
AML/MDS | GG+CC | 1.0 | - |
GG+T- | 1.4 | 0.61–3.0 | |
A-+CC | 1.6 | 0.89–2.8 | |
A-+T- |
2.4
|
1.1–5.4
| |
Malignant melanoma | GG+CC | 1.0 | - |
A-+CC | 1.7 | 0.98–3.0 | |
GG+T- |
2.5
|
1.2–5.2
| |
A-+T- |
2.4
|
1.1–5.4
| |
Bladder cancer | GG+CC | 1.0 | - |
A-+CC | 1.4 | 0.68–2.9 | |
GG+T- | 2.1 | 0.74–6.1 | |
A-+T- |
3.0
|
1.1–7.7
| |
Breast cancer | GG+CC | 1.0 | - |
A-+CC | 1.5 | 0.92–2.6 | |
GG+T- |
2.0
|
1.0–4.1
| |
A-+T- |
3.0
|
1.4–6.4
| |
IIIB. rs1563634b+rs2532105 | |||
Genotype | OR | 95% CI | |
AML/MDS | AA+CC | 1.0 | - |
AA+T- | 0.48 | 0.087–2.7 | |
G-+CC | 1.1 | 0.39–3.1 | |
G-+T- | 1.9 | 0.62–5.8 | |
Malignant melanoma | AA+CC | 1.0 | - |
AA+T- | 0.48 | 0.089–2.6 | |
G-+CC | 1.1 | 0.41–3.1 | |
G-+T- | 2.5 | 0.84–7.4 | |
Bladder cancer | AA+CC | 1.0 | - |
AA+T- | 1.7 | 0.12–23 | |
G-+CC | 3.0 | 0.64–14 | |
G-+T- |
6.5
|
1.3–33
| |
Breast cancer | AA+CC | 1.0 | - |
G-+CC |
2.8
|
1.1–7.2
| |
AA+T- |
12
|
2.1–70
| |
G-+T- |
4.6
|
1.7–13
|
SNP | Genotype | OR | 95% CI | FPRP 0.1b
| FPRP 0.01 |
---|---|---|---|---|---|
rs1563634c
| AA | 1.0 | - | - | |
(TOP3A) |
AG
|
1.7
|
1.1–2.6
|
0.48
|
0.92
|
GG
|
1.8
|
1.1–2.8
|
0.29
|
0.84
| |
rs12945597 | GG | 1.0 | - | - | - |
(TOP3A) |
AG
|
1.5
|
1.1–1.9
|
0.014
|
0.13
|
AA
|
1.6
|
1.0–2.5
|
0.36
|
0.89
| |
rs401549 | AA | 1.0 | - | - | - |
(BLM) | AG | 1.2 | 0.89–1.5 | - | - |
GG | 1.3 | 0.82–2.2 | - | - | |
rs2532105 | CC | 1.0 | - | - | - |
(BLM) |
CT+TT
|
1.8
|
1.5–2.5
|
0.029
|
0.27
|
Polymorphisms | Genotype | OR | 95% CI |
---|---|---|---|
rs12945597+rs2532105 | GG+CC | 1.0 | - |
A-+CC |
1.6
|
1.2–2.1
| |
GG+T- |
2.0
|
1.3–3.1
| |
A-+T- |
2.7
|
1.8–4.3
| |
rs1563634+rs2532105 | AA+CC | 1.0 | - |
G-+CC |
1.9
|
1.1–3.2
| |
AA+T- | 2.0 | 0.85–4. | |
G-+T- |
3.5
|
2.0–6.3
|