Skip to main content

Table 2 Genotype frequencies

From: Cyclophosphamide- metabolizing enzyme polymorphisms and survival outcomes after adjuvant chemotherapy for node-positive breast cancer: a retrospective cohort study

SNP

Variants

Genotypes

White

# (%)

(n = 314)

Black

# (%)

(n = 19)

Other

# (%)

(n = 17)

P-value1

CYP2B6

All WT

516 G/G

114 (36)

4 (21)

4 (23)

0.14

(rs2279343,

 

785 A/A

    

rs3211371,

 

1459 C/C

    

rs3745274)

Any Var

Any Var

189 (60)

15 (79)

11 (65)

 
 

Missing

 

11 (4)

0 (0)

2 (12)

 

CYP2C9

All Wild-

430 C/C

176 (56)

17 (89)

9 (53)

0.06

(rs1799853,

type

1075 A/A

    

rs1057910)

Any Var

Any Var

107 (34)

2 (11)

7 (41)

 
 

Missing

 

31 (10)

0 (0)

1 (6)

 

CYP2D6*4

*1/*1

A/A

19 (6)

0 (0)

0 (0)

0.81

(rs3892097)

*1/*4

G/A

86 (27)

4 (21)

4 (27)

 
 

*4/*4

G/G

198 (63)

15 (79)

11 (63)

 
 

Missing

 

11 (4)

0 (0)

  

CYP3A4*1B

*1A/*1A

A/A

281 (89)

5 (26)

13 (76)

<0.001

(rs2740574)

*1A/*1B

G/A

20 (6)

7 (37)

2 (12)

 
 

*1B/*1B

G/G

3 (1)

7 (37)

0 (0)

 
 

Missing

 

10 (3)

0 (0)

2 (12)

 

CYP3A5*3

*1/*1

A/A

4 (1)

9 (47)

0 (0)

<0.001

(rs776746)

*1/*3

G/A

39 (12)

8 (42)

5 (29)

 
 

*3/*3

G/G

260 (83)

1 (5)

11 (65)

 
 

Missing

 

11 (4)

1 (5)

1 (6)

 

CYP3A5*6

*1/*1

G/G

307 (98)

15 (79)

16 (94)

<0.001

(rs10264272)

*1/*6

A/G

1 (<1)

4 (21)

0 (0)

 
 

*6/*6

A/A

0 (0)

0 (0)

0 (0)

 
 

Missing

 

6 (2)

0 (0)

1 (6)

 

GSTM1

Non-null

 

135 (43)

11 (58)

9 (53)

0.09

 

Null

 

171 (54)

7 (37)

6 (35)

 
 

Missing

 

8 (3)

1 (5)

2 (12)

 

GSTT1

Non-null

 

254 (81)

10 (53)

13 (76)

0.02

 

Null

 

51 (16)

8 (42)

2 (12)

 

GSTT1

Missing

 

9 (3)

1 (5)

2 (12)

 

GSTP1

All WT

Ex 5-24A/A

146 (47)

6 (32)

7 (41)

0.11

(rs1695, rs1138272)

 

Ex 6+5 C/C

    
 

Any Var

Any Variant

160 (51)

13 (68)

8 (47)

 
 

Missing

 

8 (3)

0 (0)

2 (1)

 

Combined CYP-GST genotype

Favorable

 

0 (0)

0 (0)

0 (0)

0.06

groups

Intermediate

 

186 (60)

15 (79)

6 (35)

 
 

Unfavorable

 

102 (32)

3 (16)

8 (47)

 
 

Missing

 

26 (8)

1 (5)

3 (18)

 
  1. 1 Exact Pearson's or Chi-square test
  2. SNP: single nucleotide polymorphism