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Table 5 NuMA sequence variants and haplotypes in 92 familial breast cancer cases.

From: Comprehensive analysis of NuMAvariation in breast cancer

Variant

Obs.

Freq.

Hapl.

1

2

3

4

5

6

7

8

9

10

11

12

13

14

15

16

17

18

19

20

21

22

23

148

0.804

1

G

CA

T

G

A

T

C

0

G

C

C

G

G

C

C

G

C

G

C

G

A

C

T

1

0.005

2

G

CA

T

G

A

T

C

0

G

C

C

G

G

C

C

G

C

G

C

G

A

C

C

1

0.005

3

G

CA

T

G

A

T

C

0

G

C

C

G

G

C

C

G

C

G

C

A

A

C

T

3

0.016

4

G

CA

T

G

A

T

C

0

G

C

C

G

G

C

C

G

C

A

C

G

A

C

T

1

0.005

5

G

CA

T

G

A

T

C

0

G

C

C

G

G

C

C

A

C

G

C

G

A

C

T

1

0.005

6

G

CA

T

G

A

T

C

0

G

C

C

G

G

C

G

G

C

G

C

G

A

C

T

2

0.011

7

G

CA

T

G

A

T

C

0

G

C

C

G

G

T

C

G

C

G

C

G

A

C

T

1

0.005

8

G

CA

T

G

A

T

C

0

G

C

C

G

A

C

C

G

T

G

C

G

A

C

T

3

0.016

9

G

CA

T

G

A

T

C

0

G

C

C

A

G

C

C

G

C

G

C

G

A

C

T

1

0.005

10

G

CA

T

G

A

T

T

0

G

C

C

G

G

C

C

G

C

G

C

G

A

C

T

3

0.016

11

G

CA

A

G

A

T

C

0

G

C

C

G

G

C

C

G

C

G

C

G

A

C

T

1

0.005

12

G

delCA

T

A

G

A

C

insA

G

C

T

G

G

C

C

G

C

G

C

G

C

G

T

7

0.038

13

G

delCA

T

A

G

A

C

insA

G

G

C

G

G

C

C

G

C

G

T

G

A

C

T

7

0.038

14

G

delCA

T

A

G

A

C

insA

T

C

C

G

G

C

C

G

C

G

C

G

C

G

T

2

0.011

15

C

delCA

T

A

G

A

C

insA

G

G

C

G

G

C

C

G

C

G

T

G

A

C

T

2

0.011

16

C

delCA

T

A

G

A

C

insA

T

C

C

G

G

C

C

G

C

G

C

G

C

G

T

  1. Variants
  2. 1 IVS2+34 G > C, 2 IVS4+46 delCA, 3 IVS5+23 T > A, 4 IVS5-18 G > A, 5 IVS6-53 A- > G, 6 IVS8-52 T- > A, 7 ex10 824 C- > T, Arg218Trp*, 8 IVS12-37 insA, 9 IVS14+32 G > T, 10 ex15 2553 C > G, Ala794Gly*, 11 ex15 2656 C > T, Gly828Gly, 12 ex15 3087 G > A, Arg972Gln*, 13 ex15 4184 G > A, Glu1338Lys*, 14 ex15 4583 C > T, Arg1471Trp*, 15 IVS18+15 C > G, 16 ex17 4957 G > A, Lys1595Lys, 17 ex 18 5165 C > T, Arg1665Cys*, 18 ex 20 5507 G > A, Asp1779Asn, 19 ex 21 5791 C > T, Ala1873Ala, 20 ex 25 6255 G > A, Arg2027Gln, 21 3' UTR 6517 A > C, 22 3' UTR 6519 C > G, 23 3' UTR 6580 T > C
  3. *variant that was further screened in familial breast cancer cases
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BMC Cancer

ISSN: 1471-2407

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