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Table 4 Genomic features of the mutations

From: Genome instability in blood cells of a BRCA1 + breast cancer family

A. Genome distribution of the mutations

Gene

Position

Repetitive sequence

Structural variation

Fragile site

BPTF

chr17:65850386

-

+

-

-

-

CACNB3

chr12:49220218

-

+

-

-

-

CHCHD1

chr10:75541868

-

+

-

-

-

FOXP1

chr3:71247489

-

+

-

-

-

GSTK1

chr7:142964824

-

+

-

-

-

ITGA1

chr5:52240783

-

+

-

-

-

LACRT

chr12:55028594

-

+

-

-

-

PHKG2

chr16:30767746

-

+

-

-

-

SRA1

chr5:139936828

-

+

-

-

-

CLCN4

chrX:10176455

-

+

-

-

-

LAT

chr16:29000901

-

+

-

-

-

KCTD8

chr4:44177010

-

+

-

-

-

ABLIM2

chr4:8055946

-

+

4A

5149099

8732840

PAMR1

chr11:35456266

-

+

11E

31043424

36443424

TTN

chr2:179400887

-

+

2G

169791754

182991755

UEVLD

chr11:18553971

-

-

11C

16143424

21643424

ZNF24

chr18:32919897

-

-

18A

32746002

37246002

CUL4B

chrX:119680410

-

-

-

-

-

SEMA3C

chr7:80374250

-

-

-

-

-

TBC1D22B

chr6:37280778

-

-

-

-

-

TMPRSS7

chr3:111797705

-

-

-

-

-

ZNF304

chr19:57868409

+

-

-

-

-

ZNF674

chrX:46359537

+

-

-

-

-

B. Transition/ transversion of the mutations

Wild type

Mutation

Wild type

Mutation

   

Common mutations (> = 2)

C

T

T

G

   

C

T

G

T

   

C

T

C

G

   

C

T

     

G

A

     

G

A

     

G

A

     

G

A

     

G

A

     

Individual mutations

C

T

A

T

   

G

A

A

T

   

G

A

A

C

   

G

A

G

T

   

G

A

G

T

   
  

C

A

   

C. Transition/Transversion ratio

Class

Transition

Transversion

Ratio

   

Total mutation

14

9

1.6

   

Common

9

3

3

   

Individual

5

6

0.8

  Â