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 | Â | Â | Â |
Common mutations (> = 2) | ||||||
C | T | T | G | Â | Â | Â |
C | T | G | T | Â | Â | Â |
C | T | C | G | Â | Â | Â |
C | T | Â | Â | Â | Â | Â |
G | A | Â | Â | Â | Â | Â |
G | A | Â | Â | Â | Â | Â |
G | A | Â | Â | Â | Â | Â |
G | A | Â | Â | Â | Â | Â |
G | A | Â | Â | Â | Â | Â |
Individual mutations | ||||||
C | T | A | T | Â | Â | Â |
G | A | A | T | Â | Â | Â |
G | A | A | C | Â | Â | Â |
G | A | G | T | Â | Â | Â |
G | A | G | T | Â | Â | Â |
 |  | C | A |  |  |  |
C. Transition/Transversion ratio | ||||||
Class | Transition | Transversion | Ratio | Â | Â | Â |
Total mutation | 14 | 9 | 1.6 | Â | Â | Â |
Common | 9 | 3 | 3 | Â | Â | Â |
Individual | 5 | 6 | 0.8 | Â | Â | Â |