From: Genome instability in blood cells of a BRCA1 + breast cancer family
Gene | Position | Base change | AA change | Sister #1 | Sister #2 | Sister #4 | Sister #3 |
---|---|---|---|---|---|---|---|
 |  |  |  | Cancer | Cancer | Cancer | Unaffected |
A. Mutation distribution in the three breast cancer-affected sisters | |||||||
PHKG2 | chr16:30767746 | c.C706T | p.R236W | + | + | + | - |
GSTK1 | chr7:142964824 | c.G703A | p.G235R | + | + | - | - |
ITGA1 | chr5:52240783 | c.C3296G | p.S1099C | + | + | - | - |
PAMR1 | chr11:35456266 | c.G1420A | p.G474R | + | + | - | - |
TMPRSS7 | chr3:111797705 | c.G1963A | p.G655S | + | + | - | - |
UEVLD | chr11:18553971 | c.G1312T | p.V438L | + | + | - | - |
LACRT | chr12:55028594 | c.C32T | p.A11V | + | - | + | - |
SRA1 | chr5:139936828 | c.C91T | p.P31S | + | - | + | - |
ZNF24 | chr18:32919897 | c.T464G | p.M155R | + | - | + | - |
ABLIM2 | chr4:8055946 | c.G791A | p.R264Q | - | + | + | - |
FOXP1 | chr3:71247489 | c.C44T | p.A15V | - | + | + | - |
TTN | chr2:179400887 | c.G73392A | p.W24464X | - | + | + | - |
CACNB3 | chr12:49220218 | c.G688A | p.A230T | - | + | - | - |
CHCHD1 | chr10:75541868 | c.G35T | p.R12L | - | + | - | - |
B. Mutation distribution between generations | |||||||
Pair 1 | Father #9 | Mother #2 | Daughter #5 | Daughter #6 | |||
RAB3C | chr5:58147140 | c.G646A | p.E216K | - | + | + | + |
SRA1 | chr5:139936828 | c.C91T | p.P31S | - | + | + | + |
TMPRSS7 | chr3:111797705 | c.G1963A | p.G655S | - | + | + | + |
ZNF24 | chr18:32919897 | c.T464G | p.M155R | - | + | + | + |
LACRT | chr12:55028594 | c.C32T | p.A11V | - | + | + | - |
PAMR1 | chr11:35456266 | c.G1420A | p.G474R | - | + | + | - |
GSTK1 | chr7:142964824 | c.G703A | p.G235R | - | + | - | + |
PHKG2 | chr16:30767746 | c.C706T | p.R236W | - | + | - | + |
UEVLD | chr11:18553971 | c.G1312T | p.V438L | - | + | - | + |
ITGA1 | chr5:52240783 | c.C3296G | p.S1099C | - | + | - | - |
BPTF | chr17:65850386 | c.A944C | p.N315T | - | - | + | - |
TBC1D22B | chr6:37280778 | c.G1067A | p.S356N | - | - | + | - |
SEMA3C | chr7:80374250 | c.G2216A | p.R739Q | - | - | + | - |
CUL4B | chrX:119680410 | c.A838T | p.R280X | - | - | + | - |
CLCN4 | chrX:10176455 | c.G1214A | p.C405Y | - | - | + | - |
LAT | chr16:29000901 | c.G634T | p.A212S | - | - | + | - |
ZNF304 | chr19:57868409 | c.A1172T | p.Y391F | - | - | + | - |
ZNF674 | chrX:46359537 | c.C1487A | p.P496H | - | - | + | - |
KCTD8 | chr4:44177010 | c.C1219T | p.R407C | - | - | + | - |
Pair 2 | Father #10 | Mother #4 | Daughter #7 | Son #8 | |||
SRA1 | chr5:139936828 | c.C91T | p.P31S | - | + | + | + |
PHKG2 | chr16:30767746 | c.C706T | p.R236W | - | + | + | - |
CASQ1 | chr1:160165804 | c.G769A | p.E257K | - | + | + | - |
ABLIM2 | chr4:8055946 | c.G791A | p.R264Q | - | + | + | - |
TTN | chr2:179400887 | c.G73392A | p.W24464X | - | + | + | - |
FOXP1 | chr3:71247489 | c.C44T | p.A15V | - | + | + | - |