Table 3.
Mutation distribution in the 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 | - | + | + | - |