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Table 3 Mutation distribution in the family

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

-

+

+

-