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Table 3 Candidate breast cancer genetic risk factors

From: Characterization of familial breast cancer in Saudi Arabia

Chr.

Position

Gene Name

Refseq

Nucleotide change

Amino acid change

9

133748391

ABL1

NM_007313

c.1109T>C

p.Met370Thr

4

41015755

APBB2

NM_001166050

c.680C>G

p.Ser227*

5

112157653

APC

NM_001127511

c.1319T>C

p.Phe440Ser

5

112175675

APC

NM_001127511

c.4330A>G

p.Lys1444Glu

X

55028750

APEX2

NM_014481

c.308T>G

p.Phe103Cys

2

68740731

APLF

NM_173545

c.541G>A

p.Glu181Lys

9

32987778

APTX

NM_001195249

c.247C>A

p.Pro83Thr

7

97498324

ASNS

NM_133436

c.145C>T

p.Arg49Trp

3

48506356

ATRIP

NM_032166

c.2101C>T

p.His701Tyr

12

56994493

BAZ2A

NM_013449

c.4580G>A

p.Arg1527Gln

11

117261519

CEP164

NM_014956

c.1961C>T

p.Ala654Val

11

72070023

CLPB

NM_030813

c.766A>C

p.Asn256His

11

61097050

DDB1

NM_001923

c.334A>T

p.Ile112Phe

11

61099086

DDB1

NM_001923

c.139G>A

p.Glu47Lys

1

10529353

DFFA

NM_004401

c.179C>T

p.Thr60Ile

11

46396161

DGKZ

NM_201532

c.1517T>C

p.Phe506Ser

1

44680377

DMAP1

NM_001034023

c.200A>T

p.Asp67Val

4

110901232

EGF

NM_001178130

c.2158C>T

p.Arg720Cys

4

110915959

EGF

NM_001178130

c.2805T>A

p.Cys935*

7

55231449

EGFR

NM_201282

c.1655A>C

p.Asn552Thr

10

50740827

ERCC6

NM_000124

c.184G>A

p.Ala62Thr

16

89851328

FANCA

NM_000135

c.1404G>T

p.Lys468Asn

6

30521271

GNL1

NM_005275

c.664C>G

p.Leu222Val

10

96306191

HELLS

NM_018063

c.89T>A

p.Met30Lys

1

153742705

INTS3

NM_023015

c.2421G>C

p.Gln807His

1

153744835

INTS3

NM_023015

c.2740A>T

p.Lys914*

6

42985075

KLHDC3

NM_057161

c.145T>G

p.Phe49Val

17

8273384

KRBA2

NM_213597

c.547C>T

p.Arg183*

3

49167350

LAMB2

NM_002292

c.1327C>T

p.His443Tyr

6

52129538

MCM3

NM_002388

c.2275C>A

p.His759Asn

6

52148114

MCM3

NM_002388

c.169A>T

p.Lys57*

7

99691911

MCM7

NM_182776

c.1205C>A

p.Ala402Asp

6

30675438

MDC1

NM_014641

c.2918C>G

p.Ala973Gly

12

68719303

MDM1

NM_017440

c.551A>C

p.Asn184Thr

1

46073578

NASP

NM_001195193

c.803A>C

p.Gln268Pro

13

25049687

PARP4

NM_006437

c.1837C>T

p.Leu613Phe

22

38461037

PICK1

NM_001039583

c.182A>C

p.Asp61Ala

12

133237560

POLE

NM_006231

c.3055A>G

p.Ser1019Gly

12

133240651

POLE

NM_006231

c.2645A>G

p.Asn882Ser

6

43550079

POLH

NM_006502

c.23T>G

p.Val8Gly

11

7660974

PPFIBP2

NM_003621

c.1248C>A

p.Phe416Leu

11

7670122

PPFIBP2

NM_003621

c.1889T>C

p.Leu630Pro

2

1670120

PXDN

NM_012293

c.1157A>T

p.Asp386Val

2

1680732

PXDN

NM_012293

c.815A>T

p.Asn272Ile

19

13063505

RAD23A

NM_005053

c.816A>T

p.Gln272His

12

110957646

RAD9B

NM_152442

c.815T>A

p.Ile272Asn

4

39310618

RFC1

NM_001204747

c.1523A>C

p.Gln508Pro

9

94486015

ROR2

NM_004560

c.2761C>T

p.Pro921Ser

9

135171409

SETX

NM_015046

c.5956A>T

p.Arg1986Trp

9

135205531

SETX

NM_015046

c.1454G>C

p.Trp485Ser

6

146244812

SHPRH

NM_001042683

c.3512A>G

p.Lys1171Arg

10

69672638

SIRT1

NM_012238

c.1765G>T

p.Glu589*

16

18846451

SMG1

NM_015092

c.8093C>A

p.Thr2698Lys

12

104376700

TDG

NM_003211

c.602A>C

p.Lys201Thr

14

24711133

TINF2

NM_001099274

c.260T>C

p.Phe87Ser

17

38546386

TOP2A

NM_001067

c.4298A>C

p.Lys1433Thr

17

18178184

TOP3A

NM_004618

c.2938A>T

p.Lys980*

18

662218

TYMS

NM_001071

c.352T>G

p.Leu118Val

15

70971987

UACA

NM_001008224

c.812T>C

p.Val271Ala

8

103324043

UBR5

NM_015902

c.2338C>A

p.Gln780Lys

8

103359274

UBR5

NM_015902

c.433G>T

p.Gly145Cys

8

30949362

WRN

NM_000553

c.1846G>C

p.Ala616Pro

8

31030529

WRN

NM_000553

c.4210A>G

p.Lys1404Glu

12

58345668

XRCC6BP1

NM_033276

c.443C>T

p.Ala148Val