Studies on Missense Changes and Unclassified Variants in BRCA1 and BRCA2


This table was generated from our database on 15-03-2002. We will continue to add references to this database and post updates on this site regularly.

 

Gene

Exon

Nucleotide

Base Change

Codon

AA Change

Designation

Reference

BRCA1

2

151

T to C

11

Val to Ala

V11A

(7)

BRCA1

2

172

T to C

18

Met to Thr

M18T

(7)

BRCA1

2

180

A to G

21

Ile to Val

I21V

(7)

BRCA1

2

189

T to C

24

Cys to Arg

C24R

(7)

BRCA1

3

212

C to G

31

Ile to Met

I31M

(7)

BRCA1

3

229

C to G

37

Thr to Arg

T37R

(7)

BRCA1

3

234

TG to GC

39

Cys to Ala

C39A

(1)

BRCA1

3

235

G to A

39

Cys to Tyr

C39Y

(7)

BRCA1

3

240

CA to GC

41

His to Ala

H41A

(1)

BRCA1

3

243

A to G

42

Ile to Val

I42V

(7)

BRCA1

5

270

CT to GC

51

Leu to Ala

L51A

(7)

BRCA1

5

300

T to G

61

Cys to Gly

C61G

(1)

BRCA1

5

300

T to G

61

Cys to Gly

C61G

(7)

BRCA1

5

300

TG to GC

61

Cys to Ala

C61A

(1)

BRCA1

5

300

T to G

61

Cys to Gly

C61G

(9)

BRCA1

5

309

TG to GC

64

Cys to Ala

C64A

(1)

BRCA1

5

310

G to A

64

Cys to Tyr

C64Y

(7)

BRCA1

5

330

A to G

71

Arg to Gly

R71G

(7)

BRCA1

16

4801

C to T

1561

Thr to Ile

T1561I

(5)

BRCA1

16

4810

T to C

1564

Leu to Pro

L1564P

(5)

BRCA1

16

5029

C to T

1637

Pro to Leu

P1637L

(4)

BRCA1

18

5208

T to C

1697

Cys to Arg

C1697R

(8)

BRCA1

18

5214

C to T

1699

Arg to Trp

R1699W

(8)

BRCA1

18

5215

G to T

1699

Arg to Leu

R1699L

(8)

BRCA1

18

5236

G to A

1706

Gly to Glu

G1706E

(8)

BRCA1

18

5242

C to A

1708

Ala to Glu

A1708E

(4)

BRCA1

18

5242

C to A

1708

Ala to Glu

A1708E

(8)

BRCA1

18

5242

C to A

1708

Ala to Glu

A1708E

(9)

BRCA1

18

5264

C to A

1715

Ser to Arg

S1715R (5264C>A)

(8)

BRCA1

18

5273

G to T

1718

Trp to Cys

W1718C

(8)

BRCA1

20

5317

A to G

1733

Asp to Gly

D1733G

(5)

BRCA1

20

5332

G to A

1738

Gly to Glu

G1738E

(5)

BRCA1

21

5443

T to G

1775

Met to Arg

M1775R

(8)

BRCA1

21

5443

T to G

1775

Met to Arg

M1775R

(6)

BRCA1

21

5443

T to G

1775

Met to Arg

M1775R

(4)

BRCA1

23

5535

C to G

1806

Pro to Ala

P1806A

(5)

BRCA1

24

5628

T to C

1837

Trp to Arg

W1837R

(8)

BRCA1

24

5628

T to C

1837

Trp to Arg

W1837G

(8)

BRCA2

11

4486

G to T

1420

Asp to Tyr

D1420Y (G>T)

(3)

BRCA2

11

4516

A to G

1430

Thr to Ala

T1430A

(3)

BRCA2

11

4813

G to A

1529

Gly to Arg

G1529R

(2)

References

     1.    Brzovic PS, Meza JE, King MC, Klevit RE (2001) BRCA1 RING domain cancer-predisposing mutations - Structural consequences and effects on protein-protein interactions. J Biol Chem, 276: 41399-41406.

     2.    Chen CF, Chen PL, Zhong Q, Sharp ZD, Lee WH (1999) Expression of BRC repeats in breast cancer cells disrupts the BRCA2-Rad51 complex and leads to radiation hypersensitivity and loss of G(2)/M checkpoint control. J Biol Chem, 274: 32931-32935.

     3.    Davies AA, Masson JY, Mcllwraith MJ, Stasiak AZ, Stasiak A, Venkitaraman AR, West SC (2001) Role of BRCA2 in control of the RAD51 recombination and DNA repair protein. Mol Cell, 7: 273-282.

     4.    Futreal P, Liu Q, Shattuck-Eidens D, Cochran C, Harshman K, Tavtigian S, Bennett L, Haugen-Strano A, Swensen J, Miki Y, Eddington K, McClure M, Frye C, Weaver-Feldhaus J, Ding W, Gholami Z, Soederkvist P, Terry L, Jhanwar S, Berchuck A, Iglehart J, Marks J, Ballinger D, Barrett J, Skolnick M, Kamb A, Wiseman R (1994) BRCA1 mutations in primary breast and ovarian carcinomas. Science, 266: 120-122.

     5.    Hayes F, Cayanan C, Barilla D, Monteiro ANA (2000) Functional assay for BRCA1: Mutagenesis of the COOH- terminal region reveals critical residues for transcription activation. Cancer Res, 60: 2411-2418.

     6.    Miki Y, Swensen J, Shattuck-Eidens D, Futreal P, Harshman K, Tavtigian S, Liu Q, Cochran C, Bennett L, Ding W, Bell R, Rosenthal J, Hussey C, Tran T, McClure M, Frye C, Hattier T, Phelps R, Haugen-Strano A, Katcher H, Yakumo K, Gholami Z, Shaffer D, Stone S, Bayer S, Wray C, Bogden R, Dayananth P, Ward J, Tonin P, Narod S, Bristow P, Norris F, Meera Khan P, Morrison P, Rosteck P, Lai M, Barrett J, Lewis C, Neuhausen S, Cannon-Albright L, Goldgar R, Kamb A, Wiseman R, Skolnick M (1994) A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science, 266: 66-71.

     7.    Ruffner H, Joazeiro CA, Hemmati D, Hunter T, Verma IM (2001) Cancer-predisposing mutations within the RING domain of BRCA1: Loss of ubiquitin protein ligase activity and protection from radiation hypersensitivity. Proc Natl Acad Sci USA, 98: 5134-5139.

     8.    Williams RS, Green R, Glover JNM (2001) Crystal structure of the BRCT repeat region from the breast cancer-associated protein BRCA1. Nature Struct Biol, 8: 838-842.

     9.    Zhong Q, Chen CF, Li S, Chen YM, Wang CC, Xiao J, Chen PL, Sharp ZD, Lee WH (1999) Association of BRCA1 with the hRad50-hMre11-p95 complex and the DNA damage response. Science, 285: 747-750.