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Table 4 BRCA1/BRCA2 mutations and sequence variants reported in Indian populations.

From: Contribution of germline BRCA1 and BRCA2sequence alterations to breast cancer in Northern India

Gene

aExon

aNucleotide change

aAmino acid change

bMutation type

cMutation effect

Reported in BIC

dSaxena (2002); n = 20

dSaxena (2006); n = 204

dKumar (2002); n = 14

dValarmathi (2002); n = 13

dValarmathi (2004); n = 16

dHedau (2005); n = 124

BRCA1

1

22 C>G

 

5'UTR

UV

No

 

SC (35)

    

BRCA1

2

185 delAG

fs23 Stop 39

FS

PT

Yes

 

SC (40)

≥ 1 FDR br/ov

 

F01: br (40,35,34) F09: br (51,59,45,54,45,30) ov (51)

FH+

BRCA1

2

147 G>A

Glu 10 Lys

MS

UV

No

    

patient/obligate carrier

 

BRCA1

2

186 G>A

Glu 23 Lys

MS

UV

No

    

patient/obligate carrier

 

BRCA1

IVS-5

331+1 G>T

 

SS

UV

Yes

FH+(30) br(36) ov(46)

     

BRCA1

7

465 G>A

Glu 116 Lys

MS

UV

No

  

≥1 FDR br/ov

   

BRCA1

7

448 A>C

Lys 110 Thr

MS

UV

No

     

FH+(40)

BRCA1

7

459 T>C

Ser 114 Pro

MS

UV

No

     

FH+(35)

BRCA1

IVS-7

560+38 T>C

 

NC

UV

No

 

SC (30)

    

BRCA1

IVS-7

561-34 C>T

 

NC

PM

Yes

     

co-occurrence B1:185delAG

BRCA1

IVS-10

790-12 delG

 

NC

UV

No

 

SC (35)

SC (35)

SC (35)

SC (31)

    

BRCA1

11

1027 delA

fs303 Stop313

FS

PT

No

  

≥1 FDR br/ov

   

BRCA1

11

3596 del4

fs1159 Stop1159

FS

PT

Yes

 

SC (24)

    

BRCA1

11

3667A>G

Lys1183Arg

MS

PM

Yes

 

8% patients; 21% controls

  

patients and controls

 

BRCA1

11

3672 G>T

Glu 1185 Stop

NS

PT

No

    

F08: br (36,45)

 

BRCA1

11

3679 G>T

Ser 1187 Ile

MS

UV

Yes

    

patient/obligate carrier

 

BRCA1

11

3730 G>T

3740 G>C

Arg 1204 Ile

Lys 1207 Asn

MS

MS

UV

UV

No

No

    

F12: patient co-occurrence

 

BRCA1

11

3769C>A

Ser 1217 Tyr

MS

UV

No

    

patient/obligate carrier

 

BRCA1

11

3867 G>T

Glu 1250 Stop

NS

PT

Yes

   

F1: br (42,40,34)

  

BRCA1

11

3797 C>G

3846 A>G

Phe1226Leu

Arg1243Gly

MS

MS

UV

UV

No

No

    

F09: patient co-occurrence

 

BRCA1

11

4184del4

fs1355 Stop1364

FS

PT

Yes

 

FH+ (60) br: (M,3S)

    

BRCA1

12

4302 C>T

Gln 1395 Stop

NS

PT

Yes

     

FH+(40)

BRCA1

IVS-13

4476+2T>C

 

SS

UV

No

SC(30)

SC (30)

    

BRCA1

16

4956 A>G

Ser 1613 Gly

MS

PM

Yes

 

0.5% patients; 1.7% controls

    

BRCA1

16

5075 G>A

Met 1652 Ile

MS

UV

Yes

 

6.9% patients; 8.3% controls

    

BRCA1

16

4956 insG

fs1613 Stop1621

FS

PT

No

     

FH+(45)

BRCA1

17

5119 A>G

5154 C>T

Lys 1667 Arg

Leu 1679 Leu

MS

silent

UV

UV

No

 

FH+ (35) br: (M, S) co-occurrence

    

BRCA1

IVS-18

5271+66A>G

 

NC

PM

Yes

     

co-occurrence B1:185delAG

BRCA1

20

5341 T>G

Val 1741 Gly

MS

UV

No

   

2.7% controls

  

BRCA1

20

5364 C>G

Pro 1749 Ala

MS

UV

No

   

FH+ (30)

FH+ (38)

  

BRCA1

20

5379 G>T

Glu 1754 Stop

NS

PT

Yes

   

F2: br(40,39,32,29,27)

  

BRCA2

2

203 G>A

 

5'UTR

PM

Yes

    

patients and controls

patients and controls

BRCA2

IVS-2

295+90 T>A

 

NC

UV

No

 

SC (32)

    

BRCA2

IVS-3

545-54C>G

 

NC

PM

No

    

patients and controls

 

BRCA2

IVS-7

859+75A>T

 

NC

UV

No

 

SC (32)

    

BRCA2

IVS-8

909+56C>T

 

NC

UV

Yes

 

FH+ (52) br: (GM)

    

BRCA2

10

1593A>G

Ser 455 Ser

silent

PM

Yes

 

SC (48)

    

BRCA2

11

5227dupT

5639T>C

5929G>A

fs1667 Stop1676

Val1804Ala

Glu1901Lys

FS

MS

MS

PT

UV

UV

No

No

No

    

F11: br (24) co-occurrence

 

BRCA2

11

5242dupT

 

FS

PT

No

    

F03: br (45,41,28) ov (63)

 

BRCA2

11

6180dupA

fs1984 Stop2002

FS

PT

No

    

F02: br (39,40,32,29,27)

 

BRCA2

11

5624C>T

6515C>T

Thr 1679 Ile

Pro 2096 Leu

MS

MS

UV

UV

No

No

    

F12: br (36,45) co-occurrence

 

BRCA2

11

5007A>C

Glu 1593 Asp

MS

UV

Yes

MBC(45)

SC(32) not in cotrols

     

BRCA2

11

6376 ins AA

fs2049 Stop2051

FS

PT

No

 

SC (30)

    

BRCA2

14

7470A>G (PM)

Ser 2414 Ser

silent

PM

Yes

 

11.8% patients; 26.7% controls

    

BRCA2

18

8345A>G

Asn 2706 Ser

MS

UV

Yes

SC(30) B1:IVS13 co-occurrence

FH+(60) br(35,40) not in controls

-

    

BRCA2

19

8576 insC

fs2783 Stop2797

FS

PT

No

 

SC (35)

    

BRCA2

22

9079 G>A

Ala 2951 Thr

MS

PM

Yes

 

SC (40)

    

BRCA2

IVS-25

9729+58InsGG

 

NC

UV

No

 

FH+ (24) br: S

SC (30)

SC (45)

    

BRCA2

27B

9999delA

fs3258 Stop3275

FS

PT

No

 

SC (50)

    
  1. aGenbank BRCA1-HSU14680; Genbank BRCA2-; IVS – intervening sequence-intron number;
  2. bUTR – untranslated region; NC – non-coding; FS – frame shift; MS – missense; NS – nonsense.
  3. cSS – splice site; PT – protein truncating; MS – missense; UV – unclassified variant; PM – polymorphism.
  4. dn is the total number of independent families studied; (age of dx.); FH+ – family history present (M-mother, S-sister; GM-grandmother); FDR – first degree relative; MBC-male breast cancer; SC – sporadic cases; br – breast cancer; ov – ovarian cancer; br/ov – breast, breast-ovarian or ovarian cancer
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BMC Medical Genetics

ISSN: 1471-2350

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