Table 1 Variants identified in the BRCA1 and BRCA2 genes during this study.

A

4

-

20

5382ins C

Fs³

-

B

7

-

20

5331 G > A

G1738R

Colorectal (50)

C

4

1

23

5586G > A

Splicing

Larynx Lungs Genitalia

D

5

-

20

Deletion of the entire exon

Protein missing 20 a.a. of the BRCT-linker domain

Colorectal

E

3

-

20

5382ins C

Fs³

-

Benign polymorphisms

Exon

Codon

Nucleotide Change

Consequences

No of families

BRCA1

IVS 4

IVS4-19

C > A

-

1

IVS 7

IVS7-34

C > T

-

2

11

693

2196G > A

Asp > Asn

2

694

2201C > T

Ser > Ser

5

771

2430T > C

Leu > Leu

6

871

2731C > T

Pro > Leu

3

1038

3232A > G

Glu > Gly

7

1040

3238G > A

Ser > Asn

1

1145 ⁴

3544T > C

Val > Val

1

1150

3567C > T

Pro > Ser

1

1183

3667A > G

Lys > Arg

7

13

1436

4427T > C

Ser > Ser

4

16

1613

4956A > G

Ser > Gly

1

24

1829

5606G > A

Glu > Glu

2

BRCA2

10

372

1342A > C

Asn > His

1

11

1132

3624A > G

Lys > Lys

2

1269

4053T > C

Val > Val

1

14

2414

7470A > G

Ser > Ser

1