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Table 4 BRCA1 gene polymorphism in probands without BRCA1 and BRCA2 gene mutation as shown by sequencing

From: Selected Aspects of Molecular Diagnostics of Constitutional Alterations in BRCA1 and BRCA2 Genes Associated with Increased Risk of Breast Cancer in the Polish Population

Nucleotide

Amino acid swap

Exon/intron

Frequency

IVS8-58delT

NC

7

Wt/Wt 33

WT/delT 30

delT/delT 8

1186A/G

Gln356Arg

11

6

2430T/C

Leu771Leu

11

T/T 33

T/C 30

C/C 8

2731 C/T

Pro871Leu

11

C/C 33

C/T 30

T/T 8

3367A/G

Lys1183Arg

11

A/A 33

A/G 30

G/G 8

4427T/C

Ser1436Ser

13

T/T 33

T/C 30

C/C 8

4956A/G

Ser1613Gly

16

A/A 33

A/G 30

G/G 8

IVS18+66G/A

NC

18

G/G 33

G/A 30

A/A 8

IVS20+60ins12

NC

20

2

  1. NC - non-coding sequence; Wt - wild-type sequence
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Hereditary Cancer in Clinical Practice

ISSN: 1897-4287