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Table 1 Types of mutations

From: BRCA1 and BRCA2 mutation spectrum – an update on mutation distribution in a large cancer genetics clinic in Norway

Type of mutation

BRCA1

BRCA2

Frame shift

49

45

Stop

38

25

Rearrangement

12

4

Missense

11

4

Splice variant

9

7

Start loss

1

1

In frame deletion

0

1

 

120

87

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Hereditary Cancer in Clinical Practice

ISSN: 1897-4287