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Table 4 BRCA1/2 variants found in more than 30 families

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

Gene

Variant

 

No. of individuals

No. of families

BRCA1

c.1016dup

p.Val340Glyfs*6

471

111

BRCA1

c.1556del

p.Lys519Argfs*13

399

95

BRCA2

c.5217_5223del

p.Tyr1739*

230

61

BRCA1

c.3178G > T

p.Glu1060*

147

46

BRCA1

c.3228_3229del

p.Gly1077Alafs*8

214

45

BRCA1

c.697_698del

p.Val233Asnfs*4

182

44

Total

  

1643

403

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Hereditary Cancer in Clinical Practice

ISSN: 1897-4287