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Table 2 Germ line BRCA1 pathogenic mutations in breast and ovarian cancer families from Asturias

From: Mutational analysis of BRCA1 and BRCA2 in hereditary breast and ovarian cancer families from Asturias (Northern Spain)

Exon

BIC nomenclature

HGVS nomenclature

Predicted effect

N families

Families origen

Comments

2

185delAG

c.68_69delAG

p.Glu23Valfs

1

Asturias

Ashkenazi Founder

5

330A>G

c.211A>G

p.Arg71Gly

9

Galicia

Galician Founder

8

589delCT

c.470_471delCT

p.Ser157*

3

Asturias

Spain/Worldwide

11

910del4

c.791_794delGTTC

p.Ser264Metfs

1

Castilla/León

Spain

11

 

c.1674delA

p.Gly559Valfs

1

Asturias

Novel

11

1806C>T

c.1687C>T

p.Gln563*

1

Castilla/León

Spain/Sweden Founder

11

 

c.1965C>A

p.Tyr655*

1

Asturias

Novel

11

 

c.2900_2901dupCT

p.Pro968Leufs

8

Asturias

Novel

11

3450del4

c.3331_3334delCAAG

p.Gln1111Asnfs

6

Several

Spain/Worldwide

11

3808T>G

c.3689T>G

p.Leu1230*

1

Castilla/León

Spain/Portugal

11

3889delAG

c.3770_3771delAG

p.Glu1257Glyfs

2

Several

Spain/Worldwide

11

4184del4

c.4065_4068delTCAA

p.Asn1355Lysfs

1

Asturias

Worldwide

18

5236G>C

c.5117G>C

p.Gly1706Ala

1

Asturias

Spain/Europe

 

LARGE GENOMIC REARRANGEMENTS

   

1 -24

 

BRCA1 del Ex 1-24

 

1

Asturias

Spain/Europe

1-13

 

BRCA1 del Ex 1-13

 

1

Asturias

Spain/Europe

20

 

BRCA1 del Ex 20

 

1

Asturias

Europe

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BMC Cancer

ISSN: 1471-2407

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