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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