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Table 3 Splice-site alterations detected in Czech high-risk breast/ovarian cancer patients.

From: Spectrum and characterisation of BRCA1 and BRCA2deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer

DNA level Gene/splice site BIC/systematic nomenclature Predicted consensus values* RNA level (systematic nomencl.) experimentally determined Protein level deduced Criteria of affected probands Comment
  acceptor donor     
BRCA1/IVS6, wild type 0,99   r.302-2_302-1ins p.Tyr101X III (bi-brca 35,55)  
c. 421-3C>G/c.302-3C>G new 0,9 at position -2      
BRCA1/exon 12, wild type   0,95 r.4097_4185del p.Gly1366AlafsX8 I (HBC) Cfr. Ref. [11]
c.4304G>A/c.4185G>A   0,36     
BRCA1/IVS15, wild type   0,44 r. [=, 4358_4675del, 4485_4675del, 4665_4675del, 4358_4484del+4665_4675del] p. [=, Ala1453_Leu1558del, Ser1496GlyfsX14, Gln1556GlyfsX14, Ala1453GlyfsX10] VII (brca 42)  
c.4794+1G>A/c.4675+1G>A   not predicted     
BRCA1/IVS18, wild type   0,95 Not analysed; all known mutation carriers were deceased p.? II (HBC) Highly suspected to be deleterious.
c.5271+2dupT/c.5152+2dupT   not predicted     
BRCA2/exon 5, wild type   0,95 r.326_475del p.Phe143GlyfsX26 I (HBC)  
c.703G>A/c.475G>A   0,46    VI (HBC-FA-I)  
BRCA2/IVS5, wild type 0,91   r. [326_516del, 476_516del] p. [Phe143ValfsX12, Val159GlyfsX10] I (HOC); II (HBC)  
c.704-2A>G/c.476-2A>G not predicted     IV (brca 27)  
      IV(brca 34)  
BRCA2/exon13, wild type   0,99 r. [6842_6937del, 6842_7007del, 6938_7007del] p. [Glu2281_Gly2313del, Gly2280AlafsX31, Gly2313Ala fsX31] I (HBC) Cfr. Ref. [25]
c.7235G>A/c.7007G>A   not predicted    V(male brca)  
BRCA2/IVS21, wild type not predicted   r.8755_8953del p.Gly2919fsX3 II (HBC)  
c.8983-1G>A/c.8755-1G>A not predicted      
BRCA2/IVS23, wild type   0,57 r.8954_9117del p.Val2985GlyfsX4 I (HBOC)  
c.9345+2T>A/c.9117+2T>A   not predicted     
BRCA2/IVS23, wild type 1,00   r.9118_9124del p.Val3040MetfsX20 I (HBC) Cfr. Ref. [11]
c.9346-2A>G/c.9118-2A>G cryptic 0,7      
  1. * Predicted consensus values by the Splice Site Prediction Program: Neural Networks [23].