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