Table 6 BRCA1 and BRCA2 variants of unknown significance detected in breast and ovarian cancer families from Asturias
Gene | Exon | BIC nomenclature | HGVS nomenclature | Predicted effect | Nº families | Reference |
|---|---|---|---|---|---|---|
BRCA1 | 3 | 234T>A | c.115T>A | p.Cys39Ser | 1 | BIC, LOVD |
5 | 318G>T | c.199G>T | p.Asp67Tyr | 2 | BIC, LOVD | |
6 | c.287A>C | p.Asp96Ala | 1 | Novel | ||
10 | c.656A>T | p.Asp219Val | 1 | Novel | ||
11 | 1186A>G | c.1067A>G | p.Gln356Arg | 1 | BIC, LOVD | |
11 | 4158A>G | c.4039A>G | p.Arg1347Gly | 1 | BIC, LOVD | |
15 | 4654G>T | c.4535G>T | p.Ser1512Ile | 1 | BIC, LOVD | |
16 | 5075A>A | c.4956G>A | p.Met1652Ile | 2 | BIC, LOVD | |
17 | 5173C>T | c.5054C>T | p.Thr1685Ile | 1 | BIC, LOVD | |
19 | 5273G>T | c.5154G>T | p.Trp1718Cys | 2 | BIC, LOVD | |
21 | IVS20-6_IVS20-4del | c.5278-6_5278-4del | No effect | 1 | Campos et al. [42] | |
22 | IVS21-8C>T | c.5333-8C>T | Unkown | 1 | BIC | |
BRCA2 | 3 | IVS2-T7>A) | c.68-7T>A | p.Asp23_Leu105del | 2 | BIC, LOVD |
10 | c.1714G>A | p.Val572Ile | 1 | UMD-BRCA2 | ||
11 | 6110G>A | c.5882G>A | p.Ser1961Asn | 1 | BIC | |
11 | 6328C>T | c.6100C>T | p.Arg2034Cys | 2 | BIC, LOVD | |
11 | 6976A>G | c.6748A>G | p.Thr2250Ala | 1 | BIC, LOVD | |
11 | c.6847C>A | p.Pro2283Thr | 1 | Novel | ||
18 | c.8023A>G | p.Ile2675Val | 1 | UMD-BRCA2, LOVD | ||
20 | 8731T>C | c.8503T>C | p.Ser2835Pro | 2 | BIC, LOVD | |
22 | 9078G>T | c.8850G>T | p.Lys2950Asn | 1 | BIC, LOVD | |
27 | 10204A>T | c.9976A>T | p.Lys3326* | 2 | BIC, LOVD |