Table 3. P/LP BRCA variants FALP cohort.
| BRCA1 (NM_007294.3) | Index cases |
|---|---|
| c.1044T>A (p.Cys348*) | 1* |
| c.1674del (p.Gly559Valfs*13) | 1 |
| c.1969C>T (p.Gln657*) | 1* |
| c.2486_2487del (p.Phe829*) | 1 |
| c.2960_2964del (p.Lys987Ilefs*3) | 1* |
| c.3331_3334del (p.Gln1111Asnfs*5) | 4 |
| c.3485del (p.Asp1162Valfs*48) | 1* |
| c.3756_3759del (p.Ser1253Argfs*10) | 1 |
| c.3759dup (p.Lys1254*) | 4 |
| c.3817C>T (p.Gln1273*) | 4 |
| c.4057_4061del (p.Glu1353*) | 1* |
| c.4065_4068del (p.Asn1355Lysfs*10) | 1 |
| c.5095C>T (p.Arg1699Trp) | 1* |
| c.514C>T (p.Gln172*) | 1* |
| c.70_73dup (p.Pro25Leufs*17) | 1 |
| Deletion (Exon 12) | 3 |
| Duplication (Exons 3-7) | 3 |
| c.4358-2323_4968del Partial Deletion (Exons 13-15) | 1 |
| Total | 31 |
| BRCA2 (NM_000059.3) | |
| c.145G>T (p.Glu49*) | 2 |
| c.2830A>T (p.Lys944*) | 1 |
| c.4740_4741dup (p.Glu1581Valfs*37) | 8 |
| c.5146_5149del (p.Tyr1716Lysfs*8) | 8 |
| c.5439del (p.Val1814*) | 2 |
| c.6024dup (p.Gln2009Alafs*9) | 1 |
| c.6220del (p.His2074Thrfs*7) | 1 |
| c.6275_6276deITT(p.leu2092Profs*7) | 1 |
| c.6445_6446del (p.Ile2149*) | 1 |
| c.6468_6469del (p.Gln2157Ilefs*18) | 1 |
| c.6727_6728insAT (p.Ser2243Tyrfs*38) | 1 |
| c.8068_8069del (p.Val2690Phefs*2) | 2 |
| c.8987T>A (p.Leu2996*) | 1 |
| Total | 30 |
*
Not previously reported in Chilean literature
Variants in bold correspond to founder variants reported by Alvarez et al [6]