From: Novel mutations in the BRCA1 and BRCA2genes in Iranian women with early-onset breast cancer
Exon | Mutation and nucleotide change | Stop codon at amino acid | Coding effect | Screening method | Family history | Age at diagnosis (years) |
---|---|---|---|---|---|---|
2 | 185-186delAG | 39 (TGA) | Frameshift | SSCP/HA | 2 BC, 1 PS | 37 |
2 | 181-182insT | 40 (TGA) | Frameshift | SSCP/HA | 1 OV | 41 |
11 | 2335-2336delAA | 741 (TAA) | Frameshift | PTT | 2 BC <40 | 42 |
20* | 12 bp dup GTATTCCACTCC IVS20+48 | - | Polymorphism | SSCP/HA | 2 BC <42 | 27 |