Table 2 All mutations and SNPs detected by the HRM approach were validated using Sanger sequencing method
Gene | Patient code | Exon | HRM result | Sequencing result | Mutation type | Systematic nomenclature | SNP | Manifestation, age at diagnosis | Family history | Ethnic origin |
|---|---|---|---|---|---|---|---|---|---|---|
BRCA1 | Br 23 | 11 H | Positive | Positive | c.2805delA | 2924delA | _ | BC, 41y | M aunt, BC 42 y | Berber |
Br 24 | 11 H | Positive | Positive | c.3279delC | 3398delC | _ | BC, 32y | Mother, BC 49 y | Berber | |
Br 123 | 11 G | Positive | Positive | _ | _ | c.2612C > T | BC, 64y | No Family History | Berber | |
Br 12 | 11G | Positive | Positive | _ | _ | c.2612C > T | BC, 27y | No Family History | Arab |