Table 5.
Summary of HRM and sequencing results for the breast tumour panel
Sample ID | HRM results | Sequencing results | ||||||
Exon 5 5a | Exon 5 5b | Exon 6 | Exon 7 | Exon 8 | Nomenclature | Protein change | Exon | |
B1 | wt | wt | wt | wt | wt | NA | NA | NA |
B2 | wt | wt | wt | wt | wt | NA | NA | NA |
B3 | wt | MUT | wt | wt | wt | 524G>A | R175H | 5 |
B4 | wt | wt | wt | MUT | wt | 711G>A | M237I | 7 |
B5 | wt | wt | wt | wt | wt | NA | NA | NA |
B6 | wt | MUT | wt | wt | wt | 527G>T | C176F | 5 |
B7 | wt | wt | wt | wt | wt | NA | NA | NA |
B8 | wt | wt | wt | wt | wt | NA | NA | NA |
B9 | wt | wt | wt | MUT | wt | 711G>A | M237I | 7 |
B10 | wt | wt | wt | wt | wt | NA | NA | NA |
B11 | wt | wt | wt | wt | wt | NA | NA | NA |
B12 | wt | wt | wt | wt | wt | NA | NA | NA |
B13 | wt | wt | wt | wt | wt | NA | NA | NA |
B14 | wt | ? | wt | wt | wt | 531_533delC | frame shift, H178fs | 5 |
B15 | wt | wt | wt | wt | wt | NA | NA | NA |
B16 | wt | wt | MUT | wt | wt | 614A>T | Y205F | 6 |
B17 | wt | wt | wt | wt | wt | NA | NA | NA |
B18 | wt | wt | wt | wt | wt | NA | NA | NA |
B19 | wt | MUT | wt | wt | wt | 513_515delGinsAT | frame shift, V172fs | 5 |
B20 | wt | wt | wt | wt | wt | NA | NA | NA |
wt - wild-type, MUT – Mutant, het – heterozygous, hom – homozygous, ? – unable to score, NA – not applicable