Table 1 –
Sample ID | Gene | Origin of mutation | Amino acid change | Nucleotide change | Mutation mechanism | Type of analysis |
---|---|---|---|---|---|---|
02 | BRCA2 | Germline | D3095E | c.9285C>G | Missense | Germline + somatic |
03 | BRCA2 | Somatic | E1646Qfs*23 | c.4936_4939delGAAA | Frameshift deletion | Germline + somatic |
14 | CHEK2 | Somatic | R519X* | c.1555C>T | Nonsense | Germline + somatic |
15 | ATM | Somatic | E2014X* | c.6040G>T | Nonsense | Germline + somatic |
18 | ATR | Germline | - | c.2634-1G>A | Splicing | Germline only |
19 | FANCI | Germline | K808X* | c.A2422T | Nonsense | Germline only |
20 | FANCL | Somatic | T372Nfs*4 | c.A2422T | Frameshift insertion | Germline + somatic |
29 | PALB2 | Somatic | - | c.212-2A>G | Splicing | Germline + somatic |
31 | FANCG | Germline | L53Afs*4 | c.156insG | Frameshift insertion | Germline + somatic |
32 | BRCA2 | Somatic | S3147Cfs*2 | c.9435_9436delGT | Frameshift deletion | Germline + somatic |