Table 1.
Patients with BRCA homopolymeric indels with allele frequency above the thresholds as compared with the control population; patients 1–4 were validated outliers from the study cohort, patients I and II were first identified through germline testing.
| Patient # | Age at diagnosis (y) | Analysed tissue | Tumour cellularity | Outlier variants | Allele frequency in tumour | Confirmed at sanger sequencing in tumour and germline |
|---|---|---|---|---|---|---|
| 1 | 78 | Primary tumour (post-CT) | 20% | BRCA1 c.1961del p. (Lys654Serfs*47) | 41.43% | No |
| BRCA2 c.8940del p. (Glu2981Lysfs*7) | 22.42% | No | ||||
| 2 | 33 | Relapse | 80% | BRCA2 c.3860dup p. (Asn1287Lysfs*2) | 18.93% | No |
| 3 | 62 | Primary tumour | 80% | BRCA2 c.4284dup p. (Gln1429Serfs*9) | 50.22% | Yes (germline) |
| 4 | 55 | Primary tumour | 70% | BRCA2 c.8021dup p. (Ile2675Aspfs*6) | 35.37% | No |
| I | 44 | Relapse | 80% | BRCA1 c.1016dup p. (Val340Glyfs*6) | 75.80% | Yes (germline) |
| II | 50 | Primary tumour | 70% | BRCA2 c.1813del p. (Ile605Tyrfs*9) | 85.87% | Yes (germline) |
CT chemotherapy.