TABLE 2.
Homologous Recombination Deficiency Assessment
| Histology | BRCA1/2 PV | Biallelic/Monoallelicd | Mutational Signature | LOH | LST | TAI | HRD-Sum | HR Profiler | R/NRe |
|---|---|---|---|---|---|---|---|---|---|
| Miscellaneous neoplasm, NOS | BRCA1_p.K679*_0.4871a | Biallelic | Other | 2 | 25 | 14 | 41 | 0.00 | R |
| Invasive breast carcinoma | BRCA1_p.L1086*_0.3634a | Monoallelic | MMR | 7 | 14 | 12 | 33 | 0.00 | NE |
| Salivary gland cancer | BRCA1_p.L28Rfs*3_0.437a | Monoallelic | Other | 2 | 23 | 12 | 37 | 0.00 | NR |
| Breast cancer, NOS | BRCA1_p.Q563*_0.5217a | Monoallelic | BRCA1/2 | 1 | 19 | 12 | 32 | 0.00 | NR |
| Adenocarcinoma—pancreas | BRCA2_p.K3326*_0.4615b | Monoallelic | Other | 4 | 22 | 7 | 33 | 0.00 | NE |
| Squamous cell carcinoma—anus | BRCA2_p.Q1925*_0.3719a | Monoallelicd | Other | 9 | 11 | 14 | 34 | 0.00 | NR |
| Invasive breast carcinoma | BRCA1_p.E670*_0.2992a | Monoallelicd | POLE | 8 | 8 | 8 | 24 | 0.04 | NR |
| Adenocarcinoma—colon | BRCA2_p.S2219*_0.1089a | Monoallelicd | Other | 14 | 24 | 33 | 71 | 0.07 | NR |
| Adenocarcinoma—pancreas | BRCA2_p.K3326*_0.785b | Biallelic | Other | 9 | 25 | 16 | 50 | 0.12 | NE |
| Invasive breast carcinoma | BRCA2_p.Q1507*_0.5593a | Monoallelicd | AID/APOBEC | 14 | 23 | 11 | 48 | 0.32 | NR |
| Melanoma | BRCA1_p.S713*_0.65a | Biallelic | Other | 12 | 19 | 25 | 56 | 0.54 | NR |
| Ovarian epithelial cancer | BRCA1_p.N1355Kfs*10_0.9649a | Biallelic | BRCA1/2 | 17 | 27 | 26 | 70 | 0.61 | NR |
| Carcinoma, NOS | BRCA2_p.V1283Kfs*2_1a | Biallelic | UV | 15 | 18 | 16 | 49 | 0.82 | NE |
| Invasive breast carcinoma | BRCA2_p.W1692Mfs*3_0.5a | Biallelic | BRCA1/2 | 18 | 24 | 33 | 75 | 0.86 | NR |
| Invasive breast carcinoma | BRCA1_p.E23Vfs*17_0.8144c | Biallelic | BRCA1/2 | 16 | 27 | 33 | 76 | 0.90 | NR |
| Gall bladder carcinoma (adeno) | BRCA2_p.I2449Dfs*2_0.7339a | Biallelic | BRCA1/2 | 26 | 32 | 38 | 96 | 0.97 | NR |
| Neuroendocrine cancer NOS | BRCA2_p.I1859Kfs*3_0.85a | Biallelic | BRCA1/2 | 22 | 31 | 30 | 83 | 0.97 | NR |
| Ovarian epithelial cancer | BRCA2_p.R3128*_0.6218a | Biallelic | BRCA1/2 | 29 | 31 | 35 | 95 | 0.99 | R |
| Invasive breast carcinoma | BRCA1_p.P1315Dfs*12_0.6986a | Biallelicd | BRCA1/2 | 23 | 31 | 33 | 87 | 0.99 | NE |
| Fallopian tube carcinoma | BRCA1_p.Q1756Pfs*74_0.7093c | Biallelic | BRCA1/2 | 31 | 32 | 34 | 97 | 0.99 | R (PR) |
| Adenocarcinoma—pancreas | BRCA2_p.N588Kfs*26_0.4783a | Biallelicd | BRCA1/2 | 33 | 37 | 33 | 103 | 1.00 | NR |
| Female reproductive system cancer NOS | BRCA1_p.E23Vfs*17_0.6996b | Biallelic | BRCA1/2 | 19 | 30 | 33 | 82 | 1.00 | R |
Abbreviations: CR, complete response; HR, homologous recombination; HRD, homologous recombination deficiency; LOH, loss of heterozygosity; LST, large-scale transitions; NE, nonevaluable; NOS, not otherwise specified; NR, nonresponder; PD, progressive disease; PR, partial response; R, responder; SD, stable disease; TAI, telomeric allelic imbalance.
Mutation likely oncogenic.
Mutation likely neutral.
Mutation oncogenic.
Somatic mutation (germline if not indicated).
Clinical benefit status, defined as defined as R (CR + PR + SD >6 months) or NR (PD + SD <6 months).