Skip to main content
. Author manuscript; available in PMC: 2026 Jul 7.
Published in final edited form as: JCO Precis Oncol. 2026 Jun 17;10(6):e2500769. doi: 10.1200/PO-25-00769

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.

a

Mutation likely oncogenic.

b

Mutation likely neutral.

c

Mutation oncogenic.

d

Somatic mutation (germline if not indicated).

e

Clinical benefit status, defined as defined as R (CR + PR + SD >6 months) or NR (PD + SD <6 months).