Table 1.
Characteristics of male BRCAm carriers with a diagnosis of tumor in SYSUCC cohort
| Variables | Male BRCAm carriers (n = 52) |
|---|---|
| Age at diagnosis (y) | |
| < 40 | 4(7.7) |
| 40–49 | 3(5.8) |
| 50–59 | 15(28.8) |
| 60–69 | 21(40.4) |
| 70–79 | 8(15.4) |
| ≥ 80 | 1(1.9) |
| Family history of tumor | |
| no | 35(67.3) |
| yes | 15(28.8) |
| unknown | 2(3.8) |
| Diagnose of multiple tumors | |
| no | 48(92.3) |
| yes | 2(3.8) |
| unknown | 2(3.8) |
| Anatomic site of tumor | |
| prostate | 19(36.5) |
| colon/rectum | 13(25.0) |
| stomach | 7(13.5) |
| lung | 4(7.7) |
| kidney | 2(3.8) |
| head and neck | 2(3.8) |
| breast | 1(1.9) |
| bladder | 1(1.9) |
| other | 3(5.8) |
| Histology | |
| adenocarcinoma | 38(73.1) |
| mucinous adenocarcinoma | 3(5.8) |
| urothelial carcinoma | 3(5.8) |
| squamous cell carcinoma | 2(3.8) |
| undifferentiated carcinoma | 2(3.8) |
| neuroendocrine carcinoma | 2(3.8) |
| other | 3(5.8) |
| TNM stage | |
| I | 1(1.9) |
| II | 6(11.5) |
| III | 15(28.8) |
| IV | 28(53.8) |
| unknown | 2(3.8) |
| BRCA1/2 mutation | |
| BRCA1 only | 16(30.8) |
| germline | 3(5.8) |
| somatic | 13(25.0) |
| both germline and somatic | 0(0.0) |
| BRCA2 only | 33(63.5) |
| germline | 4(7.8) |
| somatic | 26 (50.0) |
| both germline and somatic | 3(5.7) |
| both BRCA1 and BRCA2 | 3(5.8)a |
| MSI | |
| MSS | 26 (50.0) |
| MSI-H | 7(13.5) |
| unknown | 19(36.5) |
| TMB | |
| low (< 10 muts/Mb) | 17 (32.7) |
| moderate (10–20 muts/Mb) | 2(3.8) |
| high (> 20 muts/Mb) | 14 (26.9) |
| unknown | 19(36.5) |
| Surgery | |
| no | 17 (32.7) |
| yes | 34 (65.4) |
| unknown | 1(1.9) |
| Endocrinotherapy | |
| no | 40 (76.9) |
| yes | 11 (21.2) |
| unknown | 1(1.9) |
| Chemotherapy | |
| no | 16(30.8) |
| yes | 35(67.3) |
| unknown | 1(1.9) |
| Radiotherapy | |
| no | 36 (69.2) |
| yes | 15(28.8) |
| unknown | 1(1.9) |
| Immunotherapy | |
| no | 44 (84.6) |
| yes | 7(13.5) |
| unknown | 1(1.9) |
| Targeted therapy | |
| no | 47 (90.4) |
| yes | 4(7.7) |
| unknown | 1(1.9) |
| Tumor progression | |
| no | 29 (55.8) |
| yes | 22 (42.3) |
| unknown | 1(1.9) |
| Survival | |
| alive | 41 (78.9) |
| deceased | 10 (19.2) |
| unknown | 1(1.9) |
aSomatic mutation in both BRCA1 and BRCA2 is found in three cases
BRCA Breast cancer susceptibility gene, MSI Microsatellite instability, MSS Microsatellite stable, MSI-H Microsatellite instability-high, TMB Tumor mutational burden