Table 5.
Frequency of BRCA gene mutation in uLMS.
| Authors | Patients (n) | Methods | Deletion | Truncating Mutation |
|---|---|---|---|---|
| Chudasama et al. [51] | 10 | WES | Total: 5 (50%) | 0 |
| Homozygous: 1 (10%) | ||||
| Hemizygous: 4 (40%) | ||||
| Rosenbaum et al. [54] | 121 | MSK-IMPACT™ | Total: 8 (7%) | 3 (2.5%) |
| Homozygous: 8 (7%) | ||||
| Hensley et al. [32] | 80 | MSK-IMPACT™ | Total: 4 (5%) | 2 (2.5%) |
| Homozygous: 4 (5%) | ||||
| Seligson et al. [52] | 61 | Database * | 6 (10%) | 0 |
* The Cancer Genome Atlas data were analyzed: uLMS, uterine leiomyosarcoma; n, number; WES, whole exome sequencing; MSK-IMPACT™, a targeted tumor-sequencing test for integrated mutation profiling of actionable cancer targets developed by the genome scientists, bioinformaticians, and molecular pathologists at Memorial Sloan Kettering Cancer Center.