Table 4.
Genetic testing results (N=125 ) | N (75.0%) |
---|---|
Genetic testing completed | N=123 (98.4%) |
| |
Positive BRCA 1 or BRCA 2 | 18 (14.6 %) |
| |
Negative BRCA 1 or BRCA 2 | 17 (13.8%) |
| |
Negative NGS panel (including BRCA1/2) | 52 (42.3 %) |
| |
Positive non-BRCA gene on NGS panel∗∗ | 8 (6.5 %) |
| |
VUS – BRCA1 or BRCA2 | 9 (7.3 %) |
| |
VUS other∗∗∗ | 21 (17.1 %) |
| |
Genetic testing pending | 2 (1.6 %) |
NGS: next generation sequencing; VUS: variant of uncertain significance.
∗125 patients had undergone genetic testing during January 2015–December 2017. Results of the genetic tests were known for 123 patients, while results were pending for 2 patients.
∗∗Non-BRCA pathogenic variants detected: BRIP1, MUTYH heterozygote, PALB2, RAD51C, and TP53(mos).
∗∗∗Some patients had more than one VUS in multiple genes.