Research Article

Direct Genetics Referral Pathway for High-Grade Serous Ovarian Cancer Patients: The “Opt-Out” Process

Table 4

Genetic testing outcomes.

Genetic testing results (N=125 )N (75.0%)

Genetic testing completedN=123 (98.4%)

 Positive BRCA 1 or BRCA 218 (14.6 %)

 Negative BRCA 1 or BRCA 217 (13.8%)

 Negative NGS panel (including BRCA1/2)52 (42.3 %)

 Positive non-BRCA gene on NGS panel8 (6.5 %)

 VUS – BRCA1 or BRCA29 (7.3 %)

 VUS other21 (17.1 %)

Genetic testing pending2 (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.