Table 6 Characteristic of the cases undergoing reflex germline testing
Items | N (cases) | % |
|---|---|---|
Total cases | 130 | 100 |
Cases that underwent whole genome sequencing (WGS) | 7 | 5.4 |
Cases with pathogenic or likely pathogenic variants detected through tumor-only sequencing, planned for whole exome sequencing (WES) | 48 | 36.9 |
Possible candidates for whole exome sequencing (WES) | 20 | 15.4 |
Cases that underwent whole exome sequencing (WES) | 9 | 6.9 |
Cases loss of follow up | 5 | 3.8 |
Cases with no further clinical arrangements | 9 | 6.9 |
Cases expired | 14 | 10.8 |
Germline mutation detected, pathogenic variant | 4 | 3.1 |
Germline mutation detected, uncertain significance | 2 | 1.5 |
Germline mutation detected, benign | 5 | 3.8 |
Pending result of whole genome sequencing (WGS) or whole exome sequencing (WES) | 5 | 3.8 |