Table 2.
Cohort 1: Breakdown of germline mutations missed or identified using ctDNA analysis.
| Gene | Missed | Identified |
|---|---|---|
| No. of mutations | No. of mutations | |
| BRCA2 | 0 | 10 |
| BRCA1 | 0 | 8 |
| CHEK2* | 10 | 5 |
| CDKN2A | 2 | 4 |
| TP53 | 0 | 3 |
| ATM* | 8 | 2 |
| NF1 | 0 | 2 |
| KIT | 0 | 1 |
| RET | 0 | 1 |
| APC† | 1 | 0 |
| MLH1† | 1 | 0 |
| MITF† | 7 | 0 |
| SDHA† | 1 | 0 |
| NBN† | 3 | 0 |
| RECQL4† | 1 | 0 |
| FANCC† | 3 | 0 |
| NTHL1† | 5 | 0 |
| PALB2† | 3 | 0 |
| FLCN† | 1 | 0 |
| RAD51D† | 1 | 0 |
| HOXB13† | 3 | 0 |
| BRIP1† | 2 | 0 |
| MSH2† | 1 | 0 |
| BMPR1A† | 1 | 0 |
| PMS2† | 1 | 0 |
| Total | 55 | 36 |
*Gene added to ctDNA assay after start of study.
†Gene was not included on ctDNA assay at the time of testing.