Table 1 Clinical testing summary
Syndrome | Gene(s) tested | Patients testeda | Total positive sequence and LR mutations | Total LR (% of positive mutations) | LR by gene (% of LR) |
|---|---|---|---|---|---|
HBOC | BRCA1 | 13,124 | 2,186 | 185 (8.5%) | 167 (90.3%) |
BRCA2 | 18 (9.7%) | ||||
Lynch syndrome | MLH1 | 18,498 | 1,098 | 189 (17.2%) | 51 (27.0%) |
MSH2 | 109 (57.7%) | ||||
MSH6 | 10 (5.3%) | ||||
EPCAM | 8 (4.2%) | ||||
EPCAM/MSH2 | 11 (5.8%) | ||||
Polyposis | APC | 2,739 | 324 | 31 (9.6%) | 31 (100%) |