Table 3 Comparison between the most recent reports on the performance of inherited cancer panels
Study | Sample Size | Panel Size | Panel Positive Ratea | VUS Rate | Genes in common | Panel Non-BRCA positive ratea | Panel Non-LS positive ratea | Study Cohort |
|---|---|---|---|---|---|---|---|---|
Current Study | 630 | 27 genes | 10.3% | 32.7% | – | 7.1% | 8.1% | Prospective commercial laboratory cohort unselected for NCCN, or previous BRCA/LS testing tested on a panel that includes BRCA1/2 and LS genes |
Lincoln, et al. 20157 | 735 | 29 genes | 12.4%b | 41.0%c | 23 | 3.5% | 11.3% | NCCN HBOC enriched clinical referral cohort tested on a panel that includes BRCA1/2 and LS genes |
Yurgelun, et al. 20152 | 1260 | 25 genes | 12.4% | 38.0% | 25 | 11.2% | 3.3% | NCCN LS enriched cohort tested on a panel that includes BRCA1/2 and LS genes |
Yurgelun et al. 20178 | 1058 | 25 genes | 8.2% | 31.2% | 25 | 7.2% | 5.1% | Unselected CRC care clinic based cohort tested on a panel that includes BRCA1/2 and LS genes |
Ring, et al. 20169 | 381 | 25 genes | 9.2% | 26.0% | 25 | 8.7% | 3.4% | Society of gynecologic oncology criteria for endometrial cancer enriched cohort tested on a panel that includes BRCA1/2 and LS genes |
Minion et al., 201510 | 911 | 21 genes | 7.4% | 27.1% | 19 | 7.4% | 5.9% | BRCA1/2 test negative cohort with a personal history of HBOC tested on a panel that includes BRCA1/2 and LS genes |
Tung, et al. 201511,d | 1781 | 25 genes | 13.5% | 41.7% | 25 | 4.3% | 13.1% | Commercial laboratory BRCA1/2 referral cohort tested on a panel that includes BRCA1/2 and LS genes |
LaDuca, et al. 201412 | 425 | 22 genes | 9.6% | 23.5% | 20 | 9.6% | 7.8% | Commercial laboratory cohort tested on a cancer panel that did not include BRCA1/2 but included LS genes |
LaDuca, et al. 201412 | 874 | 14 genes | 7.4% | 19.8% | 12 | 7.4% | 7.4% | Commercial laboratory high risk of HBOC selected cohort tested on a panel that did not include BRCA1/2 but included LS genes |
Mannan, et al. 201613 | 141 | 13 genes | 36.2% | 14.8% | 13 | 9.9% | 36.2% | Unrelated patients and families with HBOC tested on a panel that did not include LS genes but included BRCA1/2 |
Susswein, et al. 201614,e | 2056 | 29 genes | 10.2% | 34.7% | 25 | Not inferred | Not inferred | Commercial laboratory referral cohort tested on a panel that includes BRCA1/2 and LS genes |