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Table 3 Comparison between the most recent reports on the performance of inherited cancer panels

From: Evaluation of a 27-gene inherited cancer panel across 630 consecutive patients referred for testing in a clinical diagnostic laboratory

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
  1. aAll positive rates are calculated without including MUTYH carriers
  2. bPanel positive rate was calculated from Supplemental Table S9, Clinical Referral Cohort (n = 735)
  3. cVUS rate calculated from entire cohort, including Clinical Referral (n = 735), History enriched (n = 327)
  4. dPositive and VUS rate calculated from cohort 1
  5. eOnly 2056 patients were tested for the comprehensive 29 gene panel