TABLE 3.
Rate of Deleterious Mutations and VUS Reported in Multigene Testing Associated with Colorectal Cancer
Publication | No. Patients | Panel Tested | LS Genes (MLH1, MSH2, MSH6, PMS2, EPCAM) Mutations Detected (%) |
Non-LS Genes Mutations Detected (%) |
VUS Rate (%) |
---|---|---|---|---|---|
LaDuca et al43 | 557 | Ambry Genetics | 4.5%: MSH (7), MLH1 (7), PMS2 (6), MSH (5) | 4.7% (26): APC (6), CHEK2 (6), MUTYH biallelic (6), SMAD4 (4), PTEN (3), CDH1 (1), STK11 (1), TP53 (1) | 15.1% (84) |
Yurgelun et al44 | 1,260 | Myriad MyRisk Hereditary Cancer | 9.5% | 3.8% (48): BRCA1/2 (15), APC biallelic MUTYH, PTEN, STK11, ATM, BARD1, BRIP1, CHEK2, NBN, PALB2, and RAD51C | 44% |
Abbreviations: LS, Lynch syndrome; VUS, variants of uncertain significance.