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. Author manuscript; available in PMC: 2018 Jul 20.
Published in final edited form as: Am Soc Clin Oncol Educ Book. 2016;35:e72–e78. doi: 10.14694/EDBK_160391

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.