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Table 4 Pathogenic and likely pathogenic variants in 24 ACMG SF v2.0 cancer genes after expert review

From: Prevalence of pathogenic/likely pathogenic variants in the 24 cancer genes of the ACMG Secondary Findings v2.0 list in a large cancer cohort and ethnicity-matched controls

Classification Controls (982 exomes) All cases (1173 exomes) 1 case/family (738 exomes)
Pathogenic 6 (6) 5 (6) 3 (3)
Likely pathogenic 2 (2) 6 (8) 4 (5)
Prevalence of pathogenic and likely pathogenic variants 8/982 0.8% 95% CI 0.3–1.4% 14/1173 1.2% 95% CI 0.6–1.8% 8/738 1.1% 95% CI 0.3–1.8%
p value (controls vs. all cases)   0.5196  
p value (controls vs. 1 case/families)    0.6171
  1. Variants in MUTYH were excluded from counts since it underlies a recessive disorder and no MUTYH homozygotes or compound heterozygotes were observed in cases or controls. The first number represents unique variant count and number in parenthesis represents allele counts
  2. CI confidence interval