Table 2.
UC (N/%) Total = 93 |
CES (N/%) Total = 93 |
P-valued | |
---|---|---|---|
CRCP related | |||
P/LP variant(s) | 5 (5.4%) | 7a (7.5%) | 0.28 |
VUS(s) | 15 (16.1%) | 21b (22.6%) | 0.13 |
Non-CRCPc related | |||
P/LP variant(s) | 5(5.4%) | 3(3.2%) | 0.77 |
VUS(s) | 1(1.1%) | 1(1.1%) | 0.50 |
One CES participant was compound heterozygous for 2 CRCP related P variants in the MUTYH gene
One CES participant had three CRCP related VUS findings (two in APC and one in AXIN2); one ES participants had two CRCP related VUS findings (one in APC, one in PTCH1); one CES participant had one CRCP related P variant (MSH2) and one CRCP related VUS finding (PMS2).
Non-CRCP related findings were due to non-CRCP genes on the UC multi-gene panels, not considered as SFs
P-value based on one-sided two-sample test of proportions