Table 2.
Pathogenic n=25 (%) | VUS n=40 (%)* | ||
---|---|---|---|
High risk | APC | 1 (4) | |
BRCA1 | 9 (36) | 3 (7.5) | |
BRCA2 | 10 (40) | 6 (15) | |
CDH1 | 2 (5) | ||
CDKN2A | 1 (2.5) | ||
MLH1 | 1 (2.5) | ||
MSH2 | 1 (2.5) | ||
MSH6 | 3 (7.5) | ||
MUTYH | 3 (12) | 1 (2.5) | |
PMS2 | 3 (7.5) | ||
PTEN | 3 (7.5) | ||
STK11 | 1 (2.5) | ||
TP53 | 1 (4) | ||
Moderate risk | ATM | 8 (20) | |
CHEK2 | 1 (2.5) | ||
NF1 | 1 (2.5) | ||
PALB2 | 1 (4) | 2 (5) | |
Newer genes | RAD50 | 2 (5) | |
RAD51 | 1 (2.5) |
Thirty-four study participants had VUS results, however five participants had more than one VUS detected.