Table 4 Frequency of personal and self-reported family historya of syndrome-related phenotypes pre-result disclosure in participants identified via MyCode
Gene | Personal history of ETS-associated feature(s) | Self-reported family history of ETS-associated feature(s) | Met genetics referral criteria |
|---|---|---|---|
All n=65 | 8% (n=5/65) | 25% (n=16/65) | 11% (n=7/65) |
MEN1 n=2 | 0% (n=0/2) | 100% (n=2/2) | 0% (n=0/2) |
RET n=31 | 0% (n=0/31) | 26% (n=8/31) | 10% (n=3/31) |
VHL n=1 | 0% (n=0/1) | 0% (n=0/1) | 0% (n=0/1) |
SDHx n=31 | 16% (n=5/31) | 19% (n=6/31) | 13% (n=4/31) |
SDHAF2 n=2 | 0% (n=0/2) | 50% (n=1/2) | 0% (n=0/2) |
SDHB n=15 | 27% (n=4/15) | 27% (n=4/15) | 20% (n=3/15) |
SDHC n=9 | 0% (n=0/9) | 11% (n=1/9) | 0% (n=0/9) |
SDHD n=5 | 20% (n=1/5) | 0% (n=0/5) | 20% (n=1/5) |