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) |
aPersonal and self-reported family history of syndrome-related findings are noted in Table 1