Table 1.
Frequency of PMS2 c.2523G>A; p.W841X in a tumor testing cohort, germline exome sequencing study, and population databases
| Cohort | All Patients |
SIRE-Black/AFRa |
SIRE-White/EURa |
Othera |
|||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| n POS | n Total | % | n POS | n Total | % | n POS | n Total | % | n POS | n Total | % | # of Homo-zygotes | |
| NPOP FoundationOne-CDx | 22 | 19196 | 0.11% | 22 | 4170 | 0.53% | 0 | 13642 | - | 0 | 1384 | - | 1 (SIRE-Black) |
| NPOP FoundationOne- LiquidCDx | 2 | 2990 | 0.07% | 2 | 886 | 0.23% | 0 | 1920 | - | 0 | 184 | - | None |
| NPOP PGDX CP6 | 11 | 2982 | 0.37% | 11 | 731 | 1.50% | 0 | 2141 | - | 0 | 110 | - | None |
| NPOP Database (total) | 35 | 25168 | 0.14% | 35 | 5787 | 0.60% | 0 | 17703 | - | 1678 | |||
| Penn Medicine BioBank | 28 | 44256 | 0.06% | 25 | 10815 | 0.23% | 0 | 29239 | - | 3 | 4112 | 0.07% | None |
| GnomAD | 97 | 96159 | 0.10% | 91 | 7106 | 1.28% | 0 | 41415 | - | 5 | 47998 | 0.01% | 3 (AFR) |
POS, number of cases with an identified PMS2 p.W841X variant; SIRE, self-identified race/ethnicity.
a
Patients were categorized by self-identified race/ethnicity (SIRE) as SIRE-Black or SIRE-White or “Other” using the Veterans’ Affairs electronic health record for NPOP data. In the Penn Medicine BioBank and gnomAD, samples were categorized as “AFR,” “EUR,” or “Other” by genetic informed ancestry analysis.