Table 3.
Genetic mutations found in genes that maintain genome integrity in Lynch-like patients and general population allele frequencies of the germline mutations present
| ID | Gene | Mutation | ExACa
(non-TCGA) |
dbSNP 146 | Race |
|---|---|---|---|---|---|
| 6 | BARD1 | K352X 2: 215645487 T>A |
NA | NA | AA |
| 7 | WRN | Q1242X 8: 31012176 C>T |
2/106,208 | rs762379051 | WEA |
| 8 | MCPH1 | L542X 8: 6302868 T>G |
2/106,208 | rs748011724 | AA |
| 11 | REV3L | L418del 6: 111701384 CAAG>C |
2/106,208 | rs758595911 | AA |
a
Data from ExAC excluding the 7,601 cancer patients from the TCGA.
NA: not available; AA: African American; WEA: West European American.