Table 3.
Type of Genetic Test | n |
BRCA1 Positive |
BRCA2 Positive |
BRCA1/2 VUS |
Negative | Unknownǂ |
---|---|---|---|---|---|---|
Single site/Known familial mutation | 25 | 19 | 5 | 0 | 1 | 0 |
Ashkenazi Jewish founder mutations | 9 | 4 | 0 | 0 | 5 | 0 |
BRCA1/2 Sequencing only | 80 | 18 | 5 | 3 | 54 | 0 |
BRCA1/2 Sequencing + Del/Dup | 568 | 72 | 28 | 29 | 439 | 0 |
Gene panel including BRCA1/2 Sequencing + Del/Dup § | 164 | 13 | 6 | 6 | 136 | 3 |
Research testing only (no clinical testing) | 29 | 1 | 0 | 0 | 28 | 0 |
Unspecified clinical testing | 339 | 35 | 11 | 6 | 258 | 29 |
Total: | 1214 | 162 | 55 | 44 | 921 | 32 |
Abbreviations: VUS: Variant of uncertain significance, Del/Dup: Deletion and Duplication, also known as Large Rearrangement analysis
All unknown results were genetic tests performed outside of MD Anderson, with a copy of the results not available in the MD Anderson medical records.
Various genetic testing laboratories and their respective gene panel offerings were included together in this category.