Table 2.
Summary of the primary course of action likely to result from the molecular testing
| Patient | SNP or mutation (allelic fraction) | Proposed action | UDT-Seq advantages a |
|---|---|---|---|
| AA1025 |
rs113993959 (Het) |
CFTR genetic counseling |
Germline |
| AA1090 |
CDKN2A-A85D (66%) |
CDK4/6 inhibitor |
|
| FGFR1 amplification |
FGFR1/2 inhibitor |
CNA |
|
| AA1106 |
ERBB2-L755S (17%) |
Trastuzumab |
|
| PTEN-frameshift (5%) |
PIK3CA inhibitor |
Depth |
|
| BRCA2-I1418T (4%) |
PARP inhibitor |
Depth |
|
| AA1204b |
PIK3CA-H1047R (26%) |
PIK3CA inhibitor |
Sensitivity |
| Her2 amplification |
Trastuzumab |
CNA |
|
| AA1222b |
Her2 amplification |
Trastuzumab |
CNA |
| AA1247b |
Her2 amplification |
Trastuzumab |
CNA |
| ERBB2-D769H (5%) |
Depth |
||
| AA1267 |
PIK3CA-H1047R (45%) |
PIK3CA inhibitor |
|
| AA1277 |
rs80357508 (Het) |
BRCA1 genetic counseling |
Germline |
| FGFR2 amplification |
FGFR1/2 inhibitor |
CNA |
|
| AA948 |
PIK3CA-E545K (34%) |
PIK3CA inhibitor |
Sensitivity |
| AA952 |
PIK3CA-E545K (16%) |
PIK3CA inhibitor |
|
| BRCA1-W306* (18%) |
PARP inhibitor |
|
|
| BRCA1-E550K (13%) | |||
| JAK2-S131L (16%) |
JAK inhibitor |
|
|
| JAK3-I386M (13%) | |||
| rs1801160 (Het) |
5-FU toxicity |
Germline |
|
| AA957 |
PIK3CA-E542K (28%) |
PIK3CA inhibitor |
|
| AA1515 |
PIK3CA-E545K (70%) |
PIK3CA inhibitor |
|
| UCI1546879 |
PIK3R1-K204E (30%) |
PIK3CA inhibitor |
|
| UCI1689380 |
RARA-337 T (14%) |
RARA inhibitor |
|
| BRAF amplification |
Vemurafenib |
|
|
| UCI1908503b |
PIK3CA-H1047R (40%) |
PIK3CA inhibitor |
|
| Her2 amplification |
Trastuzumab |
CNA |
|
| UCI1951813 |
PIK3CA-E545K (7%) |
PIK3CA inhibitor |
Sensitivity |
| UCI2076630b |
Her2 amplification |
Trastuzumab |
CNA |
| UCI2224680 |
BRCA2-L1829F (2%) |
PARP inhibitor |
Depth |
| UCI2564879 |
PIK3R1-K204E (30%) |
PIK3CA inhibitor |
|
| UCI2649875 |
AKT1-L52R (63%) |
AKT inhibitor |
|
| FGFR1 amplification |
FGFR1/2 inhibitor |
CNA |
|
| UCI4216548 |
FGFR1-D683H (13%) |
FGFR1/2 inhibitor |
|
| UCI8965412b |
Her2 amplification |
Trastuzumab |
CNA |
| ABL2 amplification |
Imatinib |
CNA |
|
| UCI1804937 |
rs1801160 (Het) |
5-FU toxicity |
Germline |
| UCI2008866 |
rs1801160 (Het) |
5-FU toxicity |
Germline |
| UCI3564897 | PIK3CA amplification | PIK3CA inhibitor | CNA |
5-FU, 5-fluorouracil; SNP, single nucleotide polymorphism. aDepth, accurate calls at low allelic fraction (<10%); sensitivity, accurate calls in heterogeneous samples; CNA, inference of copy number alterations; germline, inclusion of a matched germline DNA. bHer2-positive determined through standard of care.