From: Evaluation of ultra-deep targeted sequencing for personalized breast cancer care
Patient | SNP or mutation (allelic fraction) | Proposed action | UDT-Seq advantagesa |
---|---|---|---|
AA1025 | rs113993959 (Het) | CFTR genetic counseling | Germline |
AA1090 | CDKN2A-A85D (66%) | CDK4/6 inhibitor | Â |
FGFR1 amplification | FGFR1/2 inhibitor | CNA | |
AA1106 | ERBB2-L755S (17%) | Trastuzumab | Â |
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 | Â |
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 | Â |
BRCA1-W306* (18%) | PARP inhibitor | Â | |
BRCA1-E550K (13%) | |||
JAK2-S131L (16%) | JAK inhibitor | Â | |
JAK3-I386M (13%) | |||
rs1801160 (Het) | 5-FU toxicity | Germline | |
AA957 | PIK3CA-E542K (28%) | PIK3CA inhibitor | Â |
AA1515 | PIK3CA-E545K (70%) | PIK3CA inhibitor | Â |
UCI1546879 | PIK3R1-K204E (30%) | PIK3CA inhibitor | Â |
UCI1689380 | RARA-337Â T (14%) | RARA inhibitor | Â |
BRAF amplification | Vemurafenib | Â | |
UCI1908503b | PIK3CA-H1047R (40%) | PIK3CA inhibitor | Â |
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 | Â |
UCI2649875 | AKT1-L52R (63%) | AKT inhibitor | Â |
FGFR1 amplification | FGFR1/2 inhibitor | CNA | |
UCI4216548 | FGFR1-D683H (13%) | FGFR1/2 inhibitor | Â |
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 |