Table 1.
Genes included in the breast cancer panel sequenced by UDT-Seq
| Gene | Rationale for inclusion a | Molecular eligibility for clinical trial | US FDA-approved pathway inhibitor | Pathway inhibitor in clinical testing |
|---|---|---|---|---|
|
PIK3CA |
S, |
Y |
|
Y |
|
PTEN |
S, G |
Y |
|
Y |
|
BRAF |
S, |
|
Y |
Y |
|
KRAS |
S, |
|
|
Y |
|
EGFR |
S, |
|
Y |
Y |
|
ALK |
S, |
Y |
Y |
Y |
|
ERBB2 |
S, |
Y |
Y |
Y |
|
JAK2 |
S, |
|
Y |
|
|
PDGFRB |
S, |
|
Y |
|
|
RET |
S, G |
|
Y |
|
|
JAK1 |
S, |
|
Y |
|
|
RARA |
S, |
|
Y |
|
|
TP53 |
S, G |
|
|
|
|
CDH1 |
S, |
|
|
|
|
GATA3 |
S, |
|
|
|
|
CTNNA1 |
S, |
|
|
|
|
RB1 |
S, G |
|
|
|
|
CDKN2A |
S, |
|
|
Y |
|
AKT1 |
S, |
|
Y |
Y |
|
APC |
S, G |
|
|
|
|
PIK3R1 |
S, |
|
|
|
|
BRCA1 |
S, G |
|
|
Y |
|
ERBB3 |
S, |
|
|
|
|
JAK3 |
S, |
|
Y |
|
|
NOTCH1 |
S, |
|
|
Y |
|
MET |
S, G |
|
Y |
Y |
|
FGFR2 |
S, |
Y |
|
Y |
|
ABL2 |
S, |
|
|
|
|
BRCA2 |
S, G |
|
|
Y |
|
CTNNB1 |
S, |
|
|
|
|
ERBB4 |
S, |
|
|
Y |
|
FGFR1 |
S, |
Y |
|
Y |
|
FGFR1OP |
S, |
|
|
|
|
PALB2 |
S, G |
|
|
|
|
TOP1 |
S, |
|
Y |
|
|
DPD |
P (capecitabine/5-fluorouracil) |
|
|
|
|
TPMT |
P (6-mercaptopurine thioguanine) |
|
|
|
|
CYP2D6 |
P (tamoxifen (+/-)) |
|
|
|
|
CYP2C9 |
P (warfarin) |
|
|
|
|
VKORC1 |
P (warfarin) |
|
|
|
|
CFTR |
R (cystic fibrosis) |
|
|
|
|
MLH1 |
G |
|
|
|
|
MSH2 |
G |
|
|
|
|
MSH6 |
G |
|
|
|
|
PMS2 |
G |
|
|
|
|
CHK2 |
G |
|
|
|
| ATM | G |
FDA, Food and Drug Administration; UDT-Seq, ultra-deep targeted sequencing. aS somatic mutations; G, germline cancer risk; P, pharmacogenetic risk; R, reproductive significance.