CLIA-validated, ultra-sensitive blood test for the detection of PIK3CA, ESR1, AKT1, ERBB2, TP53, and KRAS. This panel detects as few as 6 mutant molecules in a background of 20,000 wild-type molecules (0.03% mutant allele frequency).
|GENE||GENE REGIONS COVERED (AMINO ACIDS)||CLINICAL RELEVANCE|
|AKT1||17-23||Investigational therapies targeting the PI3K/AKT1 pathway1|
|ERBB2||303-315, 754-769, 770-786||Emerging resistance mechanism for ESR1-directed therapies2|
|ESR1||370-381, 460-473, 529-538||Acquired after hormone therapy, putative predictive marker for novel ESR1-directed therapies3|
|KRAS||4-14||Emerging potential resistance mutation for hormone therapy4|
|PIK3CA||86-92, 111-117, 119-122, 345-352, 363-371, 418-421, 450-462, 538-553, 714-728, 1040-1056||Frequently mutated for ER+/HER2- BC, investigational therapies targeting the PIK/AKT1 pathway5|
|TP53||49-77, 99-125, 126-141, 151- 179, 192-219, 233-260, 262- 285, 297-306, 308-331, 332-360||Frequently mutated for ER+/HER2- BC, "truncal" mutation which can be used to determine presence/absence of detectable ctDNA in the blood6|
- Rudolph et al. 2016; Schiavon et al. 2015
- Nayar et al. 2018; Wang et al. 2017, Lee et al. 2006
- Fribbens et al. 2017; Spoerke et al. 2016; Schiavon et al. 2015
- Fribbens et al. 2017
- TGCA breast cancer project; Spoerke et al. 2016; Schiavon et al. 2015; Oshiro et al. 2015; Beaver et al. 2014; Dawson et al. 2013; Higgins et al. 2012
- The regions were selected based on mutation frequency of Breast Cancer samples in COSMIC and CBioPortal databases.