Skip to content

Reliable detection of clinically relevant mutations in breast cancer

BC-SEQ detects mutations in established and emerging predictive markers, resistance mutations, and frequently occurring genetic alterations in breast cancer. BC-SEQ can track breast cancer biomarkers with maximum efficiency, so you don’t miss patients who may be eligible for a clinical trial, benefit from more targeted or aggressive therapy, or be a candidate for a novel therapeutic.

Panel features

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).

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


  1. Rudolph et al. 2016; Schiavon et al. 2015
  2. Nayar et al. 2018; Wang et al. 2017, Lee et al. 2006
  3. Fribbens et al. 2017; Spoerke et al. 2016; Schiavon et al. 2015
  4. Fribbens et al. 2017
  5. 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
  6. The regions were selected based on mutation frequency of Breast Cancer samples in COSMIC and CBioPortal databases.

We’d love to hear from you!