Biotheranostics Inc, San Diego, announced new data pertaining to its proprietary molecular diagnostic tests, CancerType ID and Breast Cancer Index, at the annual meeting of the American Society of Clinical Oncology (ASCO).1

In a longstanding diagnostic and treatment dilemma, 30% of patients with bone metastases do not receive a definitive diagnosis of tumor type due to poor tumor differentiation and degradation of tumor markers during specimen processing. In a study of more than 1,200 patients with unknown or uncertain types of cancer, CancerType ID demonstrated a solid analytical success rate in bone biopsies, with more than 40% of cases receiving a molecular tumor type diagnosis for which an FDA-approved indication for immune checkpoint inhibitors is available.

“The results of this analysis demonstrate that CancerType ID provides a foundation for a very promising diagnostic workflow for patients presenting with bone-predominant metastatic disease,” says Kanwal P. S. Raghav, MBBS, MD, study author and assistant professor of gastrointestinal medical oncology at the University of Texas MD Anderson Cancer Center. “Whereas, in the past, a large proportion of these patients would not have received a definitive diagnosis, now, with integration of the tissue-sparing 92-gene assay, the molecular diagnosis of tumor type allows for more appropriate tumor-specific therapy planning, downstream biomarker testing, as well as consideration of immunotherapy-enriched clinical trials for select patients.”

CancerType ID is a gene expression-based test focused on the classification of metastatic cancer and is intended to aid in diagnosis of the tumor type and subtype of cancers with diagnostic uncertainty, in conjunction with standard clinical and pathological assessment. Commercially launched in 2010, CancerType ID is a standardized, objective molecular test based on the differential expression of 92 genes that classifies tumors by matching the gene expression pattern of a tumor specimen to a database of known tumor types and histological subtypes. CancerType ID is able to classify 50 cancer types and subtypes, representing more than 95% of all solid tumors based on incidence.

Evaluation of the long-term risk of breast cancer recurrence is another clinical application for which a molecular diagnostic test enables individualization of therapy. The Breast Cancer Index identified nearly 30% of estrogen receptor-positive breast cancer patients with a 98% long-term breast cancer–specific survival out to 20 years, identifying patients who may be treated effectively with a 5-year course of antiestrogen therapy. For comparison, recent analysis of a genomic biomarker in the same Stockholm randomized controlled trial examining indolent biology revealed that only 15% of patients were classified as ‘ultralow risk,’ with a corresponding 20-year breast cancer–specific survival of 97%.


Catherine Schnabel, PhD, Biotheranostics.

In other studies, the company’s Breast Cancer Index significantly predicted pathological complete response to neoadjuvant chemotherapy among estrogen receptor-positive breast cancer patients, beyond traditional clinicopathologic factors, which was correlated with overall survival. The potential clinical utility of the Breast Cancer Index for predicting which patients are likely to respond to neoadjuvant chemotherapy, and which patients might consider alternative treatment strategies, such as neoadjuvant endocrine therapy, has been met with enthusiasm and warrants additional study. Additionally, an analysis was completed to further characterize the Breast Cancer Index and BCIN+, the algorithm optimized for lymph node-positive disease, for the prediction of late distant recurrence in postmenopausal women with hormone receptor positive breast cancer treated with tamoxifen or anastrozole.

“We continue to be excited with the ability of Breast Cancer Index to stratify hormone receptor-positive patients into clinically meaningful subsets for optimal treatment,” says Catherine Schnabel, PhD, chief scientific officer at Biotheranostics. “Aside from validated data to aid in decisionmaking for addition of chemotherapy and/or extended endocrine therapy, the biomarker has emerging activity in the neoadjuvant setting.”

To learn more, visit Biotheranostics.


  1. Spring L, Zhang Y, Treuner K, et al. Breast Cancer Index (BCI) and prediction of pathological complete response (pCR) to neoadjuvant chemotherapy in estrogen receptor positive (ER+) breast cancer [abstract]. Poster presented at the annual meeting of the American Society of Clinical Oncology, Chicago, June 1–5, 2018. Available at: Accessed July 2, 2018.