Medical publications

Prostate Cancer Blood Test

Schütz, E., et al. Chromosomal Instability in Cell-Free DNA Is a Serum Biomarker for Prostate Cancer. Clinical Chemistry 2015; 61: 239-248.

Tumor-specific cell free DNA (cfDNA) present in serum and plasma provides a real-time, easily accessible surrogate. We demonstrated variations in the number of cfDNA sequences circulating in the serum of patients with prostate cancer compared with healthy controls.

Rectal Cancer Treatment Outcome Predictions

Beck, J. et al. Comprehensive analyses of rectal cancer genomes to reveal copy number variations as potential predictor of induction therapy efficacy. J ClinOncol 32, 2014 (suppl; abstr e14549).

Genome profiling of individual tumors is provided by high-throughput sequencing and is about to enter routine clinical practice with impact on treatment decisions and tumor classification (NIH [2014] The Cancer Genome Atlas).

HPV Genotyping and Treatment Outcome Predictions

Urnovitz, HB et al. Detection of novel HPV mutations and chromosomal number imbalance (CNI) in laryngeal cancer using next-generation sequencing (NGS). J ClinOncol 32:5s, 2014 (suppl; abstr 6072).

The detection of novel HPV mutations and CNI analysis in a single NGS run on HPV-related diseases provides important information into viral-host dynamics while generating biomarkers that can be correlated with treatment outcomes.

Breast Cancer Liquid Biopsy Screening Test

Beck, J. et al. Cell-free DNA copy number variations as a marker for breast cancer in a large study cohort. J ClinOncol 31, 2013 (suppl; abstr 11013).

Using comparative massive parallel sequencing of cfDNA from cancer patients vs. controls, we were able to show that a 16-region model based on CNV, is useful to distinguish patients with breast cancer from matched controls.

Minimal Residual Disease in Breast Cancer

Urnovitz, HB et al. Modulation of breast cancer cell-free DNA with surgical resection. J ClinOncol 31, 2013 (suppl; abstr 11060).

In this study, we sought to determine whether cfDNA decreases after surgery in patients with operable invasive breast cancer. Serum was collected before and 1-4 weeks after surgery from 16 breast cancer patients and also from 24 age and gender matched controls.

NGS Animal Model for MRD in Breast Cancer

Beck, J. et al. Structural variation in mammary carcinomas and their detection in cell-free plasma DNA. PLOS One 2013 (10.1371/journal.pone.0075485).

Mammary tumors are the most frequent cancers in female dogs exhibiting a variety of histopathological differences. There is lack of knowledge about the genomes of these common dog tumors. Five tumors of three different histological subtypes were evaluated.