Liquid Biopsies

A series of papers have been published in the journal Nature in which researchers conducted detailed comparisons of the worm, fly, and human genomes using data from the ENCODE and modENCODE projects.

A study using next-generation sequencing showed that genetic testing limited to BRCA1/2 mutations would have missed 29% of mutations that carry hereditary risk of ovarian cancer.

Urinary cell-free DNA analysis had near-100% accuracy for detecting BRAF mutations associated with histiocytic disease, according to a small clinical study reported at the 2014 ASCO Annual Meeting in Chicago.

Mutational analysis is emerging as a powerful tool in oncology; from the identification and validation of a tumor-specific genetic lesion, to the development of therapeutic agents, to the subsequent, longitudinal assessment of acquired mutations.

The FDA has approved the radioactive diagnostic imaging agent Lymphoseek injection to guide sentinel lymph node biopsy in patients with cancer of the head and neck.

The FDA’s Molecular and Clinical Genetics advisory committee has unanimously supported the safety, efficacy, and positive risk-benefit profile of the noninvasive stool-based DNA test Cologuard in a 10-0 vote.

Screening for prostate-specific antigen (PSA) significantly cuts the death rate from prostate cancer, but at the same time, America’s medical community should work harder to avoid the screen’s potential pitfalls.

Although the use of CTCs as a “liquid biopsy” to detect tumor growth has long been a goal, developing the technology for detecting and analyzing CTCs has been a challenge.

A new study suggests that even tumor cells with a common genetic background can display functional heterogeneity.