Genomics meets gene tectonics in a pancreatic cancer study that describes large-scale genomic rearrangements that can be likened to geological events. In pancreatic cancer, large slabs of DNA can slide from one genomic region to another, changing the genomic landscape. While DNA fault lines and ridges have been exposed by…

Since the first in vitro fertilization (IVF) birth in 1978 more than 5 million babies have been born using this method. In order to alleviate added stress for couples already experiencing difficulties to conceive, fertility scientists utilize pre-implantation genetic diagnosis (PGD) techniques to detect large chromosomal abnormalities or gene mutations…

In October, the South Carolina-based Greenwood Genetic Center (GGC) launched a whole exome sequencing (WES) program. The technique, carried out via next-generation sequencing, is particularly appropriate for patients who need additional genetic testing, e.g., chromosome analysis and single gene sequencing, beyond traditional approaches. Bioinformatics specialists analyze the results to help…

Whether they are concerned with a mutation of a single gene, or mutations in a combination of two or more genes, today’s oncologists look forward to using genomic information to more precisely target and treat cancer. But as more and more researchers delve into the work of discovering which genetic…

A study, funded by the Movember Foundation and conducted by scientists at The Institute of Cancer Research (ICR) in London, has revealed several genetic mutations that may trigger the development of testicular cancer, in addition to uncovering a gene that may aid tumors in promoting resistance to existing drug therapies.…

Scientists at Geneseeq Technology share how to improve target capture for accurate clinical diagnostics by using optimized blocking oligonucleotides and stringent hybridization conditions. The diverse array of mutations contributing to cancer complicates the selection of effective treatment regimens. There are only several hundred genes that can be targeted for cancer…

If the tenor of the overflow crowd at November’s Association for Molecular Pathology (AMP) Annual Conference to hear FDA’s Alberto Gutierrez, Ph.D., is any indication, the agency’s move to tightly regulate laboratory developed tests (LDTs) faces an uphill battle to win over those who run the thousands of molecular pathology…

Clinical laboratories will be watching and waiting in the new year for the Centers for Medicare and Medicaid Services (CMS) to resolve several unsettled issues concerning fees for molecular pathology tests, as well as coding for drug-screening tests. CMS approved 21 new codes for advanced genomic studies such as exome…

Noninvasive molecular diagnostics based on cell-free DNA analysis are advancing as more methods have been developed to detect and quantitate nucleic acids from blood and urine. Recent studies suggest that genomic alterations in solid cancers can be characterized by massively parallel sequencing of circulating cell-free tumor DNA released from cancer…

The application of genomics in cancer has led to an improved understanding of the disease. To date, 125 driver genes have been discovered—71 tumor suppressors and 54 oncogenes—that promote tumor growth through 12 cellular signaling pathways.1 These pathways have become the focus of small molecule inhibitor drugs, primarily targeting kinases.…

Precision cancer therapy firm Perthera is partnering with the Robert H. Lurie Comprehensive Cancer Center of Northwestern University and the Northwestern Medicine Developmental Therapeutics Institute (NMDTI) to conduct a translational research program aimed at assessing the utility of integrating next-generation sequencing, proteomic, and phospho-proteomic data in oncology developmental therapeutics and…

As one of the most prevalent causes of death across the globe, the burden of cancer is still sharply increasing, predominantly due to the aging population. As such, the current focus of many researchers is on how to accurately diagnose and treat various cancer types. However, human cancers usually carry…

Illumina formed collaborative partnerships with AstraZeneca, Janssen Biotech, and Sanofi to develop a universal next-generation sequencing (NGS)-based oncology test system. It will be used for clinical trials of targeted cancer therapies with a goal of developing and commercializing a multi-gene panel for therapeutic selection, resulting in a more comprehensive tool…

Next-generation sequencing (NGS) not only continues to make steady advances in the molecular diagnosis of cancers, it also seems to fit perfectly with our current knowledge of the oncogenome. In particular, by making it possible to screen the entire coding sequence of cancer-related genes, NGS overcomes a key problem—cancer predisposition…

Exact Sciences has won FDA approval for the first noninvasive DNA screening test for colorectal cancer—the first stool-based diagnostic designed to indicate the presence of abnormal growths in red blood cells and DNA mutations, and the first test to be approved under a joint parallel review pilot program by the…