Tag Archives: gene

Novel mutations define two types of bone tumor: Two related genes underlie the development of two rare bone tumors in nearly 100 per cent of patients

These mutations are found in nearly 100 per cent of patients suffering from two rare bone tumours; chondroblastoma and giant cell tumour of the bone. Chondroblastoma and giant cell tumour of bone are benign bone tumours that primarily affect adolescents and young adults, respectively. They can be extremely debilitating tumours and recur despite surgery…

Data reaffirms test’s ability to identify benign thyroid nodules

This multi-site study co-led by Bryan R. Haugen, MD, professor of medicine and pathology at the University of Colorado School of Medicine provides the first long-term look at how these patients fared, and its findings reaffirm the performance of the Afirma Gene Expression Classifier (GEC). Haugen said "Each year, tens of thousands of patients with thyroid nodules have surgery to remove all or part of their thyroids…

New eye treatment effective in laboratory tests

The studies involved controlling the actions of microRNAs, tiny pieces of RNA that were once considered to be "junk" but are now known to fine-tune gene activation and expression. The researchers showed that treating mice with short RNA strands that precisely target and inhibit microRNAs ("antimicroRNAs") can stop the aberrant growth of blood vessels ("neovascularization"). It is this abnormal proliferation of vessels that exacerbates vision loss in neovascular eye diseases like "wet" macular degeneration and diabetic retinopathy, two of the leading causes of blindness. Described in the cover story of the November issue of the Journal of Clinical Investigation, the microRNA treatments blocked aberrant vessel growth without damaging existing vasculature or neurons in three separate models of neovascular eye disease — a proof-of-principle that suggests future treatment based on the same approach may be effective in humans…

Female hormones key to breast, ovarian cancer in BRCA gene carriers

The study, carried out by researchers at the UCL Department of Women’s Cancer, found that abnormal levels of female hormones in the bloodstream could be the answer. The findings have already led to more research into novel ways of preventing cancers in women at risk. According to the results of the study, women with BRCA1 or BRCA2 mutations are exposed to different levels of the female hormones oestradiol and progesterone, which are already known to be risk-factors for breast and ovarian cancer. …

Targeted investigational therapy potential to overcome crizotinib resistance in lung cancers

About 3 to 5 percent of lung cancers harbor ALK gene abnormalities. The drug crizotinib (Xalkori), which blocks ALK protein kinase activity, was approved in August 2011 by the U.S. Food and Drug Administration for the treatment of patients who have these lung cancers. Although robust responses to crizotinib are observed for lung cancers harboring ALK gene abnormalities, the majority eventually become resistant to the effects of the drug. …

‘Phenotype switching’ can make melanoma become metastatic, resistant to drugs

The findings were published in the journal Cancer Discovery and are currently available online. "We were able to demonstrate for the first time that different receptors within a single signaling pathway — in this case, the Wnt signaling pathway — can guide the phenotypic plasticity of tumor cells, and increased signaling of Wnt5A in particular can result in an increase in highly invasive tumor cells that are less sensitive to existing treatments for metastatic melanoma," said Ashani Weeraratna, Ph.D., assistant professor in the Tumor Microenvironment and Metastasis Program of Wistar’s NCI-designated Cancer Center, and senior corresponding author on the manuscript. …

Overexpressed protein to be culprit in certain thyroid cancers

The scientists found that over-activation of a certain protein in hormone-secreting cells helps fuel medullary thyroid cancer cells in mice as well as in human cells, making the protein a potentially good target for therapies to inhibit the growth of these cancer cells. The discovery by the multidisciplinary team at UT Southwestern has implications for neuroendocrine cancers that arise in organs farther removed from the brain, including the lung and the pancreas. Although rare, medullary thyroid cancer is often fatal. …

Database of disease genes shows potential drug therapies

The database was developed by identical twin brothers, Obi Griffith, PhD, and Malachi Griffith, PhD, whose interest in pairing drugs with genes is as much personal as it is scientific. Their mother died of breast cancer 17 years ago, just weeks before their high school graduation. "We wanted to create a comprehensive database that is user-friendly, something along the lines of a Google search engine for disease genes," explained Malachi Griffith, a research instructor in genetics. "As we move toward personalized medicine, there’s a lot of interest in knowing whether drugs can target mutated genes in particular patients or in certain diseases, like breast or lung cancer. …