Tag Archives: genetics

Massive non-Hodgkin lymphoma study underway

This has now resulted in the largest epidemiology and genetic studies of non-Hodgkin lymphoma (NHL) ever conducted. Thus far, these studies have culminated into four genetics papers published in Nature Genetics, American Journal of Human Genetics and Nature Communications, and an entire monograph in the Journal of the National Cancer Institute Monographs comprising 13 papers on environmental and medical risk factors found to be associated with various lymphoma subtypes. …

Different brain tumors have the same origin, new findings show

The most common primary, malignant brain tumors in adults, called glioma, are formed from cells in the brain that are not nerve cells. These are serious tumors that lack efficient treatment and relapses are common. There are different types of glioma, classified according to an established system based on which cell type the tumor arises from. The most common gliomas are astrocytoma, which have their name from astrocytes, and oligodendroglioma, which are believed to arise from oligodendrocytes. …

Unsuspected gene found frequently mutated in colorectal, endometrial cancers

Reporting in the October 26, 2014 edition of Nature Genetics, investigators from Dana-Farber Cancer Institute and the Broad Institute of MIT and Harvard said the mutated gene helps control an important cell-signaling pathway, Wnt, that has been implicated in many forms of cancer. They suggest that the RNF43 mutation may serve as a biomarker that identifies patients with colorectal and endometrial cancer who could benefit from precision cancer drugs that target the Wnt pathway, although no such drugs are currently available. “Tumors that have this mutation may be telling us that they are dependent on the Wnt signaling pathway, and they will be uniquely sensitive to drugs that inhibit this pathway,” said Charles Fuchs, MD, MPH, an author of the paper and director of the Center for Gastrointestinal Cancer at Dana-Farber. He is also affiliated with Brigham and Women’s Hospital and the Harvard School of Public Health…

Potential link between breast cancer genes, salivary gland cancer

Although salivary gland cancer is rare, this retrospective study suggests it occurs 17 times more often in people with inherited mutations in genes called BRCA1 and BRCA2, than those in the general population. “Further study is needed to confirm this preliminary result, but I believe that a BRCA-positive patient with a lump in a salivary gland should have that lesion evaluated as soon as possible,” says co-author Theodoros Teknos, MD, professor and chair of otolaryngology, director of head and neck oncologic surgery, and the David E. Schuller, MD, and Carole H. Schuller Chair in Otolaryngology at the OSUCCC — James. …

Live and let-7: microRNA plays surprising role in cell survival

Specifically, principal investigator Albert R. La Spada, MD, PhD, professor of cellular and molecular medicine, chief of the Division of Genetics in the Department of Pediatrics and associate director of the Institute for Genomic Medicine at UC San Diego, and colleagues found that a microRNA known as let-7 controls autophagy through the amino acid sensing pathway, which has emerged as the most potent activator of mTORC1 complex activity. Autophagy is a fundamental process used by cells to degrade unnecessary components in times of starvation, releasing energy stores that help promote cell survival…

Dog’s epigenome gives clues to human cancer

Unlike other mammals used in research, dogs develop cancer spontaneously as humans do and cancer is the most common cause of death in this species. The dog genome has been obtained in recent years, but we still don’t know how is controlled and regulated, what we call the epigenome. This week the team led by Manel Esteller, director of the Program for Epigenetics and Cancer Biology (PEBC) at Bellvitge Biomedical Research Institute (IDIBELL), Professor of Genetics at the University of Barcelona and ICREA researcher, has characterized the dog’s epigenome and transferred the results to human cancer to understand the changes in appearance of tumors. The finding is published this week in the journal Cancer Research. …

New gene research helps pinpoint prostate cancer risk

QUT Institute of Health and Biomedical Innovation’s Dr Jyotsna Batra and Distinguished Professor Judith Clements, who led the Australian researchers in the large consortia of research hubs around the world, said the teams analysed more than 10 million genetic markers in 80,000 men. “It’s the largest analysis of genetic biomarkers ever done. We found another 23 new prostate cancer risk loci (sites) on the genome in addition to the 76 identified previously,” Dr Batra said. …

Ultraviolet light-induced mutation drives many skin cancers, researchers find

The mutation occurs in a gene called KNSTRN, which is involved in helping cells divide their DNA equally during cell division. Genes that cause cancer when mutated are known as oncogenes. Although KNSTRN hasn’t been previously implicated as a cause of human cancers, the research suggests it may be one of the most commonly mutated oncogenes in the world. “This previously unknown oncogene is activated by sunlight and drives the development of cutaneous squamous cell carcinomas,” said Paul Khavari, MD, PhD, the Carl J…

Statistical Approach for Calculating Environmental Influences in Genome-Wide Association Study (GWAS) Results

The approach fills a gap in current analyses. Complex diseases like cancer usually arise from complex interactions among genetic and environmental factors. When many such combinations are studied, identifying the relevant interactions versus those that reflect chance combinations among affected individuals becomes difficult. In this study, the investigators developed a novel approach for evaluating the relevance of interactions using a Bayesian hierarchal mixture framework…