Tag Archives: genetic

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…

Finding keys to glioblastoma therapeutic resistance

“There is a growing interest to guide cancer therapy by sequencing the DNA of the cancer cell,” said Clark Chen, MD, PhD, vice-chairman of Research and Academic Development, UC San Diego Division of Neurosurgery and the principal investigator of the study. “Our study demonstrates that the sensitivity of glioblastoma to a drug is influenced not only by the content of its DNA sequences, but also by how the DNA sequences are organized and interpreted by the cell.” The team of scientists, led by Chen, used a method called comparative gene signature analysis to study the genetic profiles of tumor specimens collected from approximately 900 glioblastoma patients. …

Scientists learn more about rare skin cancer that killed Bob Marley

Cancer Research UK scientists have discovered that acral melanomas — the rare type of skin cancer that caused reggae musician Bob Marley’s death — are genetically distinct from other more common types of skin cancer, according to a study published in the journal Pigment Cell & Melanoma Research. Acral melanoma most often affects the palms of the hands, soles of the feet, nail-beds and other hairless parts of the skin. Unlike other more common types of melanoma, it’s not caused by UV damage from the sun. The team, from the Cancer Research UK Manchester Institute at The University of Manchester, sequenced the tumours of five patients with acral melanoma and combined this with data from three other patients. …

Study shines new light on genetic alterations of aggressive breast cancer subtype

The study, led by Dr. Xiaosong Wang, assistant professor of medicine — hematology and oncology and of molecular and cellular biology at Baylor, published today in Nature Communications and focused on the more aggressive molecular subtype of the estrogen-receptor positive breast cancer known as luminal B breast cancer. “While expressing the estrogen receptor, the luminal B breast cancers usually have higher tumor grade, larger tumor size, and poor prognosis, with most cases difficult to treat by endocrine therapy,” said Wang, the lead and corresponding author on the report. “We wanted to gain a deeper understanding about the genetic alterations underlying this particular form of breast cancer, because we do not know about what malfunctions potentially cause this form to be more aggressive.” In the study, Wang and colleagues identified a particular gene fusion on the estrogen receptor itself (hybrid gene formed from two previously separate genes) that was preferentially present in a subset of samples of tumors that were luminal B and ER-positive. …

Gene increases risk of breast cancer to one in three by age 70 — ScienceDaily

In a study run through the international PALB2 Interest Group a team of researchers from 17 centres in eight countries led by the University of Cambridge analysed data from 154 families without BRCA1 or BRCA2 mutations, which included 362 family members with PALB2 gene mutations. The effort was funded by the European Research Council, Cancer Research UK and multiple other international sources. Women who carried rare mutations in PALB2 were found to have on average a 35% chance of developing breast cancer by the age of seventy. However, the risks were highly dependent on family history of breast cancer where carriers with more relatives affected by breast cancer, were at higher risk. …

Trapped: Cell-invading piece of virus captured in lab by scientists

This achievement sets the stage to use x-ray crystallography to develop complete images of HIV that include integrase, which in turn will help scientists develop new treatments for the illness. Duane Grandgenett, Ph.D., professor at SLU’s Institute of Molecular Virology and senior author of the study, discovered integrase in 1978, little knowing the piece of virus would provide the basis for an entire class of drugs that now treats HIV…