Tag Archives: disease

Triple-negative breast cancer patients should undergo genetic screening

“Clinicians need to think hard about screening all their triple-negative patients for mutations because there is a lot of value in learning that information, both in terms of the risk of recurrence to the individual and the risk to family members. In addition, there may be very specific therapeutic benefits of knowing if you have a mutation in a particular gene,” says Fergus Couch, Ph.D., professor of laboratory medicine and pathology at Mayo Clinic and lead author of the study. The study found that almost 15 percent of triple-negative breast cancer patients had deleterious (harmful) mutations in predisposition genes. The vast majority of these mutations appeared in genes involved in the repair of DNA damage, suggesting that the origins of triple-negative breast cancer may be different from other forms of the disease. …

Gene discovered that reduces risk of stroke

Researchers from Royal Holloway, University of London, together with an international team from across the United States and Europe, have found that people with a specific variant of a gene, known as PHACTR1, are at reduced risk of suffering cervical artery dissection, which is caused by a tear in an artery that leads to the brain. The new discovery, published in the journal Nature Genetics, could lead to new treatments and prevention strategies for the disease, which is a major cause of stroke in young adults. The same gene variant has also been identified as a protector against migraines and affects the risk of heart attack. Professor Pankaj Sharma, from the School of Biological Sciences at Royal Holloway, said: “This is an important breakthrough…

Galeterone shows activity in a variant form of castration-resistant prostate cancer — ScienceDaily

Associate professor Mary-Ellen Taplin, of the Dana-Farber Cancer Institute, Boston, USA, will tell the 26th EORTC-NCI-AACR Symposium on Molecular Targets and Cancer Therapeutics in Barcelona, Spain,�that galeterone was well tolerated by patients in the ARMOR2 trial, and also lowered PSA levels in a subset of men with CRPC that was resistant to other drugs that target the cancer, such as enzalutamide and abiraterone. “Recent data have shown that a variant of the androgen receptor called AR-V7, found in tumour cells circulating in the blood of patients with metastatic CRPC, predicted resistance to treatment with enzalutamide and abiraterone,” she will say. “Indeed, we believe AR-V7 and other, related variants are a mechanism of resistance in this disease and patients who have them may have a poorer prognosis.” Researchers believed that galeterone could be effective against CRPC because it disrupts the androgen receptor signalling pathways that are involved in the cancer, and preclinical work has shown it is active against the AR-V7 variant…

New insights into breast cancer spread could yield better tests and treatments — ScienceDaily

According to the National Cancer Institute, more than 232,000 American women developed breast cancer last year and nearly 40,000 women died from the disease. It is the most common cancer among women in the United States. Most breast cancer deaths occur because the cancer has spread, or metastasized, which means that cells in the primary tumor have invaded blood vessels and traveled via the bloodstream to form tumors elsewhere in the body…

Genetic testing could improve breast cancer prevention — ScienceDaily

Their study showed that prevention strategies could be improved by testing not only as currently for major cancer predisposition genes such as BRCA1 and BRCA2 — which identify a small percentage of women at very high risk — but also by factoring in data on multiple gene variants that individually have only a small effect on risk, but are more common in the population. The research was carried out by researchers at The Institute of Cancer Research, London, and the National Cancer Institute in Bethesda, US — and is published in the Journal of the National Cancer Institute. The study received funding from The Institute of Cancer Research (ICR), Breakthrough Breast Cancer and the National Cancer Institute. Researchers stressed that their study was a computer modelling analysis and would need to be confirmed by further research aimed at validating the models they used and assessing real-life prevention approaches…

Establishment of induced pluripotent stem cells from Werner syndrome fibroblasts

Werner syndrome is characterized by the premature appearance of features associated with normal aging and cancer predisposition. This syndrome occurs frequently in Japan, affecting 1 in 20,000 to 1 in 40,000 people. The therapeutic methods for this disease are very limited and it is expected that iPS cells can be used for the development of innovative therapies…

Chlamydia knock out body’s own cancer defense

Hundreds of mutations occur every day in almost every cell in our body. The protein p53 is then activated in order to limit these changes in the genome: either the cell repairs the damaged DNA or, if that is not possible, it triggers the cellular suicide program. In this way, cells are normally protected against the development of cancer. As the Berlin-based team at the Max Planck Institute for Infection Biology reported last year, chlamydial infections lead to a drastic increase in the mutation rate. …

Scientists find way to reduce ovarian cancer tumors, chemo doses

Their research appears in The FASEB Journal. “We hope that this study will lead to novel treatment approaches for women diagnosed with late-stage ovarian cancer,” said Jim Petrik, a Guelph biomedical sciences professor. He worked on the study with Guelph graduate student Samantha Russell and cancer researchers from Harvard Medical School…

Scientists uncover vast numbers of DNA ‘blind spots’ that may hide cancer-causing mistakes

The researchers found hidden faults in areas that are tricky for gene-reading technology to decode. This technique, which unravels cancer’s genetic blueprint, is an important part of the research that scientists carry out to understand more about cancer’s biology. By finding new ways to unlock these blind spots in the future, the researchers hope this will help us understand these mistakes and whether they lead to cancer. This could be a step towards developing tests to spot cancers earlier or provide new tactics for discovering future cancer treatments…