Mutation News and Research

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Study reveals new activation mechanism for protein kinases

Protein kinases, most scientists would agree, regulate nearly every aspect of cell life. It is no surprise, then, that having faulty protein kinases may lead to a number of human conditions, including cardiovascular diseases, cancer and diabetes.

11 Apr 2016

Simple blood test rapidly detects key genetic mutations in non-small cell lung tumors

A simple blood test can rapidly and accurately detect mutations in two key genes in non-small cell lung tumors, researchers at Dana-Farber Cancer Institute and other institutions report in a new study - demonstrating the test's potential as a clinical tool for identifying patients who can benefit from drugs targeting those mutations.

11 Apr 2016

Rockefeller scientists study molecular mechanism that causes linker cell death in worms

Some cells are meant to live, and some are meant to die. The linker cell of Caenorhabditis elegans, a tiny worm that is a favored model organism for biologists, is among those destined for termination.

11 Apr 2016

AstraZeneca, MedImmune to present new clinical trial and scientific data on lung cancer treatments at ELCC 2016

AstraZeneca and its global biologics research and development arm, MedImmune, will report new clinical trial and scientific data from their industry-leading lung cancer franchise of marketed and pipeline medicines at the European Lung Cancer Conference in Geneva, Switzerland, 13 -16 April 2016.

11 Apr 2016

Baker’s yeast could help in finding disease-causing mutations

It's easier than ever to sequence our DNA, but doctors still can't exactly tell from our genomes which diseases might befall us. Professor Fritz Roth is setting out to change this by going to basics -- to our billion-year-old cousin, baker's yeast.

7 Apr 2016

Metabolic pathway activates cell signaling protein to promote breast cancer metastasis

A metabolic pathway that is up-regulated in certain breast cancers promotes the disease's progression by activating a cell signaling protein called Arf6, according to a paper published in the Journal of Cell Biology.

7 Apr 2016

Pediatric researchers uncover new syndrome that causes intellectual disability

Pediatric researchers, using high-speed DNA sequencing tools, have identified a new syndrome that causes intellectual disability (ID). Drawing on knowledge of the causative gene mutation, the scientists' cell studies suggest that an amino acid supplement may offer a targeted treatment for children with this condition.

5 Apr 2016

Aged tumor cells in melanoma behave in a different way than younger tumor cells

Cancer risk increases with one's age as accumulated damage to our cells and chronic inflammation occur over time. Now, an international team of scientists led by The Wistar Institute have shown that aged tumor cells in melanoma behave differently than younger tumor cells, according to study results published in the journal Nature.

5 Apr 2016

New CWRU study identifies three glycosyltransferases as major mutational targets in colorectal cancer

Little is known about the molecular basis of aberrant protein glycosylation, a complex enzymatic process that is a hallmark of many human cancers including colorectal cancers (CRC), and how it may contribute to tumor progression. In a new study published in Scientific Reports, an online journal of the Nature Publishing Group, scientists at Case Western Reserve University School of Medicine have successfully characterized the mutational landscapes of glycosylation-associated genes in colon cancer, identifying three glycosyltransferases as significant mutational targets in CRC.

4 Apr 2016

Study demonstrates rarity of familial hypercholesterolemia mutations in individuals with high cholesterol

Only a small fraction of people with very high cholesterol can attribute their condition to a genetic mutation related to familial hypercholesterolemia, but individuals with these mutations face a high risk of developing early-onset coronary artery disease, according to research presented at the American College of Cardiology's 65th Annual Scientific Session.

4 Apr 2016

Study may help identify unborn children at higher risk for birth defects

Researchers at the University of Toronto have discovered a novel function performed by the breast cancer 1 protein (BRCA1), which regulates DNA repair. Well known for the role it plays in breast and ovarian cancer, this study revealed that the BRCA1 protein actually plays a much broader biological role, particularly in protecting the developing embryo from the damaging effects of reactive oxygen species (ROS).

1 Apr 2016

Penn researchers discover molecular mechanism that underlies common cerebrovascular disease

Cerebral cavernous malformations (CCMs) are clusters of dilated, thin-walled blood vessels in the brain that can cause stroke and seizures, yet exactly how they form is somewhat of a mystery. Now, a team from the Perelman School of Medicine at the University of Pennsylvania has discovered the molecular mechanism that underlies this common cerebrovascular disease. They published their results this week online ahead of print in Nature.

31 Mar 2016

Scientists develop mouse model to gain new insights into genetic mechanisms underlying AML

A novel mouse model of a highly lethal form of acute myeloid leukemia (AML) offers a new tool for scientists working to better understand this disease and research new therapeutic targets.

31 Mar 2016

New Rutgers study links protein that helps fight infection to heart and liver disease

A protein that should help fight infection and keep us healthy may be targeted for treating devastating illnesses like heart and liver disease, according to a new Rutgers study.

31 Mar 2016

Qlucore’s Omics Explorer enables researchers to study genetic influences behind Li-Fraumeni Syndrome

While childhood cancer is rare (adult malignancies after 20 years are 20-30 times more common in general) it remains a major cause of death by disease in children. 15,700 children are diagnosed with cancer each year in the USA.

31 Mar 2016

NHS England to provide crucial funding for Janssen's HIV treatment, REZOLSTA

Janssen-Cilag Ltd today announced that NHS England will provide crucial funding for its once-daily, fixed-dose combination of darunavir and the pharmacoenhancer, cobicistat, called REZOLSTA.

31 Mar 2016

Myriad myRisk Hereditary Cancer test identifies 70% more deleterious mutations than BRCA1/2 testing alone

Myriad Genetics, Inc., a leader in molecular diagnostics and personalized medicine, working in collaboration with researchers from the Harvard Medical School, today announced that the Journal of Clinical Oncology has published a paper showing the frequency of germline mutations in 25 cancer susceptibility genes among patients with breast cancer.

31 Mar 2016

MedUni Vienna researchers develop new treatment for pre-stages of cervical cancer

Researchers at the Comprehensive Cancer Center of MedUni Vienna and Vienna General Hospital have developed a new treatment for the pre-stages of cervical cancer, caused by human papilloma virus (HPV) infection.

30 Mar 2016

New tool interprets whole-exome tumor sequencing data for better cancer therapies

A University of Colorado Cancer study published today in the Journal of the American Medical Informatics Association describes a new tool that interprets the raw data of whole exome tumor sequencing and then matches the cancer's unique genetics to FDA-approved targeted treatments.

30 Mar 2016

Multiple combination therapies could prevent malaria resistance

In order to preserve first-line drugs for treating malaria, multiple combination therapies should be deployed within a population to prevent resistance from developing, according to Maciej Boni from the Centre for Tropical Medicine and Global Health, University of Oxford, UK, and colleagues in a Policy Forum article published in this week's PLOS Medicine.

30 Mar 2016

Mutation News and Research

Study reveals new activation mechanism for protein kinases

Simple blood test rapidly detects key genetic mutations in non-small cell lung tumors

Rockefeller scientists study molecular mechanism that causes linker cell death in worms

AstraZeneca, MedImmune to present new clinical trial and scientific data on lung cancer treatments at ELCC 2016

Baker’s yeast could help in finding disease-causing mutations

Metabolic pathway activates cell signaling protein to promote breast cancer metastasis

Pediatric researchers uncover new syndrome that causes intellectual disability

Aged tumor cells in melanoma behave in a different way than younger tumor cells

New CWRU study identifies three glycosyltransferases as major mutational targets in colorectal cancer

Study demonstrates rarity of familial hypercholesterolemia mutations in individuals with high cholesterol

Study may help identify unborn children at higher risk for birth defects

Penn researchers discover molecular mechanism that underlies common cerebrovascular disease

Scientists develop mouse model to gain new insights into genetic mechanisms underlying AML

New Rutgers study links protein that helps fight infection to heart and liver disease

Qlucore’s Omics Explorer enables researchers to study genetic influences behind Li-Fraumeni Syndrome

NHS England to provide crucial funding for Janssen's HIV treatment, REZOLSTA

Myriad myRisk Hereditary Cancer test identifies 70% more deleterious mutations than BRCA1/2 testing alone

MedUni Vienna researchers develop new treatment for pre-stages of cervical cancer

New tool interprets whole-exome tumor sequencing data for better cancer therapies

Multiple combination therapies could prevent malaria resistance

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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