Tag Archives: genetics

Mutation discovery may improve treatment for rare brain tumor type

The discovery, reported in Nature Genetics, is encouraging, because it may be possible to attack the tumors with targeted drugs already in use for other kinds of tumors, said the investigators from Dana-Farber/Boston Children’s Cancer and Blood Disorders Center, Massachusetts General Hospital, and the Broad Institute of MIT and Harvard. The mutated gene, known as BRAF, was found in almost all samples of tumors called papillary craniopharyngiomas. This is one of two types of craniopharyngiomas — the other being adamantinomatous — that develop in the base of the brain near the pituitary gland, hypothalamus, and optic nerves. The papillary craniopharyngiomas occur mainly in adults; adamantinomatous tumors generally affect children. …

Changes in gene explain more of inherited risk for rare disease

The formation of multiple schwannomas is one sign that a person has the genetic disorder called schwannomatosis, which is one of the three major forms of neurofibromatosis, besides neurofibromatosis types 1 and 2. The condition is so named because the tumors originate in Schwann cells that form in sheaths that insulate nerves to cause severe, chronic pain in many patients. To date, physicians cannot give most patients a confirmed diagnosis for schwannomatosis, even if they show symptoms, because changes in genes linked to the condition by past studies explain only about 50 percent of familial and less than 10 percent of sporadic cases. …

Research backs risk-reduction surgery for ovarian cancer

The researchers from The University of Manchester — part of Manchester Cancer Research Centre — looked at 691 women who had undergone genetic testing and were confirmed as carrying a mutation in either the BRCA1 or BRCA2 gene before they had developed cancer. The study, funded by Genesis Breast Cancer Prevention, the UK’s only charity entirely dedicated to the prediction and prevention of breast cancer. The results were published recently in Breast Cancer Research and Treatment…

Newly discovered gene interaction could lead to novel cancer therapies

In the study, recently published in the online version of the journal Cancer Research, Fisher’s team found that forced expression of MDA-7/IL-24 (melanoma differentiation associated gene-7/interlukin-24) stimulates SARI (suppressor of AP-1, induced by interferon) expression in what is known as an autocrine/paracrine loop, which ultimately causes cancer cells to undergo a form of cell suicide known as apoptosis. Autocrine/paracrine loops occur when the expression of a particular gene or its encoded protein causes cells to secrete molecules that bind to surface receptors and force the expression of more of the same protein in an ongoing cycle…

Resistant against the flu

Whether it is H1N1, H5N1 or H7N9: The flu virus influenza A exists in many different types as its two coating proteins haemagglutinin (HA) and neuraminidase (NA) can be combined in various ways. Theoretically, more than 100 different pairings are possible. Additionally, the coating proteins themselves can undergo changes. This variability is one of the reasons why the flu vaccination has to be renewed every year…