Tag Archives: genetic

International study allows better prediction of risk of hereditary cancer

The study, published in Nature Genetics have carried out clinical and researchers who are part of the INSIGHT (International Society for Gastroeintestinal Hereditary Tumours ) . Coordinated by Maurizio Genuardi , University of Florence, and Finlay Macrae , Royal Melbourne Hospital , at work and have participated Capellá Marta Gabriel Pineda, Hereditary Cancer Program at the Catalan Institute of Oncology ( ICO- IDIBELL) . The research is funded by the Spanish Ministry of Science and Innovation and the Scientific Foundation of the Spanish Association Against Cancer . Hereditary cancer All cancers are caused by abnormalities in the genetic material of cells , that make them lose their function and become malignant …

Most common gene mutation in human pigmentation in Mediterranean countries linked to increased skin cancer

This mutation, called "V60L," is at present the most common among people from Mediterranean regions such as Spain, Portugal, Italy and Israel. It is present in about 10-20% of the population, according to the study carried out by researchers at the Universitat Jaume I and the University of the Basque Country performed on over 1,000 individuals from different areas of Spain. …

Study questions anti-cancer mechanisms of drug tested in clinical trials

But new research appearing the week of Jan. 13 in Proceedings of the National Academy of Sciences (PNAS) suggests that activation of AMPK may actually fuel cancer growth. Researchers from Cincinnati Children’s Hospital Medical Center who led the study also recommend that clinicians testing metformin for cancer treatment consider a careful re-evaluation of their clinical data. The researchers report on extensive laboratory tests that conclude metformin does stop cancer, although not by activating AMPK…

Multiple myeloma study uncovers genetic diversity within tumors

"What this new work shows us is that when we treat an individual patient with multiple myeloma, it’s possible that we’re not just looking at one disease, but at many — in the same person, there could be cancer cells with different genetic make-ups," said co-senior author Todd Golub, the Broad Institute’s Chief Scientific Officer and Charles A. Dana Investigator in Human Cancer Genetics at the Dana-Farber Cancer Institute. Golub is also a professor at Harvard Medical School and an investigator at Howard Hughes Medical Institute. …

Immune system development linked to leukaemia: Defences against infection can be weaknesses in causing cancer

Scientists have discovered a genetic signature that implicates a key mechanism in the immune system as a driving force for a type of childhood leukemia. Acute lymphoblastic leukemia or ALL is the most common form of childhood leukemia. A key factor driving this leukemia for one in four ALL patients is a mutation that causes two of their genes, ETV6 and RUNX1, to fuse together. This genomic alteration happens before birth and kick starts the disease. …

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. …

Epigenetics enigma resolved

The finding is important for the field of epigenetics because Tet enzymes chemically modify DNA, changing signposts that tell the cell’s machinery "this gene is shut off" into other signs that say "ready for a change." Tet enzymes’ roles have come to light only in the last five years; they are needed for stem cells to maintain their multipotent state, and are involved in early embryonic and brain development and in cancer. The results, which could help scientists understand how Tet enzymes are regulated and look for drugs that manipulate them, were published online on Dec. …

DNA clamp to grab cancer before it develops

Toward a new generation of screening tests An increasing number of genetic mutations have been identified as risk factors for the development of cancer and many other diseases. Several research groups have attempted to develop rapid and inexpensive screening methods for detecting these mutations. "The results of our study have considerable implications in the area of diagnostics and therapeutics," says Professor Francesco Ricci, "because the DNA clamp can be adapted to provide a fluorescent signal in the presence of DNA sequences having mutations with high risk for certain types cancer. …

Study finds known lung cancer oncogenes also drive colorectal cancer

"When you have known oncogenes that are already targeted by FDA-approved drugs, it just made sense to look for these oncogenes in other cancers," says Marileila Varella Garcia, PhD, investigator at the CU Cancer Center and professor at the CU School of Medicine. "By rethinking the way we understand cancers — as their genetic mutations and not just as the sites where they live in the body — we see that a therapy that targets a specific mutation may show benefit in treating any other cancer that shares the same mutation," says Dara Aisner, MD, PhD, investigator at the CU Cancer Center and molecular pathologist at the CU School of Medicine…