Genetic copy-number variants and cancer risk
2012-08-02
(Press-News.org) Genetics clearly plays a role in cancer development and progression, but the reason that a certain mutation leads to one cancer and not another is less clear. Furthermore, no links have been found between any cancer and a type of genetic change called "copy-number variants," or CNVs. Now, a new study published by Cell Press in The American Journal of Human Genetics on August 2 identifies CNVs associated with testicular cancer risk, but not with the risk of breast or colon cancer.
Some cancers, including breast and colon cancer, are caused by mutations that are passed from one generation to the next. However, most cancers, including testicular cancer, are sporadic—they arise without a family history of cancer. Many of these sporadic cancers result from genetic mutations in germ cells—the cells involved in reproduction—even though neither parent has the mutation. Scientists call these "de novo" mutations.
In order to identify rare de novo mutations associated with cancer risk, Dr. Kenneth Offit and colleagues searched for CNVs, which are duplications or deletions of one or more sections of DNA, in cancer patients and their cancer-free relatives. They found a significant increase in the number of rare de novo CNVs in individuals with testicular cancer as opposed to breast or colon cancer. Although such CNVs have been associated with autism and other neurocognitive and cardiovascular disorders, they were not previously known to be associated with cancer.
The authors propose that de novo changes (as opposed to those inherited from parents) might be indicative of conditions that have traditionally resulted in reduced fertility. Although modern treatment regimens allow more than 90% of men with testicular cancer to live long and reproductive lives, the condition traditionally left affected men childless. "We speculate that the paradigm of a de novo germline disease etiology may be less applicable to late-onset cancers," says Offit, "in part explaining the lower frequency of de novo events we found in adult-onset breast and colon cancer cases." Pinpointing the specific genetic changes that lead to cancer development will improve the understanding of the origins of cancer, leading to new treatment strategies and ultimately easing the burden on those afflicted with these diseases.
INFORMATION:Stadler et al.: "Rare De Novo Germline Copy-Number Variation in Testicular Cancer."
ABOUT THE AMERICAN JOURNAL OF HUMAN GENETICS
The American Journal of Human Genetics (AJHG) is ASHG's official scientific journal, published by Cell Press. AJHG is the most highly regarded peer-reviewed journal dedicated to studies in human genetics and earned an impact factor of 11.680 in 2011. AJHG provides cutting-edge research and review articles related to genetics and genomics and the application of genetic principles in health, disease, medicine, population studies, evolution, and societal impacts. For more information about AJHG, visit: http://www.ajhg.org.
ABOUT THE AMERICAN SOCIETY OF HUMAN GENETICS
Founded in 1948, the American Society of Human Genetics (ASHG) is the leading professional membership organization for specialists in human genetics worldwide. The nearly 8,000 members of ASHG include researchers, academicians, clinicians, laboratory-practice professionals, genetic counselors, nurses, and others with a special interest in the field of human genetics. The Society's mission is to serve research scientists, health professionals, and the public by providing forums to (1) share research results through the ASHG Annual Meeting and in The American Journal of Human Genetics (AJHG); (2) advance genetic research by advocating for research support; (3) educate current and future genetics professionals, health care providers, advocates, policymakers, educators, students, and the public about all aspects of human genetics; and (4) promote genetic services and support responsible social and scientific policies. For more information about ASHG, visit: http://www.ashg.org.
ELSE PRESS RELEASES FROM THIS DATE:
2012-08-02
Scientists are beginning to understand one of life's enduring mysteries - why women live, on average, longer than men.
Published today in Current Biology, research led by Monash University, describes how mutations to the DNA of the mitochondria can account for differences in the life expectancy of males and females. Mitochondria, which exist in almost all animal cells, are vital for life because they convert our food into the energy that powers the body.
Dr Damian Dowling and PhD student, Florencia Camus, both from the Monash School of Biological Sciences, worked with ...
2012-08-02
The composition of microbes in the gut changes dramatically during pregnancy, according to a study published by Cell Press in the August 3rd issue of the journal Cell. Although these changes are associated with metabolic disease under most circumstances, they could be beneficial in pregnant women.
"This is the first in-depth characterization of the gut microbiota associated with pregnancy," says senior study author Ruth Ley of Cornell University. "The findings suggest that our bodies have coevolved with the microbiota and may actually be using them as a tool—to help alter ...
2012-08-02
JUPITER, FL – August 2, 2012 – Scientists from the Florida campus of The Scripps Research Institute have identified a protein that impairs the development and maintenance of lymphoma (cancer of the lymph nodes), but is repressed during the initial stages of the disease, allowing for rapid tumor growth.
While the study, published in the August 3, 2012 edition of the journal Cell, largely focuses on the role of this new tumor suppressor in lymphoma induced by Myc oncoproteins (the cancer-promoting products of Myc oncogenes), the authors show this circuit is apparently operational ...
2012-08-02
New York, NY (August 2, 2012) — Columbia University Medical Center (CUMC) researchers have identified a mechanism that can give energy-storing white fat some of the beneficial characteristics of energy-burning brown fat. The findings, based on studies of mice and of human fat tissue, could lead to new strategies for treating obesity and type 2 diabetes. The study was published today in the online edition of the journal Cell.
Humans have two types of fat tissue: white fat, which stores excess energy in the form of triglycerides, and brown fat, which is highly efficient ...
2012-08-02
STANFORD, Calif. — Stem cells are special. Nestled in muscle and skin, organ and bone, they bide their time over years or decades until called to replace damaged or lost tissue. One secret to their longevity is an enzyme called telomerase, which stills the relentless ticking of the molecular clock that limits the life span of other cells.
This cellular fountain of youth prevents the progressive shortening of the tips of our chromosomes that occurs with each cell division. But the presence of telomerase can be a double-edged sword: The same activity that ensures long life ...
2012-08-02
BOSTON (8/2/12) -- Through the assembly of genetic components into "circuits" that perform logical operations in living cells, synthetic biologists aim to artificially empower cells to solve critical problems in medicine, energy and the environment. To succeed, however, they'll need far more reliable genetic components than the small number of "off-the-shelf" bacterial parts now available.
Now a new method developed by Boston University biomedical engineers Ahmad S. Khalil and James J. Collins -- and collaborators at Harvard Medical School, Massachusetts General Hospital ...
2012-08-02
Changes in seismic velocity--changes in the speeds at which seismic waves move through the Earth's crust--have been identified during and after many earthquakes. But do these changes also happen before an earthquake, and could they be measured as a way to predict a quake on the way? The search for a clear and measurable pre-quake signal has been called "the holy grail of seismology."
In a new analysis of the 2004 magnitude 6.0 Parkfield earthquake in California, David Schaff suggests some limits on how changes measured by ambient seismic noise could be used as a pre-earthquake ...
2012-08-02
The press release and paper noted below, publishing in the Bulletin of the Seismological Society of America, is strictly under embargo until 12:00 Noon Eastern Time US on August 2, 2012.
The past decade has been plagued with what seems to be a cluster of large earthquakes, with massive quakes striking Sumatra, Chile, Haiti and Japan since 2004. Some researchers have suggested that this cluster has occurred because the earthquakes may be "communicating" across large distances, possibly triggering each other. But a new analysis by Tom Parsons and Eric Geist of the US Geological ...
2012-08-02
CAMBRIDGE, Mass. (August 2, 2012) – Whitehead Institute researchers have found that increased expression of a specific set of genes is strongly associated with metastasis and death in patients with breast, colon, and lung cancers. Not only could this finding help scientists identify a gene profile predictive of patient outcomes and response to treatment, it could also guide the development of therapeutics to target multiple cancer types.
The genes identified are activated by a transcription factor called heat-shock factor 1 (HSF1) as part of a transcriptional program ...
2012-08-02
This press release is available in French.
Researchers at the University of Montreal and its affiliated CHU Sainte-Justine and CHUM hospitals have linked some cases of Essential Tremor (ET) to a specific genetic problem. ET is the most common movement disorder, becoming increasingly frequent with increasing age, which is characterized by an involuntary shaking movement (tremor) that occurs with motion, particularly when doing precise fine movement. The researchers will be publishing their findings tomorrow in The American Journal of Human Genetics.
Exactly why this ...
LAST 30 PRESS RELEASES:
[Press-News.org] Genetic copy-number variants and cancer risk
