Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Childhood brain tumors associated with rarely inherited BRCA2 gene mutations

15.10.2003


New research led by scientists at Memorial Sloan-Kettering Cancer Center and The Rockefeller University shows that pediatric brain tumors and Fanconi anemia can develop among children in the rare instance that both parents carry mutations of the BRCA2 gene. The work will be published in the October 15 issue of the Journal of the National Cancer Institute.



The report describes four families in which both parents carried BRCA2 mutations. The families were part of The International Fanconi Anemia Registry, a unique, prospectively collected database of approximately 1,000 patients with Fanconi anemia, a rare inherited disorder characterized by a severe deficiency of red blood cells, bone marrow failure, and a predisposition to cancer. The registry was established at The Rockefeller University in 1982 to address questions relating to diagnosis, prognosis, treatment, natural history of the disease, and cancer incidence in a large number of patients with this disorder.

According to the study, individual children from three of the families, and two distant cousins from the fourth family were born carrying two mutations of the BRCA2 gene, one inherited from each of their parents. In all four cases, the children were affected not only with Fanconi anemia, but also with brain tumors diagnosed at an average age of 3.5 years.


"These findings are the first to establish childhood brain cancers, predominantly medulloblastoma, as among the diseases that can occur if both parents carry BRCA2 mutations," said the study’s lead author Kenneth Offit, MD, Chief of the Clinical Genetics Service at Memorial Sloan-Kettering Cancer Center (MSKCC).

"It has been known that in rare cases, BRCA2 mutations can be inherited and cause Fanconi anemia," commented the study’s senior author Arleen Auerbach, PhD, Director of the International Fanconi Anemia Registry at The Rockefeller University.

"While brain tumors are extremely unusual in these patients, these results suggest that BRCA2 mutations may provide an important clue to the origin of these tumors," she said.

In the study, two of the four families with affected children carried a particular mutation of BRCA2 – the identical mutation in BRCA2 that is most frequency associated with an increased risk of breast and ovarian cancer in those of Ashkenazi Jewish ancestry. That mutation was first described by Dr. Offit’s group in 1996.

In the study, the authors recommend that individuals with BRCA2 mutations consider additional genetic counseling if their spouse is also at increased risk for having a BRCA2 mutation. In the rare circumstance that their partner also carries a BRCA2 mutation, there is the possibility that their offspring may be affected by Fanconi anemia and brain tumors.

However, according to the researchers, such cases are extremely rare. The chances of someone in the general population having a BRCA2 mutation are about 1 in 800; the risk is higher among individuals of Ashkenazi Jewish descent, approximately 1 in 100. In addition, while the total number of Fanconi anemia patients is not documented worldwide, scientists estimate that the likelihood of being a carrier for this disorder is somewhere between 1 in 300 and 1 in 100, the carrier frequency varying by ethnic group. If both parents carry a mutation in the same Fanconi anemia gene, each of their children has a 25 percent chance of inheriting the defective gene from both parents, which would cause the child to have the disorder.

"By studying the occurrence of very rare tumors in genetically defined populations, we have been able to learn much about the mechanisms of tumor development," said Dr. Auerbach.

Additional experiments are underway to analyze whether BRCA2 mutations are involved in other cases of childhood brain cancer among families in the registry.

"Our goal is to translate these findings regarding cancers of the brain and breast into better prevention and treatment strategies for these malignancies," said Dr. Offit.


The work was supported by the National Institutes of Health; the Lymphoma Foundation; the Danziger Foundation; the Koodish Fellowship; the Goldsmith Research Project; the Lomangino, Weissenbach, Southworth, and Niehaus Family Research Funds; the Elterninitiative Kinderkrebsklinik e. V.; and the Kinderstem e. V.

MSKCC is the world’s oldest and largest private institution devoted to prevention, patient care, research, and education in cancer. Our scientists and clinicians generate innovative approaches to better understand, diagnose and treat cancer. Our specialists are leaders in biomedical research and in translating the latest research to advance the standard of cancer care worldwide.

Esther Carver | EurekAlert!
Further information:
http://www.mskcc.org/

More articles from Health and Medicine:

nachricht Another reason to exercise: Burning bone fat -- a key to better bone health
19.05.2017 | University of North Carolina Health Care

nachricht Disrupted fat breakdown in the brain makes mice dumb
19.05.2017 | Rheinische Friedrich-Wilhelms-Universität Bonn

All articles from Health and Medicine >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Turmoil in sluggish electrons’ existence

An international team of physicists has monitored the scattering behaviour of electrons in a non-conducting material in real-time. Their insights could be beneficial for radiotherapy.

We can refer to electrons in non-conducting materials as ‘sluggish’. Typically, they remain fixed in a location, deep inside an atomic composite. It is hence...

Im Focus: Wafer-thin Magnetic Materials Developed for Future Quantum Technologies

Two-dimensional magnetic structures are regarded as a promising material for new types of data storage, since the magnetic properties of individual molecular building blocks can be investigated and modified. For the first time, researchers have now produced a wafer-thin ferrimagnet, in which molecules with different magnetic centers arrange themselves on a gold surface to form a checkerboard pattern. Scientists at the Swiss Nanoscience Institute at the University of Basel and the Paul Scherrer Institute published their findings in the journal Nature Communications.

Ferrimagnets are composed of two centers which are magnetized at different strengths and point in opposing directions. Two-dimensional, quasi-flat ferrimagnets...

Im Focus: World's thinnest hologram paves path to new 3-D world

Nano-hologram paves way for integration of 3-D holography into everyday electronics

An Australian-Chinese research team has created the world's thinnest hologram, paving the way towards the integration of 3D holography into everyday...

Im Focus: Using graphene to create quantum bits

In the race to produce a quantum computer, a number of projects are seeking a way to create quantum bits -- or qubits -- that are stable, meaning they are not much affected by changes in their environment. This normally needs highly nonlinear non-dissipative elements capable of functioning at very low temperatures.

In pursuit of this goal, researchers at EPFL's Laboratory of Photonics and Quantum Measurements LPQM (STI/SB), have investigated a nonlinear graphene-based...

Im Focus: Bacteria harness the lotus effect to protect themselves

Biofilms: Researchers find the causes of water-repelling properties

Dental plaque and the viscous brown slime in drainpipes are two familiar examples of bacterial biofilms. Removing such bacterial depositions from surfaces is...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

AWK Aachen Machine Tool Colloquium 2017: Internet of Production for Agile Enterprises

23.05.2017 | Event News

Dortmund MST Conference presents Individualized Healthcare Solutions with micro and nanotechnology

22.05.2017 | Event News

Innovation 4.0: Shaping a humane fourth industrial revolution

17.05.2017 | Event News

 
Latest News

Supercomputing helps researchers understand Earth's interior

23.05.2017 | Earth Sciences

Study identifies RNA molecule that shields breast cancer stem cells from immune system

23.05.2017 | Life Sciences

Turmoil in sluggish electrons’ existence

23.05.2017 | Physics and Astronomy

VideoLinks
B2B-VideoLinks
More VideoLinks >>>