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 TSRI researchers develop new method to 'fingerprint' HIV
29.03.2017 | Scripps Research Institute

nachricht Periodic ventilation keeps more pollen out than tilted-open windows
29.03.2017 | Technische Universität München

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: A Challenging European Research Project to Develop New Tiny Microscopes

The Institute of Semiconductor Technology and the Institute of Physical and Theoretical Chemistry, both members of the Laboratory for Emerging Nanometrology (LENA), at Technische Universität Braunschweig are partners in a new European research project entitled ChipScope, which aims to develop a completely new and extremely small optical microscope capable of observing the interior of living cells in real time. A consortium of 7 partners from 5 countries will tackle this issue with very ambitious objectives during a four-year research program.

To demonstrate the usefulness of this new scientific tool, at the end of the project the developed chip-sized microscope will be used to observe in real-time...

Im Focus: Giant Magnetic Fields in the Universe

Astronomers from Bonn and Tautenburg in Thuringia (Germany) used the 100-m radio telescope at Effelsberg to observe several galaxy clusters. At the edges of these large accumulations of dark matter, stellar systems (galaxies), hot gas, and charged particles, they found magnetic fields that are exceptionally ordered over distances of many million light years. This makes them the most extended magnetic fields in the universe known so far.

The results will be published on March 22 in the journal „Astronomy & Astrophysics“.

Galaxy clusters are the largest gravitationally bound structures in the universe. With a typical extent of about 10 million light years, i.e. 100 times the...

Im Focus: Tracing down linear ubiquitination

Researchers at the Goethe University Frankfurt, together with partners from the University of Tübingen in Germany and Queen Mary University as well as Francis Crick Institute from London (UK) have developed a novel technology to decipher the secret ubiquitin code.

Ubiquitin is a small protein that can be linked to other cellular proteins, thereby controlling and modulating their functions. The attachment occurs in many...

Im Focus: Perovskite edges can be tuned for optoelectronic performance

Layered 2D material improves efficiency for solar cells and LEDs

In the eternal search for next generation high-efficiency solar cells and LEDs, scientists at Los Alamos National Laboratory and their partners are creating...

Im Focus: Polymer-coated silicon nanosheets as alternative to graphene: A perfect team for nanoelectronics

Silicon nanosheets are thin, two-dimensional layers with exceptional optoelectronic properties very similar to those of graphene. Albeit, the nanosheets are less stable. Now researchers at the Technical University of Munich (TUM) have, for the first time ever, produced a composite material combining silicon nanosheets and a polymer that is both UV-resistant and easy to process. This brings the scientists a significant step closer to industrial applications like flexible displays and photosensors.

Silicon nanosheets are thin, two-dimensional layers with exceptional optoelectronic properties very similar to those of graphene. Albeit, the nanosheets are...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

International Land Use Symposium ILUS 2017: Call for Abstracts and Registration open

20.03.2017 | Event News

CONNECT 2017: International congress on connective tissue

14.03.2017 | Event News

ICTM Conference: Turbine Construction between Big Data and Additive Manufacturing

07.03.2017 | Event News

 
Latest News

Researchers shoot for success with simulations of laser pulse-material interactions

29.03.2017 | Materials Sciences

Igniting a solar flare in the corona with lower-atmosphere kindling

29.03.2017 | Physics and Astronomy

As sea level rises, much of Honolulu and Waikiki vulnerable to groundwater inundation

29.03.2017 | Earth Sciences

VideoLinks
B2B-VideoLinks
More VideoLinks >>>