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Childhood brain tumors associated with rarely inherited BRCA2 gene mutations

NEW YORK, October 15, 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 unu
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Contact: Esther Carver
mediastaff@mskcc.org
212-639-3573
Memorial Sloan-Kettering Cancer Center
14-Oct-2003


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