Greater Cancer Risk In NBN Mutation Carriers

Main Category: Cancer / Oncology
Also Included In: Genetics
Article Date: 12 Dec 2007 - 7:00 PDT

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A mutation in the NBN gene is associated with an increased risk of cancer in carriers of one copy of the mutation.

Nijmegen breakage syndrome (NBS) is disease that causes congenital microcephaly (a condition marked by abnormally small growth of the head), immunodeficiency, hypersensitivity to x-rays, and a predisposition to cancer, particularly cancers that affect the lymph nodes. The disease is caused by mutations in a gene known as NBN, and more than 90 percent of NBS patients have two copies of a certain mutation - 657del5 - in the NBN gene.

Eva Seemanová, D.Sc., of Charles University in Prague and colleagues identified 344 relatives of NBS patients and tested whether they carried a copy of the mutation. The researchers hypothesized, on the basis of the patients' genealogical data, that these carriers would be at a greater risk for developing cancer.

Thirteen of the relatives were diagnosed with cancer, and of those, 11 carried the NBN mutation. Only six cancers would be expected in the general population.

"The statistically significant excess of NBN 657del5 mutation carriers that we found among test cancer patients supports the hypothesis that [this genetic mutation predisposes] carriers to cancer," the authors write.

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Notes:

The Journal of the National Cancer Institute is published by Oxford University Press and is not affiliated with the National Cancer Institute. Visit the Journal online at http://jnci.oxfordjournals.org/.



Contact: Eva Seemanová, http://www.cuni.cz

Source:
Highlights from the Dec. 11 JNCI
Liz Savage
Journal of the National Cancer Institute

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