FRIDAY, Dec. 14 (HealthDay News) -- Carriers of a genetic mutation associated with Nijmegen breakage syndrome, which in homozygotes is associated with an increased risk of cancer, also have an increased cancer risk, according to study findings published in the Dec. 19 issue of the Journal of the National Cancer Institute.
Eva Seemanova, from the Second Medical School of Charles University in Prague, Czech Republic, and colleagues determined the prevalence of the 657del5 mutation in the NBN gene among 344 blood relatives (first- through fourth-degree) of 24 different families of Czech and Slovakian patients with Nijmegen breakage syndrome.
The researchers found that 13 blood relatives had a confirmed cancer. Of these, 11 carried the 657del5 mutation, significantly more than the six expected. Among 56 grandparents with complete data, 10 of the 28 carriers developed cancer, compared with only 1 of the 28 non-carriers (odds ratio 10.7).
"The NBN 657del5 mutation appears to be associated with an elevated risk of cancer in heterozygotes," Seemanova and colleagues conclude.
Abstract
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