Article
Genome-wide linkage analysis to identify genetic modifiers of ALK mutation penetrance in familial neuroblastoma.
Human heredity - 1 Jan 2011
Devoto Marcella, Specchia Claudia, Laudenslager Marci, Longo Luca, Hakonarson Hakon, Maris John, Mossé Yael
Abstract excerpt
BACKGROUND: Neuroblastoma (NB) is an important childhood cancer with a strong genetic component related to disease susceptibility. Approximately 1% of NB cases have a positive family history. Following a genome-wide linkage analysis and sequencing of candidate genes in the critical region, we identified ALK as the major familial NB gene. Dominant mutations in ALK are found in more than 50% of familial NB cases....
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