Genome-Wide Linkage Analysis to Identify Genetic Modifiers of ALK Mutation Penetrance in Familial Neuroblastoma | Zendy

Marcella Devoto | Zendy; Claudia Specchia | Zendy; Marci Laudenslager | Zendy; Luca Longo | Zendy; Hákon Hákonarson | Zendy; John M. Maris | Zendy; Yaël P. Mossé | Zendy

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Genome-Wide Linkage Analysis to Identify Genetic Modifiers of <i>ALK</i> Mutation Penetrance in Familial Neuroblastoma

Author(s) -

Marcella Devoto,

Claudia Specchia,

Marci Laudenslager,

Luca Longo,

Hákon Hákonarson,

John M. Maris,

Yaël P. Mossé

Publication year - 2011

Publication title -

human heredity

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.423

H-Index - 62

eISSN - 1423-0062

pISSN - 0001-5652

DOI - 10.1159/000324843

Subject(s) - genetics , penetrance , biology , locus (genetics) , gene , mutation , genetic linkage , phenotype

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. However, in the families used for the linkage study, only about 50% of carriers of ALK mutations are affected by NB.

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