Germ line mutations in shelterin complex genes are associated with familial chronic lymphocytic leukemia

Chronic lymphocytic leukemia (CLL) can be familial; however, thus far no rare germ line disruptive alleles for CLL have been identified. We performed whole-exome sequencing of 66 CLL families, identifying 4 families where loss-of-function mutations in protection of telomeres 1 (POT1) co-segregated w...

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Detalhes bibliográficos
Publicado no:Blood
Main Authors: Speedy, Helen E., Kinnersley, Ben, Chubb, Daniel, Broderick, Peter, Law, Philip J., Litchfield, Kevin, Jayne, Sandrine, Dyer, Martin J. S., Dearden, Claire, Follows, George A., Catovsky, Daniel, Houlston, Richard S.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Hematology 2016
Assuntos:
Lymphoid Neoplasia
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5271173/
https://ncbi.nlm.nih.gov/pubmed/27528712
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2016-01-695692
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