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Exome sequencing reveals germline NPAT mutation as a candidate risk factor for Hodgkin lymphoma.
- Source :
-
Blood [Blood] 2011 Jul 21; Vol. 118 (3), pp. 493-8. Date of Electronic Publication: 2011 May 11. - Publication Year :
- 2011
-
Abstract
- A strong clustering of Hodgkin lymphoma in certain families has been long acknowledged. However, the genetic factors in the background of familial Hodgkin lymphoma are largely unknown. We have studied a family of 4 cousins with a rare subtype of the disease, nodular lymphocyte predominant Hodgkin lymphoma. We applied exome sequencing together with genome-wide linkage analysis to this family and identified a truncating germline mutation in nuclear protein, ataxia-telangiectasia locus (NPAT) gene, which segregated in the family. We also studied a large number of samples from other patients with Hodgkin lymphoma, and a germline variation leading to the deletion of serine 724 was found in several cases suggesting an elevated risk for the disease (odds ratio = 4.11; P = .018). NPAT is thus far the first gene implicated in nodular lymphocyte predominant Hodgkin lymphoma predisposition.
- Subjects :
- Cell Line, Tumor
DNA Mutational Analysis
Family Health
Female
Finland epidemiology
Genetic Linkage
Genetic Predisposition to Disease epidemiology
Genetic Predisposition to Disease genetics
Humans
Lymphoma, Follicular epidemiology
Lymphoma, Follicular genetics
Male
Pedigree
Risk Factors
Young Adult
Cell Cycle Proteins genetics
Germ-Line Mutation
Hodgkin Disease epidemiology
Hodgkin Disease genetics
Nuclear Proteins genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1528-0020
- Volume :
- 118
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- Blood
- Publication Type :
- Academic Journal
- Accession number :
- 21562039
- Full Text :
- https://doi.org/10.1182/blood-2011-03-341560