Exome sequencing reveals germline NPAT mutation as a candidate risk factor for Hodgkin lymphoma
S Saarinen, M Aavikko, K Aittomäki… - Blood, The Journal …, 2011 - ashpublications.org
S Saarinen, M Aavikko, K Aittomäki, V Launonen, R Lehtonen, K Franssila, HJ Lehtonen…
Blood, The Journal of the American Society of Hematology, 2011•ashpublications.orgA 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 …
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 …
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.
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