Exome sequencing reveals germline NPAT mutation as a candidate risk factor for Hodgkin lymphoma

Saarinen S., Aavikko M., Aittomaki K., Launonen V., Lehtonen R., Franssila K., ...Daha Fazla

BLOOD, cilt.118, sa.3, ss.493-498, 2011 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 118 Konu: 3
  • Basım Tarihi: 2011
  • Doi Numarası: 10.1182/blood-2011-03-341560
  • Dergi Adı: BLOOD
  • Sayfa Sayıları: ss.493-498


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. (Blood. 2011;118(3):493-498)