Family ties: Inherited genetic variants increase risk of Hodgkinlymphoma
Familial aggregation of Hodgkin lymphoma has been demonstrated in large population studies, pointing to genetic predisposition to this hematological malignancy. To understand the genetic variants associated with the development of HL, we performed whole genome sequencing on 234 individuals with and without HL from 36 pedigrees that had 2 or more first-degree relatives with HL.
Our pedigree selection criteria also required at least one affected individual younger than 21 years of age, with the median age at diagnosis of 21.98 years of age . Family-based segregation analysis was performed for identification of coding and noncoding variants using linkage and filtering approaches. Using our tiered variant prioritization algorithm, we identified 44 HL risk variants in 28 pedigrees, of which 33 are coding, 11 are noncoding.
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