Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies.

ABSTRACT: Recently our group and others have identified DDX41 mutations both as germ line and acquired somatic mutations in families with multiple cases of late onset myelodysplastic syndrome (MDS) and/or acute myeloid leukemia (AML), suggesting that DDX41 acts as a tumor suppressor. To determine whether novel DDX41 mutations could be identified in families with additional types of hematologic malignancies, our group screened two cohorts of families with a diverse range of hematologic malignancy subtypes. Among 289 families, we identified nine (3%) with DDX41 mutations. As previously observed, MDS and AML were the most common malignancies, often of the erythroblastic subtype, and 1 family displayed early-onset follicular lymphoma. Five novel mutations were identified, including missense mutations wi

SUBMITTER: Lewinsohn M 

PROVIDER: S-EPMC4968341 | biostudies-literature | 2016 Feb

REPOSITORIES: biostudies-literature