Publications by authors named "Rachel M Hendricks"
Article Synopsis
- About 10% of people with myeloid malignancies have a genetic predisposition, and a study used a genome-first approach to investigate this.
- They analyzed eight specific genes associated with myeloid malignancy risk in a large sample of individuals from two databases, discovering high odds of developing these cancers and reduced survival rates among those with harmful genetic variants.
- The most frequently found variant was in the DDX41 gene, which dramatically increased the likelihood of developing myeloid malignancies and also raised the risk of overall mortality among those affected.
Patients with severe aplastic anemia (SAA) can have an unrecognized inherited bone marrow failure syndrome (IBMFS) because of phenotypic heterogeneity. We curated germline genetic variants in 104 IBMFS-associated genes from exome sequencing performed on 732 patients who underwent hematopoietic cell transplant (HCT) between 1989 and 2015 for acquired SAA. Patients with pathogenic or likely pathogenic (P/LP) variants fitting known disease zygosity patterns were deemed unrecognized IBMFS.
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