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Full-Text Articles in Molecular Genetics
Germline Variants Associated With Cancer Predisposition And Bone Marrow Failure Are Common In Kmt2a-R Infant Acute Lymphoblastic Leukemia Patients, Sarah E. Mc Dermott
Germline Variants Associated With Cancer Predisposition And Bone Marrow Failure Are Common In Kmt2a-R Infant Acute Lymphoblastic Leukemia Patients, Sarah E. Mc Dermott
Research Days
Background: Infant acute lymphoblastic leukemia (ALL), is a particularly aggressive subtype of leukemia with an early onset and unfavorable clinical outcome. Most (~70%) cases of infant ALL involve chromosomal rearrangement of KMT2A (KMT2A- r) on chromosome 11q23, the strongest independent predictor of a poor prognosis. To date, genomics studies have consistently demonstrated KMT2A-r infant ALL to have a strikingly silent landscape of DNA mutations. Germline mutations in cancer predisposition genes are found in 8.6% of pediatric malignancies and 4.4% of pediatric leukemias, compared to 1.1% in persons in the 1000 Genomes Project.
Objectives/Goal: We hypothesized that germline variants may contribute …
Clinical Utility Of Exon Deletion/Duplication Microarray Testing - A Children’S Mercy Kansas City Two-Year Experience, Binu Porath
Clinical Utility Of Exon Deletion/Duplication Microarray Testing - A Children’S Mercy Kansas City Two-Year Experience, Binu Porath
Research Days
No abstract provided.
A Discrepancy Between The Human Reference Genome (Grch37) And Transcriptome (Refseq) Results In The Incorrect Annotation Of A Clinically-Relevant Sequence Variant In Recql4, Lisa A. Lansdon
Research Days
No abstract provided.