Publications by authors named "Sophia E Maharry"
Clinical outcome of patients with acute myeloid leukemia (AML) is associated with cytogenetic and molecular factors and patient demographics (e.g., age and race).
View Article and Find Full Text PDFPurpose: Uniparental disomy (UPD) is a way cancer cells duplicate a mutated gene, causing loss of heterozygosity (LOH). Patients with cytogenetically normal acute myeloid leukemia (CN-AML) do not have microscopically detectable chromosome abnormalities, but can harbor UPDs. We examined the prognostic significance of UPDs and frequency of LOH in patients with CN-AML.
View Article and Find Full Text PDFTargeted mutation assessment of 81 genes in 1021 adults with de novo acute myeloid leukemia (AML) identified recurrent mutations in the neurofibromin 1 (NF1) gene in 52 (5.1%) patients, including 36 (5.2%) younger and 16 (4.
View Article and Find Full Text PDFMutation patterns identify adult patients with de novo acute myeloid leukemia aged 60 years or older who respond favorably to standard chemotherapy: an analysis of Alliance studies.
Leukemia
June 2018
Article Synopsis
- Only 5-15% of AML patients over 60 achieve a cure with chemotherapy, highlighting the need for better patient identification for treatment.
- A study on 423 older AML patients used genetic profiling to classify them into good, intermediate, and poor-risk groups based on their likelihood of achieving complete remission and survival rates.
- The findings suggest that incorporating genetic mutations into patient classification could improve predictions for treatment outcomes, potentially refining existing classification criteria in older AML patients.
Unlabelled: Chromosomal aberrations and multiple genome-wide association studies (GWAS) have established a major hematopoietic quantitative trait locus in chromosome 6q23.3. The locus comprises an active enhancer region, in which some of the associated SNPs alter transcription factor binding.
View Article and Find Full Text PDFMicroRNA-3151 inactivates TP53 in BRAF-mutated human malignancies.
Proc Natl Acad Sci U S A
December 2015
The B-Raf proto-oncogene serine/threonine kinase (BRAF) gene is the most frequently mutated gene in malignant melanoma (MM) and papillary thyroid cancer (PTC) and is causally involved in malignant cell transformation. Mutated BRAF is associated with an aggressive disease phenotype, thus making it a top candidate for targeted treatment strategies in MM and PTC. We show that BRAF mutations in both MM and PTC drive increased expression of oncomiR-3151, which is coactivated by the SP1/NF-κB complex.
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