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Your search keyword '"Benjamin Hilton"' showing total 11 results
Start Over Author "Benjamin Hilton" Journal cancer genetics
11 results on '"Benjamin Hilton"'

3. 3. Standardizing recurrent copy number variant classification – From benign to reduced and high penetrance regions

Author

John Herriges, Benjamin Hilton, Shulin Zhang, Laura K. Conlin, Bradley P. Coe, Erica F. Andersen, Erin Rooney Riggs, Justin Schleede, Brynn Levy, Erik C. Thorland, Vaidehi Jobanputra, Marsha Speevak, McKinsey L. Goodenberger, Prabakaran Paulraj, Cassandra K. Runke, and Christa Lese Martin

Subjects
Genetics, Cancer Research, Copy-number variation, Biology, Molecular Biology, High penetrance
Published
2021

4. Chronic myelomonocytic leukemia with ETV6-ABL1 rearrangement and SMC1A mutation

Author

Reha M. Toydemir, Alice Cluff, Benjamin Hilton, Daanish Hoda, Prabakaran Paulraj, Philippe Szankasi, Jay Patel, Kianoush Sadre-Bazzaz, and Melissa H. Cessna

Subjects
Male, Cancer Research, Myeloid, Lineage (genetic), Oncogene Proteins, Fusion, Chromosomal Proteins, Non-Histone, Mutation, Missense, Chronic myelomonocytic leukemia, Chromosomal translocation, Cell Cycle Proteins, Biology, 03 medical and health sciences, 0302 clinical medicine, Monocytosis, hemic and lymphatic diseases, Genetics, medicine, Missense mutation, Humans, Molecular Biology, Gene Rearrangement, ABL, Leukemia, Myelomonocytic, Chronic, Middle Aged, Protein-Tyrosine Kinases, medicine.disease, ETV6, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Karyotyping, Cancer research
Abstract

Chronic myelomonocytic leukemia (CMML) is a rare malignant neoplasm of the blood-forming cells in bone marrow characterized by persistent monocytosis. Although most patients with CMML show clonal genetic aberrations, there is no known cytogenetic or molecular genetic finding that is specific to CMML. We report a patient who had a clinical and morphological presentation consistent with CMML. The genetic work-up showed an ETV6-ABL1 fusion consequent to a 9;12 translocation, and a missense mutation in SMC1A (c.1757G>A, p.Arg586Gln). The SMC1A mutations are recurrent, albeit rare, in myeloid malignancies, without an established clinical significance in CMML. ETV6-ABL1 fusion is a rare but recurrent genetic aberration found in various hematologic malignancies involving both the lymphoid and myeloid lineage, but to the best of our knowledge, CMML is an exceptionally rare presentation of ETV6-ABL1 rearranged neoplasm. ETV6-ABL1 fusion is often formed through complex rearrangements, and usually cryptic by routine G-banded chromosome analysis. The diseases associated with this rearrangement generally have an aggressive course, hence detecting or excluding this rearrangement during diagnostic work-up is critical for treatment planning.

Published
2019

5. 10. New evidence for triplosensitivity of TBL1XR1

Author

Barbara R. DuPont, Kameryn M. Butler, Shannon Bell, Benjamin Hilton, and Katie Clarkson

Subjects
Cancer Research, Evolutionary biology, Genetics, Biology, Molecular Biology
Published
2021

11. 28. Dosage sensitivity curation of recurrent copy number variant regions

Author

Vaidehi Jobanputra, Christa Lese Martin, Ted Higginbotham, John Herriges, Erik C. Thorland, Prabakaran Paulraj, Hutton M. Kearney, Laura K. Conlin, Erica F. Andersen, Lei Zhang, Bradley P. Coe, Benjamin Hilton, Karen Ouyang, Marsha Speevak, Ross A. Rowsey, Erin Rooney Riggs, and Rachel D. Burnside

Subjects
Cancer Research, Genetics, Copy-number variation, Sensitivity (control systems), Computational biology, Biology, Molecular Biology
Published
2018

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