Articles with "mutation profiling" as a keyword



Mutation profiling of 16 candidate genes in de novo acute myeloid leukemia patients

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Published in 2018 at "Frontiers of Medicine"

DOI: 10.1007/s11684-018-0616-1

Abstract: This retrospective analysis aimed to investigate the mutation profile of 16 common mutated genes in de novo acute myeloid leukemia (AML) patients. A total of 259 patients who were diagnosed of de novo AML were… read more here.

Keywords: genes novo; novo acute; myeloid leukemia; mutation profiling ... See more keywords

Mutation profiling of chronic myeloproliferative neoplasms: improving clinical-molecular prognostic models

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Published in 2025 at "Expert Review of Molecular Diagnostics"

DOI: 10.1080/14737159.2025.2573466

Abstract: ABSTRACT Introduction Classic myeloproliferative neoplasms (MPN), comprising polycythemia vera (PV), essential thrombocythemia (ET), and myelofibrosis (MF), both primary and secondary to PV and ET, are clonal hematopoietic disorders characterized by abnormal proliferation of largely mature… read more here.

Keywords: profiling chronic; mutation profiling; myeloproliferative neoplasms; prognostic models ... See more keywords
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Mutation profiling by targeted sequencing of “triple‐negative” essential thrombocythaemia patients

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Published in 2018 at "British Journal of Haematology"

DOI: 10.1111/bjh.14723

Abstract: Burger, J.A., Tedeschi, A., Barr, P.M., Robak, T., Owen, C., Ghia, P., Bairey, O., Hillmen, P., Bartlett, N.L., Li, J., Simpson, D., Grosicki, S., Devereux, S., McCarthy, H., Coutre, S., Quach, H., Gaidano, G., Maslyak,… read more here.

Keywords: medicine; profiling targeted; mutation profiling; sequencing triple ... See more keywords

Mutation profiling of circulating tumor DNA identifies distinct mutation patterns in non‐Hodgkin lymphoma

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Published in 2022 at "European Journal of Haematology"

DOI: 10.1111/ejh.13736

Abstract: Circulating tumor DNA (ctDNA) is emerging as a versatile biomarker for noninvasive genotyping and response monitoring in specific B‐cell lymphomas; however, few studies have been conducted to explore ctDNA‐based mutation profiling across non‐Hodgkin lymphomas (NHLs)… read more here.

Keywords: circulating tumor; tumor dna; mutation; non hodgkin ... See more keywords

Mutation Profiling of Premalignant Colorectal Neoplasia

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Published in 2019 at "Gastroenterology Research and Practice"

DOI: 10.1155/2019/2542640

Abstract: Accumulation of allelic variants in genes that regulate cellular proliferation, differentiation, and apoptosis may result in expansion of the aberrant intestinal epithelium, generating adenomas. Herein, we compared the mutation profiles of conventional colorectal adenomas (CNADs)… read more here.

Keywords: lgd adenomas; profiling premalignant; grade dysplasia; mutation profiling ... See more keywords

Abstract B021: Development of an ultrasensitive sequencing platform for blood-based mutation profiling of pancreas cancer patients

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Published in 2024 at "Cancer Research"

DOI: 10.1158/1538-7445.pancreatic24-b021

Abstract: Introduction: One barrier to improving Pancreatic Ductal Adenocarcinoma (PDAC) patient outcomes is the absence of effective, non-invasive biomarkers for disease screening, treatment monitoring, and identification of therapeutic targets. While sequencing-based approaches to detect mutant circulating… read more here.

Keywords: mutation profiling; cancer; development ultrasensitive; blood ... See more keywords

Determining the clinical value of germline genetic testing coupled with tumor mutation profiling.

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Published in 2017 at "Journal of Clinical Oncology"

DOI: 10.1200/jco.2017.35.15_suppl.1577

Abstract: 1577Background: Somatic mutation analysis by next-generation sequencing (NGS) is an expanding clinical assessment offered to cancer patients. Studies report that 4–12% of patients have a positive tumor mutation profiling (TMP) result in a known cancer… read more here.

Keywords: mutation; genetic testing; tumor mutation; mutation profiling ... See more keywords

Performance and validation of a tumor mutation profiling, based on artificial intelligence annotation, to assist oncology decision making.

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Published in 2019 at "Journal of Clinical Oncology"

DOI: 10.1200/jco.2019.37.15_suppl.e13148

Abstract: e13148 Background: Tumor mutation profiling has become a key component for orienteering the treatment of oncologic patients. A crucial step for this is the correct identification and classification of pathogenic and actionable variants. In the… read more here.

Keywords: performance; annotation; tumor; oncology ... See more keywords