Article: Challenges associated with the identification of germline variants on myeloid malignancy genomic profiling-a Singaporean experience.
2023 Volume 13, Page(s) 1182639
Abstract: Genomic profiling to identify myeloid-malignancy-related gene mutations is routinely performed for patients with suspected or definite myeloid malignancies. The most common specimen types in our experience are peripheral blood and bone marrow aspirates. ... ...
| Abstract | Genomic profiling to identify myeloid-malignancy-related gene mutations is routinely performed for patients with suspected or definite myeloid malignancies. The most common specimen types in our experience are peripheral blood and bone marrow aspirates. Although primarily intended to identify somatic mutations, not infrequently, potentially clinically significant germline variants are also identified. Confirmation of the germline status of these variants is typically performed by hair follicle or skin fibroblast testing. If the germline variant is classified as a pathogenic or likely pathogenic variant and occurs in a gene known to be associated with a disease relevant to the patient's phenotype (for example, the identification of a |
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| Language | English |
| Publishing date | 2023-10-04 |
| Publishing country | Switzerland |
| Document type | Journal Article ; Review |
| ZDB-ID | 2649216-7 |
| ISSN | 2234-943X |
| ISSN | 2234-943X |
| DOI | 10.3389/fonc.2023.1182639 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
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