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| http://dx.doi.org/10.1038/leu.2014.48 | DOI Listing |
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Germline variants detected by multigene panel testing in patients with suspected hereditary breast cancer.
Surg Today
January 2025
Department of Surgery, Division of Breast and Endocrine Surgery, School of Medicine, Hyogo Medical University, 1-1 Mukogawa-cho, Nishinomiya, Hyogo, 663-8501, Japan.
Purpose: To clarify the status of multigene panel testing for suspected hereditary breast cancer in our institute, and disclose the characteristics of the variants detected.
Methods: This was a retrospective study of individuals who underwent next-generation sequencing-based multigene panel testing at our institute to investigate hereditary genetic variants for suspected hereditary breast cancer.
Results: We identified 36 women who underwent multigene panel testing: 8 (22.
promoter hypermethylation and Lynch Syndrome: When to test for constitutional epimutations of gene?
Tumori
January 2025
IEO, European Institute of Oncology IRCCS, Division of Cancer Prevention and Genetics, Milan, Italy.
Lynch syndrome is a genetic condition predisposing to cancer, particularly colorectal cancer and endometrial cancer, due to germline mutations in MisMatch Repair genes. More rarely, Lynch syndrome is the result of a constitutional promoter methylation. This review summarizes the current knowledge about the role of this epigenetic mechanism in the Lynch syndrome.
View Article and Find Full Text PDFRhesus macaques (RMs) are vital models for studying human disease, and are invaluable to pre-clinical pipelines for vaccine discovery and testing. Particularly in this regard, they are often used to study infection and vaccine-associated broadly neutralizing antibody responses. This has resulted in an increasing demand for improved genetic resources for the immunoglobulin (IG) loci, which harbor antibody-encoding genes.
View Article and Find Full Text PDFTranslation of maternal mRNAs is crucial for early embryonic development. In cell fates become determined from the first division without new transcription, making this organism ideal for studying post-transcriptional regulation of lineage specification. Using low-input ribosome profiling combined with RNA sequencing on precisely staged embryos, we measured protein translation during the first four cell cycles of development.
View Article and Find Full Text PDFPlant mitochondrial and plastid genomes have exceptionally slow rates of sequence evolution, and recent work has identified an unusual member of the gene family ("plant ") as being instrumental in preventing point mutations in these genomes. However, the eXects of disrupting -mediated DNA repair on "germline" mutation rates have not been quantified. Here, we used mutation accumulation (MA) lines to measure mutation rates in mutants and matched wild type (WT) controls.
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