Publications by authors named "Laura Baudet"
Article Synopsis
- A study on a 49-year-old Caucasian woman with an aggressive breast tumor found two pathogenic variants in cancer-predisposing genes using targeted next-generation sequencing.
- One variant was confirmed through multiplex ligation probe amplification, while the other was classified as likely pathogenic after functional studies, indicating its potential role in cancer development.
- The research highlights the need for better management of patients with rare double-heterozygous genotypes, especially as genetic testing evolves from targeted BRCA sequencing to broader hereditary cancer panels.
Transposable elements (TEs) have invaded most genomes and constitute up to 50% of the human genome. Machinery based on small non-coding piRNAs has evolved to inhibit their expression at the transcriptional and post-transcriptional levels. Surprisingly, this machinery is weakened during specific windows of time in mice, flies or plants, allowing the expression of TEs in germline cells.
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