| Title: | Prevalence and incidence of ATM-related cancers in general population. |
| Lead Institution: | Yonsei University |
| Principal investigator: |
Application 457621
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About
Next-generation sequencing (NGS) technology has broadened its application to clinical practice. Not only for diagnosing Mendelian diseases but also for several types of cancers, and hematologic malignancies. Countless variants are reported by NGS nowadays, however, most of the variants are not clearly interpreted due to the lack of scientific evidence. These variants are named 'Variants of Uncertain Significance (VUS)'. The ATM gene has been studied for its association with cancer risk, and pathogenic variants of ATM found in patients are indications for Poly ADP ribose polymerase (PARP) inhibitors. In this study, we figure out the prevalence of cancers in ATM VUS carriers and compare the biochemical, genomic contexts between the cases and controls.1 Publication
| Pub ID | Title | Author(s) | Year | Journal |
|---|---|---|---|---|
| 16473 | Functional assessment of all ATM SNVs using prime editing and deep learning | Kwang Seob Lee (+9) | 2025 | Cell |
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