Recent findings in understanding the causal role of blood mosaic protein-truncating DNA variants in leukemia prompt questions about generalizability of such observations for other cancer types. We used exome sequencing to compare 22 different cancer phenotypes from TCGA data (~8,000 samples) with more than 6,000 controls using a case-control study design and demonstrate that mosaic protein truncating variants in these genes are also associated with solid-tumor cancers. We analyzed tumor DNA samples from TCGA and observed that the cancer-associated mosaic variants are absent from the tumors. Through analysis of different cancer phenotypes we observe gene-specificity for mosaic mutations. PPM1D in previous reports has been linked to breast and ovarian cancer, which our analysis confirms as a specific gene for ovarian cancer. Additionally, glioblastoma, melanoma and lung cancers show gene specific burden of the mosaic protein truncating mutations. Taken together, these results extend existing observations and link solid-tumor cancers to somatic blood DNA changes.
- Downloaded 829 times
- Download rankings, all-time:
- Site-wide: 32,595
- In genetics: 1,498
- Year to date:
- Site-wide: 153,431
- Since beginning of last month:
- Site-wide: None
Downloads over time
Distribution of downloads per paper, site-wide
- 27 Nov 2020: The website and API now include results pulled from medRxiv as well as bioRxiv.
- 18 Dec 2019: We're pleased to announce PanLingua, a new tool that enables you to search for machine-translated bioRxiv preprints using more than 100 different languages.
- 21 May 2019: PLOS Biology has published a community page about Rxivist.org and its design.
- 10 May 2019: The paper analyzing the Rxivist dataset has been published at eLife.
- 1 Mar 2019: We now have summary statistics about bioRxiv downloads and submissions.
- 8 Feb 2019: Data from Altmetric is now available on the Rxivist details page for every preprint. Look for the "donut" under the download metrics.
- 30 Jan 2019: preLights has featured the Rxivist preprint and written about our findings.
- 22 Jan 2019: Nature just published an article about Rxivist and our data.
- 13 Jan 2019: The Rxivist preprint is live!