Mosaic mutations in blood DNA sequence are associated with solid tumor cancers
Cancer: Blood mutations linked to solid tumor risk Increased risk for solid tumors linked to mutations detected in blood samples that shorten the coding sequence of their genes. Mark Daly and colleagues from the Broad Institute in Cambridge, Massachusetts, USA, used large genomic databases to test w...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Nature Portfolio
2017-07-01
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| Series: | npj Genomic Medicine |
| Online Access: | https://doi.org/10.1038/s41525-017-0025-4 |
| _version_ | 1818682691240853504 |
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| author | Mykyta Artomov Manuel A. Rivas Giulio Genovese Mark J. Daly |
| author_facet | Mykyta Artomov Manuel A. Rivas Giulio Genovese Mark J. Daly |
| author_sort | Mykyta Artomov |
| collection | DOAJ |
| description | Cancer: Blood mutations linked to solid tumor risk Increased risk for solid tumors linked to mutations detected in blood samples that shorten the coding sequence of their genes. Mark Daly and colleagues from the Broad Institute in Cambridge, Massachusetts, USA, used large genomic databases to test whether having blood cells both with and without genetic variants predicted to shorten the encoded protein—a phenomenon known as mosaic protein-truncating variants (PTVs)—was associated with developing a range of solid-tumor cancers. They studied DNA from around 8,000 people with cancer and 6,000 healthy controls. Other studies have shown that mosaic PTVs precede and predict the development of leukemia. In this study, the scientists not only confirmed previous reports linking these variants to breast and ovarian cancer but also extended the association to include tumors of the brain, skin and lungs. These results broadly connect cancer to blood DNA changes. |
| first_indexed | 2024-12-17T10:22:52Z |
| format | Article |
| id | doaj.art-ae9751892af14558bcb4094fc985db7c |
| institution | Directory Open Access Journal |
| issn | 2056-7944 |
| language | English |
| last_indexed | 2024-12-17T10:22:52Z |
| publishDate | 2017-07-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | npj Genomic Medicine |
| spelling | doaj.art-ae9751892af14558bcb4094fc985db7c2022-12-21T21:52:44ZengNature Portfolionpj Genomic Medicine2056-79442017-07-01211510.1038/s41525-017-0025-4Mosaic mutations in blood DNA sequence are associated with solid tumor cancersMykyta Artomov0Manuel A. Rivas1Giulio Genovese2Mark J. Daly3Broad InstituteDepartment of Biomedical Data Science, Stanford UniversityBroad InstituteBroad InstituteCancer: Blood mutations linked to solid tumor risk Increased risk for solid tumors linked to mutations detected in blood samples that shorten the coding sequence of their genes. Mark Daly and colleagues from the Broad Institute in Cambridge, Massachusetts, USA, used large genomic databases to test whether having blood cells both with and without genetic variants predicted to shorten the encoded protein—a phenomenon known as mosaic protein-truncating variants (PTVs)—was associated with developing a range of solid-tumor cancers. They studied DNA from around 8,000 people with cancer and 6,000 healthy controls. Other studies have shown that mosaic PTVs precede and predict the development of leukemia. In this study, the scientists not only confirmed previous reports linking these variants to breast and ovarian cancer but also extended the association to include tumors of the brain, skin and lungs. These results broadly connect cancer to blood DNA changes.https://doi.org/10.1038/s41525-017-0025-4 |
| spellingShingle | Mykyta Artomov Manuel A. Rivas Giulio Genovese Mark J. Daly Mosaic mutations in blood DNA sequence are associated with solid tumor cancers npj Genomic Medicine |
| title | Mosaic mutations in blood DNA sequence are associated with solid tumor cancers |
| title_full | Mosaic mutations in blood DNA sequence are associated with solid tumor cancers |
| title_fullStr | Mosaic mutations in blood DNA sequence are associated with solid tumor cancers |
| title_full_unstemmed | Mosaic mutations in blood DNA sequence are associated with solid tumor cancers |
| title_short | Mosaic mutations in blood DNA sequence are associated with solid tumor cancers |
| title_sort | mosaic mutations in blood dna sequence are associated with solid tumor cancers |
| url | https://doi.org/10.1038/s41525-017-0025-4 |
| work_keys_str_mv | AT mykytaartomov mosaicmutationsinblooddnasequenceareassociatedwithsolidtumorcancers AT manuelarivas mosaicmutationsinblooddnasequenceareassociatedwithsolidtumorcancers AT giuliogenovese mosaicmutationsinblooddnasequenceareassociatedwithsolidtumorcancers AT markjdaly mosaicmutationsinblooddnasequenceareassociatedwithsolidtumorcancers |