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...

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Autores principales: Mykyta Artomov, Manuel A. Rivas, Giulio Genovese, Mark J. Daly
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2017
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Acceso en línea:https://doaj.org/article/ae9751892af14558bcb4094fc985db7c
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spelling oai:doaj.org-article:ae9751892af14558bcb4094fc985db7c2021-12-02T12:34:18ZMosaic mutations in blood DNA sequence are associated with solid tumor cancers10.1038/s41525-017-0025-42056-7944https://doaj.org/article/ae9751892af14558bcb4094fc985db7c2017-07-01T00:00:00Zhttps://doi.org/10.1038/s41525-017-0025-4https://doaj.org/toc/2056-7944Cancer: 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.Mykyta ArtomovManuel A. RivasGiulio GenoveseMark J. DalyNature PortfolioarticleMedicineRGeneticsQH426-470ENnpj Genomic Medicine, Vol 2, Iss 1, Pp 1-5 (2017)
institution DOAJ
collection DOAJ
language EN
topic Medicine
R
Genetics
QH426-470
spellingShingle Medicine
R
Genetics
QH426-470
Mykyta Artomov
Manuel A. Rivas
Giulio Genovese
Mark J. Daly
Mosaic mutations in blood DNA sequence are associated with solid tumor cancers
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.
format article
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
title 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_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_sort mosaic mutations in blood dna sequence are associated with solid tumor cancers
publisher Nature Portfolio
publishDate 2017
url https://doaj.org/article/ae9751892af14558bcb4094fc985db7c
work_keys_str_mv AT mykytaartomov mosaicmutationsinblooddnasequenceareassociatedwithsolidtumorcancers
AT manuelarivas mosaicmutationsinblooddnasequenceareassociatedwithsolidtumorcancers
AT giuliogenovese mosaicmutationsinblooddnasequenceareassociatedwithsolidtumorcancers
AT markjdaly mosaicmutationsinblooddnasequenceareassociatedwithsolidtumorcancers
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