Expanding cancer predisposition genes with ultra-rare cancer-exclusive human variations

It is estimated that up to 10% of cancer incidents are attributed to inherited genetic alterations. Despite extensive research, there are still gaps in our understanding of genetic predisposition to cancer. It was theorized that ultra-rare variants partially account for the missing heritable compone...

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Autores principales: Rasnic, Roni, Linial, Nathan, Linial, Michal
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7418036/
https://www.ncbi.nlm.nih.gov/pubmed/32778766
http://dx.doi.org/10.1038/s41598-020-70494-0
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author Rasnic, Roni
Linial, Nathan
Linial, Michal
author_facet Rasnic, Roni
Linial, Nathan
Linial, Michal
author_sort Rasnic, Roni
collection PubMed
description It is estimated that up to 10% of cancer incidents are attributed to inherited genetic alterations. Despite extensive research, there are still gaps in our understanding of genetic predisposition to cancer. It was theorized that ultra-rare variants partially account for the missing heritable component. We harness the UK BioBank dataset of ~ 500,000 individuals, 14% of which were diagnosed with cancer, to detect ultra-rare, possibly high-penetrance cancer predisposition variants. We report on 115 cancer-exclusive ultra-rare variations and nominate 26 variants with additional independent evidence as cancer predisposition variants. We conclude that population cohorts are valuable source for expanding the collection of novel cancer predisposition genes.
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spelling pubmed-74180362020-08-13 Expanding cancer predisposition genes with ultra-rare cancer-exclusive human variations Rasnic, Roni Linial, Nathan Linial, Michal Sci Rep Article It is estimated that up to 10% of cancer incidents are attributed to inherited genetic alterations. Despite extensive research, there are still gaps in our understanding of genetic predisposition to cancer. It was theorized that ultra-rare variants partially account for the missing heritable component. We harness the UK BioBank dataset of ~ 500,000 individuals, 14% of which were diagnosed with cancer, to detect ultra-rare, possibly high-penetrance cancer predisposition variants. We report on 115 cancer-exclusive ultra-rare variations and nominate 26 variants with additional independent evidence as cancer predisposition variants. We conclude that population cohorts are valuable source for expanding the collection of novel cancer predisposition genes. Nature Publishing Group UK 2020-08-10 /pmc/articles/PMC7418036/ /pubmed/32778766 http://dx.doi.org/10.1038/s41598-020-70494-0 Text en © The Author(s) 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Article
Rasnic, Roni
Linial, Nathan
Linial, Michal
Expanding cancer predisposition genes with ultra-rare cancer-exclusive human variations
title Expanding cancer predisposition genes with ultra-rare cancer-exclusive human variations
title_full Expanding cancer predisposition genes with ultra-rare cancer-exclusive human variations
title_fullStr Expanding cancer predisposition genes with ultra-rare cancer-exclusive human variations
title_full_unstemmed Expanding cancer predisposition genes with ultra-rare cancer-exclusive human variations
title_short Expanding cancer predisposition genes with ultra-rare cancer-exclusive human variations
title_sort expanding cancer predisposition genes with ultra-rare cancer-exclusive human variations
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7418036/
https://www.ncbi.nlm.nih.gov/pubmed/32778766
http://dx.doi.org/10.1038/s41598-020-70494-0
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