Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes

Around half of the heritability underpinning familial high-grade serous ovarian carcinoma remains unidentified. Here, the authors show that extremely rare protein encoding loss-of-function variants, with a high degree of genetic heterogeneity, may account for some of this missing heritability.

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Autores principales:	Deepak N. Subramanian, Magnus Zethoven, Simone McInerny, James A. Morgan, Simone M. Rowley, Jue Er Amanda Lee, Na Li, Kylie L. Gorringe, Paul A. James, Ian G. Campbell
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2020
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/a521a39eb0dc4d439f6807027b6fe81f
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spelling	oai:doaj.org-article:a521a39eb0dc4d439f6807027b6fe81f2021-12-02T14:25:02ZExome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes10.1038/s41467-020-15461-z2041-1723https://doaj.org/article/a521a39eb0dc4d439f6807027b6fe81f2020-04-01T00:00:00Zhttps://doi.org/10.1038/s41467-020-15461-zhttps://doaj.org/toc/2041-1723Around half of the heritability underpinning familial high-grade serous ovarian carcinoma remains unidentified. Here, the authors show that extremely rare protein encoding loss-of-function variants, with a high degree of genetic heterogeneity, may account for some of this missing heritability.Deepak N. SubramanianMagnus ZethovenSimone McInernyJames A. MorganSimone M. RowleyJue Er Amanda LeeNa LiKylie L. GorringePaul A. JamesIan G. CampbellNature PortfolioarticleScienceQENNature Communications, Vol 11, Iss 1, Pp 1-11 (2020)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Deepak N. Subramanian Magnus Zethoven Simone McInerny James A. Morgan Simone M. Rowley Jue Er Amanda Lee Na Li Kylie L. Gorringe Paul A. James Ian G. Campbell Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes
description	Around half of the heritability underpinning familial high-grade serous ovarian carcinoma remains unidentified. Here, the authors show that extremely rare protein encoding loss-of-function variants, with a high degree of genetic heterogeneity, may account for some of this missing heritability.
format	article
author	Deepak N. Subramanian Magnus Zethoven Simone McInerny James A. Morgan Simone M. Rowley Jue Er Amanda Lee Na Li Kylie L. Gorringe Paul A. James Ian G. Campbell
author_facet	Deepak N. Subramanian Magnus Zethoven Simone McInerny James A. Morgan Simone M. Rowley Jue Er Amanda Lee Na Li Kylie L. Gorringe Paul A. James Ian G. Campbell
author_sort	Deepak N. Subramanian
title	Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes
title_short	Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes
title_full	Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes
title_fullStr	Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes
title_full_unstemmed	Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes
title_sort	exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes
publisher	Nature Portfolio
publishDate	2020
url	https://doaj.org/article/a521a39eb0dc4d439f6807027b6fe81f
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Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes

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