Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2

PALB2 is an established breast cancer risk gene but the pathogenicity of many variants remains uncharacterised. Here, the authors present a cDNA-based system for the functional analysis of PALB2 variants of unknown significance.

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Autores principales:	Rick A. C. M. Boonen, Amélie Rodrigue, Chantal Stoepker, Wouter W. Wiegant, Bas Vroling, Milan Sharma, Magdalena B. Rother, Nandi Celosse, Maaike P. G. Vreeswijk, Fergus Couch, Jacques Simard, Peter Devilee, Jean-Yves Masson, Haico van Attikum
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2019
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/1494cb25245145e3baee045ab9de1c81
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spelling	oai:doaj.org-article:1494cb25245145e3baee045ab9de1c812021-12-02T16:57:22ZFunctional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB210.1038/s41467-019-13194-22041-1723https://doaj.org/article/1494cb25245145e3baee045ab9de1c812019-11-01T00:00:00Zhttps://doi.org/10.1038/s41467-019-13194-2https://doaj.org/toc/2041-1723PALB2 is an established breast cancer risk gene but the pathogenicity of many variants remains uncharacterised. Here, the authors present a cDNA-based system for the functional analysis of PALB2 variants of unknown significance.Rick A. C. M. BoonenAmélie RodrigueChantal StoepkerWouter W. WiegantBas VrolingMilan SharmaMagdalena B. RotherNandi CelosseMaaike P. G. VreeswijkFergus CouchJacques SimardPeter DevileeJean-Yves MassonHaico van AttikumNature PortfolioarticleScienceQENNature Communications, Vol 10, Iss 1, Pp 1-15 (2019)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Rick A. C. M. Boonen Amélie Rodrigue Chantal Stoepker Wouter W. Wiegant Bas Vroling Milan Sharma Magdalena B. Rother Nandi Celosse Maaike P. G. Vreeswijk Fergus Couch Jacques Simard Peter Devilee Jean-Yves Masson Haico van Attikum Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2
description	PALB2 is an established breast cancer risk gene but the pathogenicity of many variants remains uncharacterised. Here, the authors present a cDNA-based system for the functional analysis of PALB2 variants of unknown significance.
format	article
author	Rick A. C. M. Boonen Amélie Rodrigue Chantal Stoepker Wouter W. Wiegant Bas Vroling Milan Sharma Magdalena B. Rother Nandi Celosse Maaike P. G. Vreeswijk Fergus Couch Jacques Simard Peter Devilee Jean-Yves Masson Haico van Attikum
author_facet	Rick A. C. M. Boonen Amélie Rodrigue Chantal Stoepker Wouter W. Wiegant Bas Vroling Milan Sharma Magdalena B. Rother Nandi Celosse Maaike P. G. Vreeswijk Fergus Couch Jacques Simard Peter Devilee Jean-Yves Masson Haico van Attikum
author_sort	Rick A. C. M. Boonen
title	Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2
title_short	Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2
title_full	Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2
title_fullStr	Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2
title_full_unstemmed	Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2
title_sort	functional analysis of genetic variants in the high-risk breast cancer susceptibility gene palb2
publisher	Nature Portfolio
publishDate	2019
url	https://doaj.org/article/1494cb25245145e3baee045ab9de1c81
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Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2

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