High-throughput functional evaluation of BRCA2 variants of unknown significance

Many germline variants are found in the BRCA2 gene, some of which pre-dispose women to breast and ovarian cancer. Here, the authors develop a method to determine the functional significance of BRCA2 variants and show that it is comparable to the IARC system of classifying variants.

Guardado en:

Detalles Bibliográficos
Autores principales:	Masachika Ikegami, Shinji Kohsaka, Toshihide Ueno, Yukihide Momozawa, Satoshi Inoue, Kenji Tamura, Akihiko Shimomura, Noriko Hosoya, Hiroshi Kobayashi, Sakae Tanaka, Hiroyuki Mano
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2020
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/232e6a0f6eaf4785a36ff58421838450
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:232e6a0f6eaf4785a36ff58421838450
record_format	dspace
spelling	oai:doaj.org-article:232e6a0f6eaf4785a36ff584218384502021-12-02T15:45:13ZHigh-throughput functional evaluation of BRCA2 variants of unknown significance10.1038/s41467-020-16141-82041-1723https://doaj.org/article/232e6a0f6eaf4785a36ff584218384502020-05-01T00:00:00Zhttps://doi.org/10.1038/s41467-020-16141-8https://doaj.org/toc/2041-1723Many germline variants are found in the BRCA2 gene, some of which pre-dispose women to breast and ovarian cancer. Here, the authors develop a method to determine the functional significance of BRCA2 variants and show that it is comparable to the IARC system of classifying variants.Masachika IkegamiShinji KohsakaToshihide UenoYukihide MomozawaSatoshi InoueKenji TamuraAkihiko ShimomuraNoriko HosoyaHiroshi KobayashiSakae TanakaHiroyuki ManoNature PortfolioarticleScienceQENNature Communications, Vol 11, Iss 1, Pp 1-13 (2020)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Masachika Ikegami Shinji Kohsaka Toshihide Ueno Yukihide Momozawa Satoshi Inoue Kenji Tamura Akihiko Shimomura Noriko Hosoya Hiroshi Kobayashi Sakae Tanaka Hiroyuki Mano High-throughput functional evaluation of BRCA2 variants of unknown significance
description	Many germline variants are found in the BRCA2 gene, some of which pre-dispose women to breast and ovarian cancer. Here, the authors develop a method to determine the functional significance of BRCA2 variants and show that it is comparable to the IARC system of classifying variants.
format	article
author	Masachika Ikegami Shinji Kohsaka Toshihide Ueno Yukihide Momozawa Satoshi Inoue Kenji Tamura Akihiko Shimomura Noriko Hosoya Hiroshi Kobayashi Sakae Tanaka Hiroyuki Mano
author_facet	Masachika Ikegami Shinji Kohsaka Toshihide Ueno Yukihide Momozawa Satoshi Inoue Kenji Tamura Akihiko Shimomura Noriko Hosoya Hiroshi Kobayashi Sakae Tanaka Hiroyuki Mano
author_sort	Masachika Ikegami
title	High-throughput functional evaluation of BRCA2 variants of unknown significance
title_short	High-throughput functional evaluation of BRCA2 variants of unknown significance
title_full	High-throughput functional evaluation of BRCA2 variants of unknown significance
title_fullStr	High-throughput functional evaluation of BRCA2 variants of unknown significance
title_full_unstemmed	High-throughput functional evaluation of BRCA2 variants of unknown significance
title_sort	high-throughput functional evaluation of brca2 variants of unknown significance
publisher	Nature Portfolio
publishDate	2020
url	https://doaj.org/article/232e6a0f6eaf4785a36ff58421838450
work_keys_str_mv	AT masachikaikegami highthroughputfunctionalevaluationofbrca2variantsofunknownsignificance AT shinjikohsaka highthroughputfunctionalevaluationofbrca2variantsofunknownsignificance AT toshihideueno highthroughputfunctionalevaluationofbrca2variantsofunknownsignificance AT yukihidemomozawa highthroughputfunctionalevaluationofbrca2variantsofunknownsignificance AT satoshiinoue highthroughputfunctionalevaluationofbrca2variantsofunknownsignificance AT kenjitamura highthroughputfunctionalevaluationofbrca2variantsofunknownsignificance AT akihikoshimomura highthroughputfunctionalevaluationofbrca2variantsofunknownsignificance AT norikohosoya highthroughputfunctionalevaluationofbrca2variantsofunknownsignificance AT hiroshikobayashi highthroughputfunctionalevaluationofbrca2variantsofunknownsignificance AT sakaetanaka highthroughputfunctionalevaluationofbrca2variantsofunknownsignificance AT hiroyukimano highthroughputfunctionalevaluationofbrca2variantsofunknownsignificance
_version_	1718385737049571328

High-throughput functional evaluation of BRCA2 variants of unknown significance

Ejemplares similares