Mutations targeting the coagulation pathway are enriched in brain metastases

Abstract Brain metastases (BMs) are the most common malignancy of the central nervous system. Recently it has been demonstrated that plasminogen activator inhibitor serpins promote brain metastatic colonization, suggesting that mutations in serpins or other members of the coagulation cascade can pro...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	Cristina Richichi, Lorenzo Fornasari, Giorgio E. M. Melloni, Paola Brescia, Monica Patanè, Massimiliano Del Bene, Dana A. M. Mustafa, Johan M. Kros, Bianca Pollo, Giancarlo Pruneri, Angela Sciandivasci, Elisabetta Munzone, Francesco DiMeco, Pier Giuseppe Pelicci, Laura Riva, Giuliana Pelicci
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2017
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/a0eaf788c4784e3b8d5d5bc618c6c73f
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:a0eaf788c4784e3b8d5d5bc618c6c73f
record_format	dspace
spelling	oai:doaj.org-article:a0eaf788c4784e3b8d5d5bc618c6c73f2021-12-02T12:30:18ZMutations targeting the coagulation pathway are enriched in brain metastases10.1038/s41598-017-06811-x2045-2322https://doaj.org/article/a0eaf788c4784e3b8d5d5bc618c6c73f2017-07-01T00:00:00Zhttps://doi.org/10.1038/s41598-017-06811-xhttps://doaj.org/toc/2045-2322Abstract Brain metastases (BMs) are the most common malignancy of the central nervous system. Recently it has been demonstrated that plasminogen activator inhibitor serpins promote brain metastatic colonization, suggesting that mutations in serpins or other members of the coagulation cascade can provide critical advantages during BM formation. We performed whole-exome sequencing on matched samples of breast cancer and BMs and found mutations in the coagulation pathway genes in 5 out of 10 BM samples. We then investigated the mutational status of 33 genes belonging to the coagulation cascade in a panel of 29 BMs and we identified 56 Single Nucleotide Variants (SNVs). The frequency of gene mutations of the pathway was significantly higher in BMs than in primary tumours, and SERPINI1 was the most frequently mutated gene in BMs. These findings provide direction in the development of new strategies for the treatment of BMs.Cristina RichichiLorenzo FornasariGiorgio E. M. MelloniPaola BresciaMonica PatanèMassimiliano Del BeneDana A. M. MustafaJohan M. KrosBianca PolloGiancarlo PruneriAngela SciandivasciElisabetta MunzoneFrancesco DiMecoPier Giuseppe PelicciLaura RivaGiuliana PelicciNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 7, Iss 1, Pp 1-6 (2017)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Cristina Richichi Lorenzo Fornasari Giorgio E. M. Melloni Paola Brescia Monica Patanè Massimiliano Del Bene Dana A. M. Mustafa Johan M. Kros Bianca Pollo Giancarlo Pruneri Angela Sciandivasci Elisabetta Munzone Francesco DiMeco Pier Giuseppe Pelicci Laura Riva Giuliana Pelicci Mutations targeting the coagulation pathway are enriched in brain metastases
description	Abstract Brain metastases (BMs) are the most common malignancy of the central nervous system. Recently it has been demonstrated that plasminogen activator inhibitor serpins promote brain metastatic colonization, suggesting that mutations in serpins or other members of the coagulation cascade can provide critical advantages during BM formation. We performed whole-exome sequencing on matched samples of breast cancer and BMs and found mutations in the coagulation pathway genes in 5 out of 10 BM samples. We then investigated the mutational status of 33 genes belonging to the coagulation cascade in a panel of 29 BMs and we identified 56 Single Nucleotide Variants (SNVs). The frequency of gene mutations of the pathway was significantly higher in BMs than in primary tumours, and SERPINI1 was the most frequently mutated gene in BMs. These findings provide direction in the development of new strategies for the treatment of BMs.
format	article
author	Cristina Richichi Lorenzo Fornasari Giorgio E. M. Melloni Paola Brescia Monica Patanè Massimiliano Del Bene Dana A. M. Mustafa Johan M. Kros Bianca Pollo Giancarlo Pruneri Angela Sciandivasci Elisabetta Munzone Francesco DiMeco Pier Giuseppe Pelicci Laura Riva Giuliana Pelicci
author_facet	Cristina Richichi Lorenzo Fornasari Giorgio E. M. Melloni Paola Brescia Monica Patanè Massimiliano Del Bene Dana A. M. Mustafa Johan M. Kros Bianca Pollo Giancarlo Pruneri Angela Sciandivasci Elisabetta Munzone Francesco DiMeco Pier Giuseppe Pelicci Laura Riva Giuliana Pelicci
author_sort	Cristina Richichi
title	Mutations targeting the coagulation pathway are enriched in brain metastases
title_short	Mutations targeting the coagulation pathway are enriched in brain metastases
title_full	Mutations targeting the coagulation pathway are enriched in brain metastases
title_fullStr	Mutations targeting the coagulation pathway are enriched in brain metastases
title_full_unstemmed	Mutations targeting the coagulation pathway are enriched in brain metastases
title_sort	mutations targeting the coagulation pathway are enriched in brain metastases
publisher	Nature Portfolio
publishDate	2017
url	https://doaj.org/article/a0eaf788c4784e3b8d5d5bc618c6c73f
work_keys_str_mv	AT cristinarichichi mutationstargetingthecoagulationpathwayareenrichedinbrainmetastases AT lorenzofornasari mutationstargetingthecoagulationpathwayareenrichedinbrainmetastases AT giorgioemmelloni mutationstargetingthecoagulationpathwayareenrichedinbrainmetastases AT paolabrescia mutationstargetingthecoagulationpathwayareenrichedinbrainmetastases AT monicapatane mutationstargetingthecoagulationpathwayareenrichedinbrainmetastases AT massimilianodelbene mutationstargetingthecoagulationpathwayareenrichedinbrainmetastases AT danaammustafa mutationstargetingthecoagulationpathwayareenrichedinbrainmetastases AT johanmkros mutationstargetingthecoagulationpathwayareenrichedinbrainmetastases AT biancapollo mutationstargetingthecoagulationpathwayareenrichedinbrainmetastases AT giancarlopruneri mutationstargetingthecoagulationpathwayareenrichedinbrainmetastases AT angelasciandivasci mutationstargetingthecoagulationpathwayareenrichedinbrainmetastases AT elisabettamunzone mutationstargetingthecoagulationpathwayareenrichedinbrainmetastases AT francescodimeco mutationstargetingthecoagulationpathwayareenrichedinbrainmetastases AT piergiuseppepelicci mutationstargetingthecoagulationpathwayareenrichedinbrainmetastases AT laurariva mutationstargetingthecoagulationpathwayareenrichedinbrainmetastases AT giulianapelicci mutationstargetingthecoagulationpathwayareenrichedinbrainmetastases
_version_	1718394413736001536

Mutations targeting the coagulation pathway are enriched in brain metastases

Ejemplares similares