Protein truncating variants in FANCM and risk for ER-negative/triple negative breast cancer

FANCM protein truncating variants (PTVs) are emerging as risk factors for ER-negative and triple negative breast cancer. Here, we discuss evidence that greatest risk associates with PTVs, such as p.Arg658*, that extensively truncate the 2048 amino acid FANCM protein. Moreover, risks associated with...

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Autores principales:	Paolo Peterlongo, Gisella Figlioli, Andrew J. Deans, Fergus J. Couch
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282
Acceso en línea:	https://doaj.org/article/104eda8a91d541078387d85e7e6c593d
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spelling	oai:doaj.org-article:104eda8a91d541078387d85e7e6c593d2021-12-02T17:18:25ZProtein truncating variants in FANCM and risk for ER-negative/triple negative breast cancer10.1038/s41523-021-00338-12374-4677https://doaj.org/article/104eda8a91d541078387d85e7e6c593d2021-09-01T00:00:00Zhttps://doi.org/10.1038/s41523-021-00338-1https://doaj.org/toc/2374-4677FANCM protein truncating variants (PTVs) are emerging as risk factors for ER-negative and triple negative breast cancer. Here, we discuss evidence that greatest risk associates with PTVs, such as p.Arg658, that extensively truncate the 2048 amino acid FANCM protein. Moreover, risks associated with other less-truncating FANCM PTVs such as p.Gln1701 and p.Gly1906Alafs12* may be amplified by additional gene variants acting as modifiers. Further studies need to be conducted taking into considerations these aspects.Paolo PeterlongoGisella FiglioliAndrew J. DeansFergus J. CouchNature PortfolioarticleNeoplasms. Tumors. Oncology. Including cancer and carcinogensRC254-282ENnpj Breast Cancer, Vol 7, Iss 1, Pp 1-3 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282
spellingShingle	Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282 Paolo Peterlongo Gisella Figlioli Andrew J. Deans Fergus J. Couch Protein truncating variants in FANCM and risk for ER-negative/triple negative breast cancer
description	FANCM protein truncating variants (PTVs) are emerging as risk factors for ER-negative and triple negative breast cancer. Here, we discuss evidence that greatest risk associates with PTVs, such as p.Arg658, that extensively truncate the 2048 amino acid FANCM protein. Moreover, risks associated with other less-truncating FANCM PTVs such as p.Gln1701 and p.Gly1906Alafs12* may be amplified by additional gene variants acting as modifiers. Further studies need to be conducted taking into considerations these aspects.
format	article
author	Paolo Peterlongo Gisella Figlioli Andrew J. Deans Fergus J. Couch
author_facet	Paolo Peterlongo Gisella Figlioli Andrew J. Deans Fergus J. Couch
author_sort	Paolo Peterlongo
title	Protein truncating variants in FANCM and risk for ER-negative/triple negative breast cancer
title_short	Protein truncating variants in FANCM and risk for ER-negative/triple negative breast cancer
title_full	Protein truncating variants in FANCM and risk for ER-negative/triple negative breast cancer
title_fullStr	Protein truncating variants in FANCM and risk for ER-negative/triple negative breast cancer
title_full_unstemmed	Protein truncating variants in FANCM and risk for ER-negative/triple negative breast cancer
title_sort	protein truncating variants in fancm and risk for er-negative/triple negative breast cancer
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/104eda8a91d541078387d85e7e6c593d
work_keys_str_mv	AT paolopeterlongo proteintruncatingvariantsinfancmandriskforernegativetriplenegativebreastcancer AT gisellafiglioli proteintruncatingvariantsinfancmandriskforernegativetriplenegativebreastcancer AT andrewjdeans proteintruncatingvariantsinfancmandriskforernegativetriplenegativebreastcancer AT fergusjcouch proteintruncatingvariantsinfancmandriskforernegativetriplenegativebreastcancer
_version_	1718381067512053760

Protein truncating variants in FANCM and risk for ER-negative/triple negative breast cancer

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