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: Peterlongo, Paolo, Figlioli, Gisella, Deans, Andrew J., Couch, Fergus J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Comment
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8478958/
https://www.ncbi.nlm.nih.gov/pubmed/34584094
http://dx.doi.org/10.1038/s41523-021-00338-1
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author Peterlongo, Paolo
Figlioli, Gisella
Deans, Andrew J.
Couch, Fergus J.
author_facet Peterlongo, Paolo
Figlioli, Gisella
Deans, Andrew J.
Couch, Fergus J.
author_sort Peterlongo, Paolo
collection PubMed
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.
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spelling pubmed-84789582021-10-08 Protein truncating variants in FANCM and risk for ER-negative/triple negative breast cancer Peterlongo, Paolo Figlioli, Gisella Deans, Andrew J. Couch, Fergus J. NPJ Breast Cancer Comment 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. Nature Publishing Group UK 2021-09-28 /pmc/articles/PMC8478958/ /pubmed/34584094 http://dx.doi.org/10.1038/s41523-021-00338-1 Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Comment
Peterlongo, Paolo
Figlioli, Gisella
Deans, Andrew J.
Couch, Fergus J.
Protein truncating variants in FANCM and risk for ER-negative/triple negative breast cancer
title 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_short 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
topic Comment
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8478958/
https://www.ncbi.nlm.nih.gov/pubmed/34584094
http://dx.doi.org/10.1038/s41523-021-00338-1
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