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

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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Main Authors: Paolo Peterlongo, Gisella Figlioli, Andrew J. Deans, Fergus J. Couch
Format: Article
Language:English
Published: Nature Publishing Group 2021-09-01
Series:npj Breast Cancer
Online Access:https://doi.org/10.1038/s41523-021-00338-1
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spelling doaj-104eda8a91d541078387d85e7e6c593d2021-10-03T11:45:53ZengNature Publishing Groupnpj Breast Cancer2374-46772021-09-01711310.1038/s41523-021-00338-1Protein truncating variants in FANCM and risk for ER-negative/triple negative breast cancerPaolo Peterlongo0Gisella Figlioli1Andrew J. Deans2Fergus J. Couch3Genome Diagnostics Program, IFOM – The FIRC Institute for Molecular OncologyGenome Diagnostics Program, IFOM – The FIRC Institute for Molecular OncologyGenome Stability Unit, St Vincent’s Institute, FitzroyDepartments of Health Sciences Research, Laboratory Medicine and Pathology, and Oncology, Mayo ClinicFANCM 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.https://doi.org/10.1038/s41523-021-00338-1
collection DOAJ
language English
format Article
sources DOAJ
author Paolo Peterlongo
Gisella Figlioli
Andrew J. Deans
Fergus J. Couch
spellingShingle Paolo Peterlongo
Gisella Figlioli
Andrew J. Deans
Fergus J. Couch
Protein truncating variants in FANCM and risk for ER-negative/triple negative breast cancer
npj Breast Cancer
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 Publishing Group
series npj Breast Cancer
issn 2374-4677
publishDate 2021-09-01
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.
url https://doi.org/10.1038/s41523-021-00338-1
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AT gisellafiglioli proteintruncatingvariantsinfancmandriskforernegativetriplenegativebreastcancer
AT andrewjdeans proteintruncatingvariantsinfancmandriskforernegativetriplenegativebreastcancer
AT fergusjcouch proteintruncatingvariantsinfancmandriskforernegativetriplenegativebreastcancer
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