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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Detalles Bibliográficos
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:
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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
Descripción
Sumario: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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