A never-ending story: the steadily growing family of the FA and FA-like genes

Among the chromosome fragility-associated human syndromes that present cancer predisposition, Fanconi anemia (FA) is unique due to its large genetic heterogeneity. To date, mutations in 21 genes have been associated with an FA or an FA-like clinical and cellular phenotype, whose hallmarks are bone m...

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Autores principales: Gueiderikh, Anna, Rosselli, Filippo, Neto, Januario B.C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Genética 2017
Materias:
Reviews
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5488462/
https://www.ncbi.nlm.nih.gov/pubmed/28558075
http://dx.doi.org/10.1590/1678-4685-GMB-2016-0213
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author Gueiderikh, Anna
Rosselli, Filippo
Neto, Januario B.C.
author_facet Gueiderikh, Anna
Rosselli, Filippo
Neto, Januario B.C.
author_sort Gueiderikh, Anna
collection PubMed
description Among the chromosome fragility-associated human syndromes that present cancer predisposition, Fanconi anemia (FA) is unique due to its large genetic heterogeneity. To date, mutations in 21 genes have been associated with an FA or an FA-like clinical and cellular phenotype, whose hallmarks are bone marrow failure, predisposition to acute myeloid leukemia and a cellular and chromosomal hypersensitivity to DNA crosslinking agents exposure. The goal of this review is to trace the history of the identification of FA genes, a history that started in the eighties and is not yet over, as indicated by the cloning of a twenty-first FA gene in 2016.
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spelling pubmed-54884622017-07-11 A never-ending story: the steadily growing family of the FA and FA-like genes Gueiderikh, Anna Rosselli, Filippo Neto, Januario B.C. Genet Mol Biol Reviews Among the chromosome fragility-associated human syndromes that present cancer predisposition, Fanconi anemia (FA) is unique due to its large genetic heterogeneity. To date, mutations in 21 genes have been associated with an FA or an FA-like clinical and cellular phenotype, whose hallmarks are bone marrow failure, predisposition to acute myeloid leukemia and a cellular and chromosomal hypersensitivity to DNA crosslinking agents exposure. The goal of this review is to trace the history of the identification of FA genes, a history that started in the eighties and is not yet over, as indicated by the cloning of a twenty-first FA gene in 2016. Sociedade Brasileira de Genética 2017-05-29 2017 /pmc/articles/PMC5488462/ /pubmed/28558075 http://dx.doi.org/10.1590/1678-4685-GMB-2016-0213 Text en Copyright © 2017, Sociedade Brasileira de Genética. http://creativecommons.org/licenses/by/4.0/ License information: This is an open-access article distributed under the terms of the Creative Commons Attribution License (type CC-BY), which permits unrestricted use, distribution and reproduction in any medium, provided the original article is properly cited.
spellingShingle Reviews
Gueiderikh, Anna
Rosselli, Filippo
Neto, Januario B.C.
A never-ending story: the steadily growing family of the FA and FA-like genes
title A never-ending story: the steadily growing family of the FA and FA-like genes
title_full A never-ending story: the steadily growing family of the FA and FA-like genes
title_fullStr A never-ending story: the steadily growing family of the FA and FA-like genes
title_full_unstemmed A never-ending story: the steadily growing family of the FA and FA-like genes
title_short A never-ending story: the steadily growing family of the FA and FA-like genes
title_sort never-ending story: the steadily growing family of the fa and fa-like genes
topic Reviews
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5488462/
https://www.ncbi.nlm.nih.gov/pubmed/28558075
http://dx.doi.org/10.1590/1678-4685-GMB-2016-0213
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