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

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

Abstract 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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Main Authors: Gueiderikh,Anna, Rosselli,Filippo, Neto,Januario B.C.
Format: Digital revista
Language:English
Published: Sociedade Brasileira de Genética 2017
Online Access:http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000300398
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spelling oai:scielo:S1415-475720170003003982017-06-28A never-ending story: the steadily growing family of the FA and FA-like genesGueiderikh,AnnaRosselli,FilippoNeto,Januario B.C. DNA repair leukemia Fanconi anemia chromosomal abnormalities Abstract 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.info:eu-repo/semantics/openAccessSociedade Brasileira de GenéticaGenetics and Molecular Biology v.40 n.2 20172017-06-01info:eu-repo/semantics/articletext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000300398en10.1590/1678-4685-gmb-2016-0213
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country Brasil
countrycode BR
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databasecode rev-scielo-br
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region America del Sur
libraryname SciELO
language English
format Digital
author Gueiderikh,Anna
Rosselli,Filippo
Neto,Januario B.C.
spellingShingle Gueiderikh,Anna
Rosselli,Filippo
Neto,Januario B.C.
A never-ending story: the steadily growing family of the FA and FA-like genes
author_facet Gueiderikh,Anna
Rosselli,Filippo
Neto,Januario B.C.
author_sort Gueiderikh,Anna
title 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_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_sort never-ending story: the steadily growing family of the fa and fa-like genes
description Abstract 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.
publisher Sociedade Brasileira de Genética
publishDate 2017
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000300398
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AT rossellifilippo neverendingstorythesteadilygrowingfamilyofthefaandfalikegenes
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