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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Sociedade Brasileira de Genética
2017
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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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Gueiderikh,Anna Rosselli,Filippo Neto,Januario B.C. |
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Gueiderikh,Anna Rosselli,Filippo Neto,Januario B.C. A never-ending story: the steadily growing family of the FA and FA-like genes |
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Gueiderikh,Anna Rosselli,Filippo Neto,Januario B.C. |
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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. |
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Sociedade Brasileira de Genética |
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2017 |
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http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000300398 |
work_keys_str_mv |
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1756419248051191808 |