Gueiderikh Anna, Rosselli Filippo, Neto Januario B C
UMR8200 - CNRS, Équipe labellisée La Ligue contre le Cancer, Villejuif, France.
Gustave Roussy Cancer Center, Villejuif, France.
Genet Mol Biol. 2017 Apr-Jun;40(2):398-407. doi: 10.1590/1678-4685-GMB-2016-0213. Epub 2017 May 29.
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.
在呈现癌症易感性的染色体脆性相关人类综合征中，范可尼贫血（FA）因其巨大的遗传异质性而独具特色。迄今为止，21个基因的突变已与FA或FA样临床及细胞表型相关联，其特征为骨髓衰竭、易患急性髓系白血病以及细胞和染色体对DNA交联剂暴露高度敏感。本综述的目的是追溯FA基因的鉴定历程，这一历程始于20世纪80年代，至今仍未结束，2016年第21个FA基因的克隆就表明了这一点。
