FANCA是抑癌基因,编码蛋白为参与DNA损伤修复的FANC的一个组分。来自范可尼贫血(FA)患者和髓样白血病细胞系的细胞显示对DNA交联剂的超敏反应。虽然FANCA具有广泛的突变类型,但已表明,不同类型的预后价值不大。FANCA的胚系突变与范可尼贫血有关并且易患乳腺癌。
FANCA is a tumor suppressor and DNA repair protein. While FANCA is subject to wide variety of mutational types, it has been suggested that there is little prognostic value in the different types as evidenced by no clinical differences in the onset of hematologic disease in patients with a lack of FANCA expression and those which a mutated form of the protein. Cells from Fanconi Anemia (FA) patients and the myeloid leukemia cell line (UoC-M1) show hypersensitivity to DNA cross-linking agents .Germline mutations of FANCA are associated with the cancer predisposition syndrome Fanconi Anemia.
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