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首页> 外文期刊>Leukemia and lymphoma >Germline mutations in RAD51, RAD51AP1, RAD51B, RAD51C,RAD51D, RAD52 and RAD54L do not contribute to familial chronic lymphocytic leukemia.
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Germline mutations in RAD51, RAD51AP1, RAD51B, RAD51C,RAD51D, RAD52 and RAD54L do not contribute to familial chronic lymphocytic leukemia.

机译：RAD51，RAD51AP1，RAD51B，RAD51C，RAD51D，RAD52和RAD54L中的种系突变不会导致家族性慢性淋巴细胞性白血病。

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摘要

While familial predisposition to B-cell chronic lymphocytic leukemia (CLL) is well recognized no gene which when mutated in the germline has been unambiguously shown to confer susceptibility to the disease. An approach based on mutation screening methods targeted to coding regions of candidate genes offers an attractive strategy for the identification of rare disease-causing alleles. The RAD genes participate in the cellular response to DNA double strand breaks, detecting DNA damage, activating cell cycle checkpoints and apoptosis. Defects in members of these genes are linked to increased chromosomal instability and in lymphoma predisposition, thereby representing strong candidate susceptibility genes a priori. To examine this proposition we screened 75 familial CLL probands for germline mutations in this set of genes. No overt pathogenic mutations were identified. These findings indicate that germline mutations in RAD51, RAD51AP1, RAD51L1, RAD51L3, RAD52 and RAD54L are unlikely to be causal of an inherited predisposition to CLL.
机译：尽管家族性易患B细胞慢性淋巴细胞性白血病（CLL）已广为人知，但没有明确显示出在种系中发生突变的基因可赋予该病易感性。一种基于针对候选基因编码区域的突变筛选方法的方法，为鉴定罕见的致病等位基因提供了一种有吸引力的策略。 RAD基因参与细胞对DNA双链断裂的反应，检测DNA损伤，激活细胞周期检查点和凋亡。这些基因成员的缺陷与染色体不稳定性的增加和淋巴瘤的易感性有关，从而先验地代表了强大的候选易感基因。为了检查这一命题，我们筛选了75个家族性CLL先证者中这套基因的种系突变。没有发现明显的致病突变。这些发现表明，RAD51，RAD51AP1，RAD51L1，RAD51L3，RAD52和RAD54L中的种系突变不太可能是CLL遗传易感性的原因。

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