Sellick Gabrielle S, Catovsky Daniel, Houlston Richard S
Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, UK.
Semin Oncol. 2006 Apr;33(2):195-201. doi: 10.1053/j.seminoncol.2006.01.013.
The role of inherited genetic factors in the etiology of chronic lymphocytic leukemia (CLL) and other B-cell lymphoproliferative disorders (LPDs) is now well established. Significant familial aggregation of CLL and B-cell LPDs has been demonstrated, but the mode of inheritance is unknown. Identifying genes that when mutated confer an increased risk of these diseases is of immediate clinical relevance in terms of primary and secondary interventions. Furthermore, their identification provides for a greater understanding of the mechanisms of B-cell tumorigenesis in general. Here we review the current status of knowledge relating to inherited susceptibility to CLL and the strategies that are being employed to identify disease-causing mutations.
遗传因素在慢性淋巴细胞白血病（CLL）及其他B细胞淋巴增殖性疾病（LPD）病因学中的作用现已明确。CLL和B细胞LPD存在显著的家族聚集现象，但遗传方式尚不清楚。识别发生突变时会增加这些疾病风险的基因，在一级和二级干预方面具有直接的临床意义。此外，对这些基因的识别有助于更全面地了解B细胞肿瘤发生的一般机制。在此，我们综述了与CLL遗传易感性相关的现有知识状况，以及用于识别致病突变的策略。
