BLM是抑癌基因，编码蛋白为DNA解旋酶，通过在多种细胞功能期间解开双链DNA中间体起作用，包含通过同源重组修复双链断裂、端粒维持和复制。BLM基因表达受细胞周期调节，并且已显示BLM与泛素连接酶E3 Mindbomb 1（MIB1）和高度保守的DNA拓扑异构酶2β结合蛋白1（TopBP1）（PMID：24239288）相互作用。BLM的解旋酶活性对于保持基因组保真度是至关重要的，并且有害突变导致跨多种组织类型的广谱癌症的强易感性，通常表征为高度侵袭性并且在生命早期发生。BLM胚系突变导致罕见的Bloom综合征（BS)，BS是一种常染色体隐性遗传病，其特征是严重的染色体不稳定性和癌症风险增加。BLM杂合胚系有害突变与乳腺癌和结直肠癌的风险增加相关，尽管后者具有中度外显率。 BLM体细胞突变在人类癌症中比较罕见，但已经在具有微卫星不稳定性的结直肠癌中鉴定出BLM的截短突变。

BLM (also Bloom syndrome protein) is a DNA helicase that functions by unwinding double-stranded DNA intermediates during multiple cellular functions, including double-strand break repair by homologous recombination, telomere maintenance and replication. BLM gene expression is cell cycle regulated and BLM has been shown to interact with the E3 ubiquitin-protein ligase Mindbomb 1 (MIB1) and a highly conserved DNA topoisomerase 2β-binding protein 1 (TopBP1). The helicase activity of BLM is critical for preserving the fidelity of the genome, and deleterious mutations result in a strong predisposition for a broad spectrum of cancers across multiple tissue types, generally characterized as highly aggressive and occurring early in life. Germline mutations in BLM lead to the rare genetic disorder Bloom syndrome (BS), an autosomal recessive disorder characterized by severe chromosomal instability and increased cancer risk. Heterozygous inherited deleterious mutations in BLM have been associated with an increased risk for breast cancer and colorectal cancers, albeit with a moderate penetrance for the latter. Somatic mutations in BLM are rare in human cancers, however, truncating mutations in BLM have been identified in colorectal cancers with a microsatellite instability.

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