To activate or repress specific genes, chromatin is constantly modified by chromatin-remodeling complexes. Among these complexes, the SWItch/Sucrose Non-Fermenting (SWI/SNF) complex, also referred to as BRG1-Associated Factor (BAF) complex, moves the nucleosome along chromatin using energy provided by ATP hydrolysis. In mammalian organisms, the SWI/SNF complex is composed of 10–15 subunits, depending on cell type, and a defect in one of these subunits can have dramatic consequences. In this review we will focus on the alterations identified in the SWI/SNF (BAF) complex subunits that lead to cancerous pathologies. While SMARCB1 was the first mutated subunit to be reported in a majority of malignant rhabdoid tumors, the advent of next-generation sequencing allowed the discovery of mutations in various SWI/SNF subunits within a broad spectrum of cancers. In most cases, the mutation leads to a loss of expression or to a truncated subunit unable to perform its function. Even though it is now commonly acknowledged that approximately 20% of all cancers present a mutation in a SWI/SNF subunit, some cancers are associated to a specific alteration of a SWI/SNF subunit, which acts either as tumor suppressor genes or as oncogenes, and therefore constitute diagnostic or prognostic biomarkers. Consistently, therapeutic strategies targeting SWI/SNF subunits or the genes affected downstream have been revealed to treat cancers.

为了激活或抑制特定基因，染色质可以通过染色质重塑复合物进行不断修饰。在这些复合物中，SWItch /蔗糖非发酵（SWI / SNF）复合物，也称为BRG1相关因子（BAF）复合物，利用ATP水解提供的能量使核小体沿染色质移动。在哺乳动物生物体中，SWI / SNF复合体由10–15个亚基组成，具体取决于细胞类型，这些亚基之一的缺陷可能会产生严重后果。在这篇综述中，我们将重点研究SWI / SNF（BAF）复杂亚基中鉴定出的导致癌症病理的改变。尽管SMARCB1是大多数恶性横纹肌瘤中第一个被报道的突变亚基，下一代测序技术的出现允许在广泛的癌症中发现各种SWI / SNF亚基的突变。在大多数情况下，突变会导致表达丧失或导致无法执行其功能的截短的亚基。尽管现在通常公认的是，所有癌症中约有20％在SWI / SNF亚基中出现突变，但是某些癌症与SWI / SNF亚基的特定改变有关，后者既可以作为抑癌基因，也可以作为癌基因，因此构成了诊断或预后生物标志物。一致地，已经发现靶向SWI / SNF亚基或下游受影响基因的治疗策略可以治疗癌症。尽管现在通常公认的是，所有癌症中约有20％在SWI / SNF亚基中出现突变，但有些癌症与SWI / SNF亚基的特定改变有关，后者既可以作为抑癌基因，也可以作为癌基因，因此构成了诊断或预后生物标志物。一致地，已经发现靶向SWI / SNF亚基或下游受影响基因的治疗策略可治疗癌症。尽管现在通常公认的是，所有癌症中约有20％在SWI / SNF亚基中出现突变，但有些癌症与SWI / SNF亚基的特定改变有关，后者既可以作为抑癌基因，也可以作为癌基因，因此构成了诊断或预后生物标志物。一致地，已经发现靶向SWI / SNF亚基或下游受影响基因的治疗策略可以治疗癌症。