Angelico Giuseppe, Attanasio Giulio, Colarossi Lorenzo, Colarossi Cristina, Montalbano Matteo, Aiello Eleonora, Di Vendra Federica, Mare Marzia, Orsi Nicolas, Memeo Lorenzo
Department of Medicine and Surgery, Kore University of Enna, 94100 Enna, Italy.
Department of Medical, Surgical Sciences and Advanced Technologies G.F. Ingrassia, Anatomic Pathology, University of Catania, 95123 Catania, Italy.
Cancers (Basel). 2024 May 30;16(11):2062. doi: 10.3390/cancers16112062.
AT-rich interaction domain 1 () is a pivotal gene with a significant role in gastrointestinal tumors which encodes a protein referred to as BAF250a or SMARCF1, an integral component of the SWI/SNF (SWItch/sucrose non-fermentable) chromatin remodeling complex. This complex is instrumental in regulating gene expression by modifying the structure of chromatin to affect the accessibility of DNA. Mutations in have been identified in various gastrointestinal cancers, including colorectal, gastric, and pancreatic cancers. These mutations have the potential to disrupt normal SWI/SNF complex function, resulting in aberrant gene expression and potentially contributing to the initiation and progression of these malignancies. mutations are relatively common in gastric cancer, particularly in specific adenocarcinoma subtypes. Moreover, such mutations are more frequently observed in specific molecular subtypes, such as microsatellite stable (MSS) cancers and those with a diffuse histological subtype. Understanding the presence and implications of mutations in GC is of paramount importance for tailoring personalized treatment strategies and assessing prognosis, particularly given their potential in predicting patient response to novel treatment strategies including immunotherapy, poly(ADP) ribose polymerase (PARP) inhibitors, mammalian target of rapamycin (mTOR) inhibitors, and enhancer of zeste 2 polycomb repressive complex 2 subunit (EZH2) inhibitors.
富含AT的相互作用结构域1（）是一种关键基因，在胃肠道肿瘤中发挥重要作用，它编码一种名为BAF250a或SMARCF1的蛋白质，是SWI/SNF（SWItch/蔗糖非发酵）染色质重塑复合体的一个组成部分。该复合体通过修饰染色质结构来影响DNA的可及性，从而在调节基因表达方面发挥作用。在包括结直肠癌、胃癌和胰腺癌在内的各种胃肠道癌症中都已发现了的突变。这些突变有可能破坏正常的SWI/SNF复合体功能，导致异常的基因表达，并可能促使这些恶性肿瘤的发生和发展。突变在胃癌中相对常见，尤其是在特定的腺癌亚型中。此外，这种突变在特定的分子亚型中更常见，如微卫星稳定（MSS）癌症和具有弥漫性组织学亚型的癌症。了解胃癌中突变的存在及其影响对于制定个性化治疗策略和评估预后至关重要，特别是考虑到它们在预测患者对包括免疫疗法、聚（ADP）核糖聚合酶（PARP）抑制剂、雷帕霉素哺乳动物靶点（mTOR）抑制剂和zeste 2多梳抑制复合体2亚基（EZH2）抑制剂等新型治疗策略的反应方面的潜力。
