AT-rich interaction domain 1 (ARID1A) 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 inARID1Ahave 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.ARID1Amutations 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 ofARID1Amutations 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结合域1（ARID1A）是胃肠道肿瘤中具有重要作用的关键基因，其编码的蛋白质称为BAF250a或SMARCF1，是SWI/SNF染色质重塑复合体的核心组成部分。该复合体通过改变染色质结构来调控DNA的可及性，从而在基因表达调控中发挥关键作用。ARID1A基因突变已在多种胃肠道癌症中被发现，包括结直肠癌、胃癌和胰腺癌。这些突变可能破坏SWI/SNF复合体的正常功能，导致基因表达异常，进而促进这些恶性肿瘤的发生与发展。在胃癌中，ARID1A突变较为常见，尤其在某些特定的腺癌亚型中。此外，此类突变更常见于特定的分子亚型，如微卫星稳定（MSS）型癌症和弥漫型组织学亚型。了解ARID1A突变在胃癌中的存在及其临床意义对于制定个体化治疗策略和评估预后至关重要，特别是考虑到其在预测患者对新型治疗策略（包括免疫治疗、聚腺苷二磷酸核糖聚合酶（PARP）抑制剂、哺乳动物雷帕霉素靶蛋白（mTOR）抑制剂以及zeste基因增强子同源物2（EZH2）抑制剂）的应答方面具有潜在价值。
肿瘤(癌症)患者之家