In 2011, Varela et al. reported that the PBRM1 gene is mutated in approximately 40% of clear cell renal cell carcinoma cases. Since then, the number of studies relating PBRM1 mutations to cancers has substantially increased. BAF180 has now been linked to more than 30 types of cancers, including ccRCC, cholangiocarcinomas, esophageal squamous cell carcinoma, bladder cancer, and breast cancer. The mutations associated with BAF180 are most often truncations, which result in a loss of protein expression. This loss has been shown to adversely affect the expression of genes, likely because BAF180 is the chromatin recognition subunit of PBAF. In addition, BAF180 functions in numerous DNA repair mechanisms. Its roles in mediating DNA repair are likely the mechanism by which BAF180 acts a tumor suppressor protein. As research on this protein gains more interest, scientists will begin to piece together the complicated puzzle of the BAF180 protein and why its loss often results in cancer.

中文翻译：

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BAF180：在癌症的DNA修复和后果中的作用

2011年，Varela等人。据报道，在大约40％的透明细胞肾细胞癌病例中，PBRM1基因发生了突变。从那时起，与PBRM1相关的研究数量癌症的突变已大大增加。BAF180现在已经与30多种癌症相关，包括ccRCC，胆管癌，食道鳞状细胞癌，膀胱癌和乳腺癌。与BAF180相关的突变通常是截短的，这会导致蛋白质表达的损失。该损失已显示出对基因表达的不利影响，可能是因为BAF180是PBAF的染色质识别亚基。另外，BAF180在多种DNA修复机制中起作用。它在介导DNA修复中的作用可能是BAF180发挥抑癌蛋白作用的机制。随着对这种蛋白质的研究越来越引起人们的兴趣，科学家将开始拼凑BAF180蛋白的复杂难题，以及其丢失通常导致癌症的原因。