Third Publication of the network by Eve Dias and Shubhra Bhattacharya at IJC



In this review, Eve and Shubhra delve into the field of mutations affecting the chromatin-regulatory cohesin complex and its modulators, prevalent in various human malignancies, particularly in myeloid neoplasms. Mainly, they focus on STAG2, the most frequently mutated cohesin subunit in myeloid malignancies.

Interestingly, STAG2 loss-of-function mutations, unlike typical associations, do not correlate with chromosomal aneuploidies or genomic instability. This observation leads to a hypothesis that shifts our attention to changes in gene expression as a potential disease-promoting mechanism.

The review critically examines the current state of knowledge regarding affected genes and pathways influenced by STAG2 mutations. Finally, the discussion extends to exploring potential strategies for targeting cohesin-deficient disease cells.”