2021
DOI: 10.1002/path.5836
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SWI/SNF‐deficient undifferentiated malignancies: where to draw the line

Abstract: et al. SMARCA4-deficient rhabdoid tumours show intermediate molecular features between SMARCB1-deficient rhabdoid tumours and small cell carcinomas of the ovary, hypercalcaemic type.

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Cited by 4 publications
(2 citation statements)
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“…SCCOHT cells also do not show the presence of another SWI/SNF subunit, the SMARCA2 protein, the suppression of which is a consequence of epigenetic gene silencing. In most known cancers with a defective SMARCA4 gene, the correct function of the SMARCA2 protein determines cell survival, so the above phenomenon is a kind of distinction [13,14].…”
Section: Pathogenesismentioning
confidence: 99%
See 1 more Smart Citation
“…SCCOHT cells also do not show the presence of another SWI/SNF subunit, the SMARCA2 protein, the suppression of which is a consequence of epigenetic gene silencing. In most known cancers with a defective SMARCA4 gene, the correct function of the SMARCA2 protein determines cell survival, so the above phenomenon is a kind of distinction [13,14].…”
Section: Pathogenesismentioning
confidence: 99%
“…A properly functioning SWI/SNF complex has an antagonistic effect on the repressor function of the PRC1 and PRC2 protein complexes in the regulation of gene expression. Loss of function of the SWI/SNF complex leads to increased PRC2 activity with a simultaneous increase in the level of H3K27me3 [3,13,28,14]. Abnormal PRC2 function may promote oncogenesis by repressing tumor suppressor genes, including CDKN2A.…”
Section: Epigenetic Therapiesmentioning
confidence: 99%