SOX3

Overview

SOX3 (SRY-box transcription factor 3) is a developmental transcription factor belonging to the SOX family, with roles in neural and glial cell fate specification. In cancer genomics, SOX3 has been noted as among the most under-expressed developmental genes in malignant rhabdoid tumors (MRT) relative to human embryonic stem cells and fetal cerebellum, implicating it in the aberrant developmental arrest that characterizes SMARCB1-deficient tumors.

Alterations observed in the corpus

  • Among the most under-expressed developmental genes vs hESC and fetal cerebellum in extra-cranial malignant rhabdoid tumor (MRT) with SMARCB1 biallelic inactivation PMID:26977886

Cancer types (linked)

  • Malignant rhabdoid tumor (MRT): SOX3 is markedly under-expressed relative to developmental reference tissues, consistent with the developmental block imposed by SMARCB1 loss PMID:26977886

Co-occurrence and mutual exclusivity

Therapeutic relevance

  • No direct therapeutic relevance established; under-expression is hypothesis-generating for developmental pathway dependencies in MRT PMID:26977886

Open questions

  • Whether SOX3 silencing is a direct consequence of SMARCB1 loss or reflects an upstream developmental identity is unresolved PMID:26977886

Sources

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